Monthly Archives: August 2022

Embryology

Embryology: Definition & Development Stages – Study.com

Embryology: Background

Gametes are sex cells carrying genetic information in the form of chromosomes. Humans, for example, have 23 pairs of chromosomes, half of which are inherited from the mother and half are inherited from the father. Most of these chromosomes (22 pairs) are called autosomes. Autosomes carry the hereditary genetic information that produces our unique characteristics such as hair color, eye color, and height.

The last pair of chromosomes are the gonosomes. These are chromosomes that determine whether we become male or female. Two X chromosomes make an embryo genotypically female, while one X and one Y chromosome make an embryo genotypically male. Female gametes (the eggs), also called oocytes, carry only X gonosomes, but male gametes (sperm) can carry either an X or a Y gonosome. This means that the genotypic sex of the child is decided by the father.

There are three prenatal periods: the first two weeks are the pre-embryonic period, weeks three to eight are the embryonic period, and weeks nine to birth are the fetal period.

During the pre-embryonic period, there are several important phases of human embryology that lead up to and follow sex determination: fertilization, cleavage, gastrulation, and organogenesis fertilization occur when there's a successful union between two gametes. In our example, this occurs when Peg the Egg and Vern the Sperm unite to form a zygote, a fertilized egg. After successful fertilization, the zygote undergoes a rapid replication process called cleavage.

By the end of day two, a multicellular pre-embryo called a blastocyst is formed. The blastocyst begins to embed itself into the lining of the mother's uterus by the end of the first week through a process called implantation and is fully embedded in the uterine lining by the end of the second week. Upon successful implantation, Peg and Vern can collectively be called Romeo the Embryo.

Sperm need to surround the oocyte (Peg the Egg) until one sperm breaks through the egg's outer layer, contributing its DNA (aka Vern the Sperm).

At the time of ovulation, the oocyte enters the uterine (fallopian) tube where it is fertilized. The fertilized egg travels through the uterine tube, undergoing cleavage until it becomes a blastocyst and implants in the uterine lining.

The blastocyst embeds itself into the uterine lining. Once complete, cells begin to differentiate to form a bi-layer and then tri-layer embryonic disc. The tri-layer embryonic disc gives rise to the primary germ layers of the embryo. Germ layers are composed of cells that will undergo transformation to become the organs and structures of the developing embryo.

DNA from the sperm (23 chromosomes) and DNA from the oocyte (23 chromosomes) combine via meiosis, ensuring that the zygote contains precisely 46 chromosomes (23 pairs of chromosomes).

Next, Romeo the Embryo undergoes gastrulation, which is the formation of the primary germ layers. By the end of week two, a bi-layer embryonic disc forms, and then by the end of week three a tri-layer embryonic disc is formed. The tri-layer embryonic disc is comprised of ectoderm, endoderm, and mesoderm, which will become all the wonderful things that make Romeo unique.

Organogenesis, the development and differentiation of a fetus's organs, begins during week three and continues through week eight. Sex determination begins during organogenesis, but for the first six weeks Romeo is sexually indifferent.

How do we determine if Peg and Vern made a boy or a girl? We do a little genetic profiling and see that Romeo has both an X and a Y chromosome. That means Romeo is a boy, right? Not necessarily.

For Romeo to be both genotypically and phenotypically (outward expression of genes) male, there are a couple of things that must be present. First, the Y chromosome must have a gene called the Sex Determining Region Y, or Testis Determining Factor (TDF for short). The SRY gene produces a protein that activates the Androgen Receptor (AR for short) gene on the X chromosome. If the AR gene is present on the X chromosome and the SRY gene successfully triggers activation, the AR gene triggers the production of AR proteins.

What is androgen, by the way? It is a steroid-based hormone that is converted into testosterone in males and female sex hormones in females. Testosterone is attracted to AR proteins and testosterone is what makes men, men.

The sexually indifferent embryo has bipotential gonads, the primary sex organs that can become either ovaries or testes. What happens next is dependent upon the composition of and the interaction between the X and Y chromosomes. The urogenital sinus will become the bladder and associated urethra.

What does this all mean? It means that all the requirements necessary for Romeo to be male have been met. As you can see in this picture, Romeo is now on his way to becoming phenotypically male.

By week ten, Romeo's gonads are making testosterone, and by week twelve, the external genitalia begin to take the shape of a penis and scrotum. By the time Romeo is born, his internal and external reproductive organs are precisely where they should be for a newborn boy.

What would happen if Romeo's SRY gene did not properly activate the AR gene on the X chromosome? The default sex is female so Romeo would be genotypically male but phenotypically female. Biological sex is a complicated thing!

If the embryo is XX, the female duct system is selected. In the event any of the critical male genes and/or hormones are absent, the female duct system is selected.

Okay, that was quite a bit, so let's take a moment to review what we've learned. As we saw in this lesson, sex determination is just one facet of the complex process of embryonic development and largely the focus of embryology, which is the science that deals with the development and growth of an individual within the uterus. As we also learned, genetic sex is decided at the time of fertilization by our gonosomes, which are the chromosomes that determine whether we become male or female (either XX or XY, in other words).

However, genotypic sex is just part of what determines if we're male or female. Phenotypic sex is determined during organogenesis, which happens when there's a successful union between two gametes. It happens by either inhibiting the development of the female duct system through the synthesis of male sex hormones or by defaulting to the female duct system.

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Embryology: Definition & Development Stages - Study.com

Embryology

Embryology, Ear – StatPearls – NCBI Bookshelf

Introduction

The ear is an incredible organ of hearing and equilibrium divided into three anatomic parts: the external, middle, andinternal ear. The external ear, or outer ear, consists of the auricle or pinna, and the tubular external auditory canal ending at the tympanic cavity. The external ear resonates and amplifies sound,and it directs sound towards the tympanic membrane. The middle ear's tympanic membrane converts energy from sound waves into mechanical energy as vibrations.The middle ear is essentially an air-filled cavity that houses three auditory ossicles: the malleus, incus, and stapes. The ossicles transmit sound vibrations from the tympanic membrane to theinternal or inner ear. Theinternalear, or labyrinth of the ear, houses the organs of hearing and balance. The internal earis composed of thevestibule, semicircular canals, and cochlea.The vestibule functions tosense linear acceleration, while the semicircular canals sense rotational movements. The cochlea'sorgan of Corti functions totransduce auditory signals into neuronal impulses that reach the brain via the vestibulocochlear nerve.The delicate structures of the internal, middle, and external ear must function in concert to transmit sound and sense movement.

The development of the earrequires contributions from allthree germ layers and involves a sophisticated process with intricate embryologic patterning. Each anatomic divisionof the ear has a distinct origin and unique developmental processes resulting in their typical form.[1]While the development of the ear continuespost-birth, a fetus can functionally hear by about 26 weeks of development. Notably, several anatomic variants and congenital conditions can arise from deviationsin the typical developmental processes.[2]

InternalEar

The internal ear is derived from ectoderm, and it is the first of the three anatomic parts of the ear to form. Development begins as a pair ofshort-lived thickenings of the surface ectoderm, the otic placode or otic disc, appear dorsolateral to the hindbrainaround the fourth week of developmentthe otic placode forms due to the induction of surface ectoderm by the nearby notochord and paraxial mesoderm. The otic placode is one of the first sensory placodes involved in the formation of special sensory organs to develop.

The otic placode invaginates into the mesenchyme adjacent to the rhombencephalon to form an otic pit. Thesides ofthe otic pit fold together and fuse to form a hollow piriform structure lined with columnar epithelium, called the otic vesicle. Rapidly, the otic vesicle moves deep to the surface ectodermand is instead enveloped in mesenchyme to form the otic capsule. The statoacoustic, or vestibulocochlear, ganglionarises as neurons delaminate duringthe formation of the otic vesicleand, later,the ganglion splits into cochlear and vestibular portions.

The otic vesicleforms two visible regions: a ventral saccular portion and a dorsal utricular portion. The ventral saccular portion gives rise tointernal ear structures involved in hearing, including the cochlear ducts and saccules. The dorsal utricular portion gives rise to the vestibular system, includingthe utricle, semicircular canals, and endolymphatic tube.[3][4]Ultimately, the otic vesicle will differentiate to form all of the components of the membranous labyrinth and theinternal ear structures associated with hearing and balance.

The otic vesicle elongates within the firstfour weeks to form a tube-like structure called the endolymphatic appendage. Soon after, a groove-like indentation forms and demarcates a tubular diverticulum on the medial side of the endolymphatic appendage. This diverticulum differentiates into the endolymphatic duct and sac and continues to grow until around the age of four.[5]

Internal Ear: Ventral Saccular Component

The ventral saccular component of the otic vesicleformsa tubular cochlear duct, the primordial cochlea, within the mesenchymeby the sixth week. The cochlear duct grows and spiralstwo and a halftimes to produce the membranous cochlea. Rapidly, the saccule connects to the utricle via a duct called the ductus reuniens.

Mesenchyme surrounding the otic vesicle is induced to form a cartilaginous otic capsule, which will ossify to produce theinternal ear's bony labyrinth later in development. The cartilaginous otic capsule then forms vacuolesthat coalesce into the fluid-filled perilymphatic space of the cochlea. The fluid, or perilymph, resides within the perilymphatic space and surrounds the membranous labyrinth. The perilymphatic space thenseparates into two divisions: the scala vestibule and the scala tympani. Two membranes separate the cochlear duct from the perilymphatic divisions. The basilar membrane demarcates thecochlear duct from the scala tympani, while the vestibular membrane separatesthe cochlear duct from the scala vestibule. Cells in the lateral aspect of the cochlear duct differentiate to form the organ of Corti, or spiral organ or spiral organ of Corti, within the scala media of the cochlear duct. The cochlear ductalso develops an attachment to the surrounding cartilage via connective tissue,the spiral ligament.

Theorgan of Cortiis formedwhen ridges of epithelial cells from the cochlear ductproduce rows of mechanosensory hair cells that are covered by the tectorial membrane. The spiral ganglion forms when ganglion cells derived from the vestibulocochlear nerve (CN VIII) migrate along the spirals of the membranous cochlea. Nervous processes then extend from the spiral ganglion to hair cells of the organ of Corti.

Thecartilaginous oticcapsule surrounding the membranous labyrinth ossifiesby about 23 weeks to form the true bony labyrinth.[6]Around this time, the internal earhas reachedits adult size and form.

Internal Ear: Dorsal Utricular Component

The dorsal utricular portion of the otic vesicle forms the utricle and semicircular canals, the organs of balance. During thesixth week, disc-like epithelial outpouchings extend dorsolaterally from the dorsal utricular portion of the primordial membranous labyrinth. The central portions of thesediscs approach each other, and their epithelium joins to form fusion plateswhich ultimatelyregress via programmed cell death. The peripheral unfused portions of thediscs that fail to regress form incipient semicircular ducts that attach to the utricle. Later, the semicircular ducts are incorporatedwithin the anterior, posterior, and lateral semicircular canals.

At one end of eachsemicircularduct, a dilatation of the ductdevelops and is called anampulla. Theampullae contain sensory hair cells that form crests with specialized receptor areas, the cristae ampullares. Similarspecialized areas form in the walls of the saccule and utricle. These regions sense changes in angular acceleration and serve as the sensory organ of rotation. Sensory cells of the cristae ampullaresgenerate impulses that reach the brain via vestibular fibers of the vestibulocochlear nerve.[7]

Middle Ear

The middle ear is composed of the tympanic cavity and the Eustachian,also known as the auditory or pharyngotympanic, tube. Structures of the middle ear are derived fromthetubotympanic sulcus, or tubotympanic recess, an endodermal extension from the first pharyngeal pouch. Around the 5th weekof development, the tubotympanicsulcusextends laterally to approach the floor of the first pharyngeal groove but remains separated by mesenchyme. During development, the endoderm of the tubotympanicsulcus and the ectoderm of the first pharyngealgroovefurther approacheach other, but they continue to maintain a layer of mesoderm between them. The end result is a trilaminar tympanic membrane made up of tissues derived from all three germ layers: ectoderm, mesoderm, and endoderm.

The tympanic cavity developsas an expansion of the distal portion of the tubotympanic sulcus. Anatomically, the tympanic cavity divides into upper (attic) and lower (atrium) chambers and gradually surrounds the ossicles, their attachments, and the chorda tympani. The Eustachian tube is formed from the proximal portion of the tubotympanic sulcus. The Eustachian tube is more horizontal, short, and narrow at birth than in later adulthood, which is a major reason infants have recurrent ear infections. Despite anendodermal origin, both the tympanic cavity and the Eustachian tube are ultimately lined by epithelium-derived from endoderm and neural crest cells. The Eustachian tube demonstrates the most growth during weeks 16 to 28 of the fetal period.[8]

The middle ear ossicles initially form around six weeks of development. Theyfirst appear in a cartilaginous form that arises from neural crest-derived mesenchymal cellswithin the first and second pharyngeal arches that condense at the dorsal end of the tubotympanicsulcus. The malleus and incus develop from Meckel's cartilage of the first pharyngeal arch. The stapes have a complex origin, partly arising from both neural crest cells and Reichert's cartilage of the second pharyngeal arch. As the tympanic cavity develops, theossicular cartilages go through endochondral ossification that continues throughout the entire fetal period. Late in thefetal period, the mesenchyme that fills the tympanic cavity andsurrounds the ossicles is resorbedto produce an air-filled tympanic cavity with ossicles suspended inside. Eventually, the tympanic cavity expands and forms the mastoid antrum.

The tensor tympani musclearises from the mesoderm of the first pharyngeal arch and is innervated by the mandibular branch of the trigeminal nerve. The stapedius muscle originates from the mesoderm of the second pharyngeal arch and is innervated by the facial nerve.[9][10]The middle ear continues to develop post-birthand through puberty.

External Ear

The external ear first developsin the lowercervical region, but it graduallymovesposterolaterally during development toreach its typical location.[11]The external ear's auricle develops from the mesenchymal proliferationof the first and second pharyngeal archesatthe end of thefourth week of development. Sixprominences, or auricular hillocks, form around the external auditory meatusand eventually fuse to form the auricle. Three auricular hillocks,hillocks 1to 3, arise from the first pharyngeal archto formthe tragus, helix, and cymba concha; andthree auricular hillocks, hillocks 4to 6, arise from the second pharyngeal arch toform the concha, antihelix, and antitragus.

The external auditory meatus arises from the dorsal portion of the first pharyngeal groove. The meatus first develops as an invagination of ectoderm between the first and second pharyngeal arches that extends toward the developing middle ear structures. Around the fifth week,the ectodermal diverticulum extends toward the pharynx andhouses proliferating ectodermal cells thatproducean epithelial plug, the meatal plug, that will fillsits entire lumen. At approximately tenweeks of development, theend of the meatal plug expands circumferentially to create a disc-like structure. Eventually, thedisc-like meatal plug contacts the primordial malleus, divides, and leaves behind a thin ectodermal layer forming anincipienttympanic membrane. A continuation of the thin skin of the pinna lines the entire external auditory meatus and the outer surface of the tympanic membrane. By 18 weeks, the external auditory meatus is completely patent and expands to produce itstypical morphology.

The auricle and externalauditory canal are both lined with keratinized squamous epithelium. The externalauditory canal is formed partly of cartilage and partly of bone. The internal bony segment has tiny hairs and cerumen-producing apocrine glands along its lining.

The tympanic membrane separates the external ear from the tympanic cavity and has a trilaminar structure with contributions from all three germ layers. The outerlayer of the tympanic membrane is composed of keratinized stratified squamous epithelium and is continuous with the surrounding external skin. The epithelium ofthe outer layer originates from the ectoderm of the first pharyngeal groove. The middle layer of the tympanic membrane is a thin fibrous connective tissue layer derived from mesoderm and composed of collagen and elastic fibers called the lamina propria. The inner mucosal layer of the tympanic membrane is derived from the endoderm of the first pharyngeal pouch. The mucous membrane is composed of a non-keratinized squamous epithelium that is continuous with the lining of the tympanic cavity.

The utricle and saccule are otolith organs located in the vestibule that detect movement in different planes. The utricle and saccule consist of sensory areas called maculaecomposed of supporting cells and hair cells covered in a gelatinous acellular matrix called the otolithic membrane. The otolithic membrane is embedded with calcium carbonate crystals called otoliths. The crista ampullaris of the semicircular ducts have a sensory epithelium similar to that of the macula, also consisting of hair cells and supporting cells. The hair cells of the cristae project into a gelatinous material called the cupula, which does not contain otoliths, and serves to detect rotational acceleration.

The organ of Corti is located on the basilar membrane and consists of a variety of supporting cells and two groups of hair cells: inner hair cells and outer hair cells. The inner hair cells account for approximately 95% of the sensory input into the auditory system and arrange in one line along the entire basilar membrane. The outer hair cells account for about 5% of sensory input and serve primarily as acoustical pre-amplifiers. The outer hair cells receive efferent input and contract when stimulated, resulting in amplified sound waves. The supporting cells include Hensen cells, Corti pillars, Deiters cells, and Claudius cells. The supporting cells play essential roles in the function and maintenance of theinternal ear and primarily serve structural and homeostatic functions.[12]

Proper formation and axial positioning of the components of the ear occur through complex reciprocal interactions between the epithelium and mesenchyme of the pharyngeal arches and hindbrain. These complex interactions involve a wide variety of essential genes, morphogens, and transcription factors that ultimately determine the fate of cells in theinternal ear. Members of the Wnt, Sonic Hedgehog (SHH), and fibroblast-growth-factor (FGF) families, combined with retinoic acid signals, regulate transcription factor genes within the primordialinternal ear to regionalize neurogenic activity and establish the axial identity of the ear.

Otic placode induction is dependent on Wnts and FGFs provided by the hindbrain and surrounding head mesenchyme. After induction, the otic placode continues to be influenced by signaling information from surrounding tissues that determine its positional identity along the dorsal-ventral, anterior-posterior, and medial-lateral axes. The anterior-posterior axis is the first axis to be specified. It requires retinoic acid, a key morphogen, to confer proper anterior and posterior identities of theinternal ear. Somites express high levels of Raldh2, a retinoic acid synthesizing enzyme that serves as the primary source of retinoic acid for patterning theinternal ear. Retinoic acid signaling results in proper anterior-posterior patterning of theinternal ear and establishes the neural-sensory-competent domain (NSD) in the anterior otic cup.

The neural-sensory-competent domain gives rise to neurons of the cochleovestibular ganglion, as well as prosensory cells of theinternal ear that differentiate into supporting cells or sensory hair cells. Neurogenin1 is a proneural gene that encodes a basic helix-loop-helix region (bHCH) transcription factor and is one of the earliest molecular markers determining the neurogenic fate of cells in theinternal ear. The anterior portion of the NSD contains Ngn1-positive cells that ultimately leave the otic epithelium and coalesce to become neurons of the cochleovestibular ganglion. The remaining sensory epithelium of the NSD develops into supporting cells, sensory hair cells, and some nonsensory cells.[13][14][15]

Proper patterning of theinternal ear dorsal-ventral axis involves the secretion of Wnts transcription factors from the dorsal hindbrain and the release of Sonic Hedgehog from the notochord and ventral floor plate. The patterning of the medial-lateral axis of theinternal ear has not been well studied. It is thought to involve hindbrain signaling mediated by the transcription factor Gbx2 from the otic epithelium.

Sonic Hedgehog is not only imperative in determining the dorsal-ventral axis of theinternal ear, but it is also responsible for regulating and determining auditory cell fates within theinternal ear. Sonic Hedgehog is released from the notochord and ventral hindbrain and allows for proper cochlear duct and semicircular canal development. The mesenchyme encasing the developinginternal ear is also essential for shaping the semicircular canals and cochlear duct into their final form through both structural and molecular means.

Although the mechanisms and molecules involved in the process of semicircular canal formation are largely unexplored, studies have implicated a variety of mesenchymal genes in canal formation, such as Prx and Pou3f4. Proper extension and outgrowth of the cochlear duct are dependent on Sonic Hedgehog secretion from the notochord and the release of transcription factors called Tbx1 and Pou3f4 from the otic mesenchyme. Studies have shown that an absence of Pou3f4 or Tbx1 in the otic mesenchyme results in abnormal shortening or coiling of the cochlear duct.[16][17][18]

Congenitalanomalies involving the ear maybe of significant physical and psychosocial concern to patients and the parents of afflicted children, given that these conditionsmay affect physical appearance, hearing, and balance.[19]In addition, the financial cost of such conditionscan be significant given the potentialfor long-termspecial education, healthcare, and accessibility needs. Around 15to 20% of neonates are estimated to be born with congenital abnormalities of the ear, and around 30% of these will resolve without intervention by six weeks of age.

While a wide variety of congenitalanomalies ofthe ear exist, those that impact hearing are particularly concerning.[2] Neonatal hearing loss may becomplete or partial, andapproximately 1 in 1,000neonates is estimated tohave "significant" congenitalhearing loss. Developmentalanomalies of the ear that result in conductive hearing loss tend to involve the external and/or middle ear, while those that result in sensorineural hearing loss often involve the inner ear. Additional congenital causes of sensorineural hearing lossimpact anatomicstructures outsideof the ear,including the vestibulocochlear nerve and auditory regions of the brain. The various developmentalanomaliesof the ear mayresult from genetic and/or environmental factors, the latteroften caused byviral infections, neonatal exposures, ornoise.

Internal Ear

Neonatal hearing loss is sometimes duetodevelopmentalanomalies of the neurosensory components of the internal ear. The most common cause, Enlarged Vestibular Aqueduct Syndrome (EVA), is an autosomal recessive condition in which there is a bilateral enlargement of the endolymphatic duct and vestibular aqueduct.[20]

Maternal infection with rubella isanother source of neonatal hearing loss that may hinder the development of the organ of Corti inthefourth week of development, resulting in its malformation. Similarly, maternal infection with cytomegalovirus is another potential causeof congenital sensorineural hearing loss.Other relatively commoncongenital anomalies of the internal earinclude Mondini dysplasia and autosomal dominant nonsyndromic hearing loss.

Middle Ear

Congenitalanomalies of the middle ear are relatively rare and include congenital fixation of one or more of the ossicles, a rare primary bone dysplasia called familial expansile osteolysis, and acyst-like abnormal accumulation of skin cells called cholesteatoma. Developmentalmalformationsof the middle ear structures responsible for sound conversion and transmission contribute to neonatal hearing loss.

External ear

Numerous congenitalanomalies of theexternal ear have been recorded in the literature.[21][22]Congenital anomalies of the external ear can potentially impact physical appearance or hearing.Given the role of the pharyngeal arches inthedevelopment of the external ear,anomalies of the external ear are associated with other pharyngeal arch anomalies and a variety of chromosomal disorders.

Preauricular tags, or simply ear tags, are common and usually benign findings in neonates that involve cutaneous, fatty, or cartilaginous growths. Occasionally, preauricular tagsmay be associated with other pharyngeal arch anomalies or genetic syndromes.Developmentally, accessory auricular hillockssometimes produce auricular appendages,preauricular tags, or an accessory auricle.

Microtia is a developmental anomaly of the external ear involving an under-developmentof the typical mesenchymal proliferationsthat formthe external ear. This condition presents at birth as an unusually small and sometimes misshapen external earandis highly variable inits degree of severity. Microtia is associated with conductive hearing loss due to the possibility of middle and external ear malformations and the potential for complete agenesis of the external auditory canal.[19]Bilateral microtia is aclassic indicator ofTreacher-Collins Syndrome (TCS) and is present in approximately 85% of patients with TCS.[23]

Cryptotiais a malformation of the cartilage of the external ear that involvespart of the externalear, usually the superior portion, being buried under the adjacent skin.[21]

Another external ear congenital anomaly, unilateral or bilateral atresia of the external acoustic meatus, occurs in individuals who retain the meatal plugdue to a failureof canalization. In most cases, the external acoustic meatus is only superficially obstructed by fibrous or bony tissue.Given its relationship to the first pharyngeal groove, atresia of the external acoustic meatushas been associated with variousmalformations. Finally, the complete absence of the external auditory meatus is a rare congenital anomaly of the external ear; this condition occurs due to a failure in the mesenchymal proliferation arising from the first pharyngeal groove.

Anatomy of the outer, middle, and inner ear. Image created for publication by Diana Peterson.

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Embryology, Ear - StatPearls - NCBI Bookshelf

Embryology

Fertility law and regulation need to changehere’s how it could happen – The BMJ

The fertility sector has undergone radical changes, with the UKs 30 year old legislation unable to keep up. Sarah Graham asks what the UKs regulatory body needs to do about this

The past 30 years have seen the fertility sector undergo considerable change and expansion, not just in scientific and medical terms but in sociocultural and commercial terms as well. Once controversial and highly stigmatised, the use of assisted reproductive technologies is today an increasingly mainstream way of starting a family. Of the almost 22 million123 live births recorded across the UK between 1991 and 2019, more than 390000 babies (around 1.8%) were born as a result of fertility treatment.4 But while theres no doubt that fertility treatment has changed significantly, many agree that the legal and regulatory frameworks surrounding it have not kept up.

Julia Chain, chair of UK regulator the Human Fertilisation and Embryology Authority (HFEA), is clear about the need to update UK fertility law, bringing the Human Fertilisation and Embryology Act 1990 in step with the realities of modern life. Speaking to the Fertility 2022 conference in January, Chain said that while much of the act remains fit for purpose, shed like to see selective modernisation in three key areas: patient protection; scientific developments; and consent, data sharing, and anonymity.5

The HFEA has already taken the first steps towards parliamentary change. According to a spokesperson from the Department of Health and Social Care, The [HFEA] has agreed with the department that it will undertake a review of the Human Fertilisation and Embryology Act to identify priorities for modernisation and present a report on its proposals by the end of the year. The department welcomes this work and we will consider the report when it is completed. So what do doctors and

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Fertility law and regulation need to changehere's how it could happen - The BMJ

Embryology

Letter writer disturbed by abortion support | Letters to the Editor | thebrunswicknews.com – Brunswick News

After reading several abortion-supporting letters, I needed to respond to their deeply disturbing lack of care for human life. They are advancing the culture of death. Very sad people support killing of innocent unborn babies in what should be their safest haven their mothers womb. Their arguments are illogical. Each child has unique, individual, unrepeatable DNA. When that child is killed in abortion, the unique human being can never be replicated. Sad. All for the right to choose. Right to choose what? Women should have choices in living their lives. But some choices are wrong like choosing to intentionally kill an innocent human being. Ive heard many say a womans life is ruined if pregnancies are sustained. In other words, kill a baby due to inconvenience.

Why is society choosing to devalue human life so callously and casually? It is not just a clump of cells. Embryology and science have proven this wrong, but pro-death activists spout this lie. A clump of cells doesnt have a heartbeat three weeks from conception. A local protester said he doesnt support killing babies. If you vote for politicians championing this evil against innocent children, then you support murder of the unborn. You cannot hide the truth. The abortion lobby uses verbal engineering, seeking to hide that truth. The left supports abortions up until birth. Voting for these radicals poses a threat to every new and existing human life.

Stop the madness and immorality. Vote pro-life. Babies lives depend on it!

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Letter writer disturbed by abortion support | Letters to the Editor | thebrunswicknews.com - Brunswick News

Embryology

Indiana Family Health Council pushes for more sex ed after abortion ban – WTHR

Around 480,000 Hoosiers are in need of publicly-funded contraception, according to the latest data from the Indiana Family Health Council.

INDIANAPOLIS In less than one month, most abortions will be illegal in Indiana. Now, there's a renewed push to teach more sex education in schools.

Around 480,000 Hoosiers are in need of publicly-funded contraception, according to the latest data from the Indiana Family Health Council. The president and CEO acknowledged that her team won't be able to help all these men and women. She said that's why more education early on would help in preventing unwanted pregnancy.

The Indiana Family Health Council uses federal funding to provide family planning services and education for families and school systems. Their services focus on those at or below the poverty level.

Following Indiana's abortion ban, CEO and President Dr. Kristin Adams said they're already starting to see more people wanting long-acting, reversible contraceptives.

However, Adams said education will be even more crucial following Sept. 15, when most abortions won't be allowed in the state. She said schools should be teaching sexual education longer than a semester and beyond what is required by Indiana law. However, to her knowledge, schools aren't considering changing their rubric.

"The only thing that must be taught is HIV education and basic embryology. So, there is nothing that says sex ed must be taught and if it is, then it must be done at the abstinence focus," Adams said. "While the legislature did put a lot of language in there about rape and incest, at the end of the day, sometimes kids don't know what those words mean, and they don't know what happened to them. So, with a time limit, it may be too late."

Adams said while it's not a requirement, students should be knowledgeable about contraception.

"Some school systems choose not to address the issue, and then when you think about health education and when kids get that, it's usually at ninth or tenth grade, and it's only for a semester. So, it's not lifelong learning," Adams said. "I used to teach at the university level. By the time I got them at 18,19, 22, 23 and sometimes in their 30s, they didn't have a basic understanding of their own bodies."

Adams said conversations should be happening at home as well. Age-appropriate conversations should happen early and often, she said.

"This is human nature. This is who we are, and no matter your belief on abortion or not, we need to be having open and honest conversations and not making it feel like we need to be ashamed of this. So, let's keep the dialogue open, let's keep the medical information flowing. Let's be factual about it," Adams said.

Next fall, Indiana will be getting a mobile unit to deliver contraceptives, pap smears and STD testing to help with access.Indiana Family Health Council expects to start offering these services late next year.

Adams said she knows these conversations about sex can be uncomfortable. For assistance, she recommends visiting ifhc.org or emailing info@ifhc.org.

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Indiana Family Health Council pushes for more sex ed after abortion ban - WTHR

Embryology

How spilled coffee inspired a Boston sperm-testing startup – The Boston Globe

Khaled Kteily might never have founded his Boston home health care startup, Legacy, if not for spilling a hot beverage in his lap.

The accident left him with second-degree burns around some sensitive areas. And when a friend mentioned he was having his sperm tested and saved before chemotherapy, Kteily decided he should also get tested in case the burns affected his future fertility.

A student at Harvards John F. Kennedy School, Kteily went to a Cambridge sperm bank, where he was quizzed about intimate details of his sexual history in the waiting room, then sent to the specimen collection room. As he sat in the dark, he tried not to think of how many people had sat in the same spot to perform the same task.

Everything about that experience was so dehumanizing for someone who just wanted to be proactive about their fertility, Kteily recalled.

But the experience also gave him the idea for Legacy, an at-home sperm testing and collection service. He set up the company at Harvards Innovation Labs in May 2018 and went through the startup accelerator Y Combinator in 2019. So far, Legacy has raised more than $45 million, including a $25 million round this year led by Bain Capital Ventures that also included celebrities DJ Khalid, Orlando Bloom, and Justin Bieber. (Including the celebs was part of our effort to de-stigmatize and normalize the conversation around infertility, Kteily said.)

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More chemicals in the environment, higher stress levels, and other illnesses are contributing to a decrease in male fertility, Kteily noted. Sperm concentration declined by 50 percent or more from 1973 to 2011, according to a widely cited study by the European Society of Human Reproduction and Embryology though a Harvard study last year challenged those findings.

Legacy offers sperm testing and storage at much lower prices than typical sperm banks. Charging about $300 upfront for testing plus about $100 per year for storage, Legacy is undercutting the industry by hundreds of dollars per year.

Its sometimes a challenge to conduct marketing like a typical health startup. Legacy wanted to run advertisements in Texas and New York using the word sperm, but the term was prohibited by the billboard companies.

Its the medical term, Kteily said. So thats one of the challenges you face working in a stigmatized industry like ours.

The latest effort at Legacy is a joint research project with the Veterans Health Administration and the agencys New England Center for Innovation Excellence, located in Bedford. Legacy will take sperm samples from veterans of recent conflicts and measure their fertility over time. Soldiers can be exposed to chemical toxins on the battlefield and also suffer other injuries that affect fertility.

We know based upon existing evidence that male veterans are at high risk of infertility, but we dont really know why, we dont have a good scientific reason, said Dr. Ryan Vega, chief officer for health care innovation and learning at the VA. The research project with Legacy is really aimed at trying to begin to put the puzzle together.

While both male and female veterans suffer from infertility problems, males are less likely to seek treatment, according to surveys conducted by the VA. The agency hopes Legacys project will also help it encourage more veterans to get help.

We want to make sure that we can present an opportunity for our veterans to have that space to have the conversations with their providers to seek care for infertility issues, Leandro DaSilva, acting director of the innovation excellence center, said.

In addition to its fertility services, Legacy is also expanding its services to include home testing for sexually transmitted diseases.

We believe that on the path to parenthood, there are a number of products and services that were going to be able to offer as part of our vision, which is to unlock sperm as a biomarker of health, Kteily said.

Aaron Pressman can be reached at aaron.pressman@globe.com. Follow him on Twitter @ampressman.

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How spilled coffee inspired a Boston sperm-testing startup - The Boston Globe

Embryology

Merck Foundation CEO Acknowledged Zimbabwe First Lady’s Efforts as Ambassador of More than a Mother to Build Healthcare Capacity, Break Infertility S…

Merck Foundation CEO Acknowledged Zimbabwe First Ladys Efforts as Ambassador of More than a Mother to Build Healthcare Capacity, Break Infertility Stigma, and Support Girl Education

Mumbai, Maharashtra, India & Harare, Zimbabwe Business Wire India

Merck Foundation provided around 100 scholarships to doctors on 32 critical specialties in Zimbabwe.At the same occasions, Merck Foundation Zimbabwe Alumni Summit and Merck Foundation Awards ceremony were conducted

Merck Foundation and Zimbabwe First Lady announced the Call for Applications for 2 new categories of 2022 Awards for Media, Musicians, Fashion Designers, Filmmakers, students, and new potential talents in these fields

Merck Foundation Awards More Than a Mother 2022 to address issues such as: Breaking Infertility Stigma, Support Girls Education, End Child Marriage, End FGM, Stopping GBV, and/or Women Empowerment at all levels

Merck Foundation Awards Diabetes & Hypertension 2022 to promote a healthy lifestyle and raise awareness about the prevention and early detection of Diabetes & Hypertension

Senator Dr. Rasha Kelej, CEO of Merck Foundation, the philanthropic arm of Merck KGaA Germany, for the first time physically in Zimbabwe, officially launched their programs in partnership withH.E.Dr. AUXILLIA MNANGAGWA, The First Lady of Zimbabwe and the Ambassador of Merck Foundation More Than a Mothertogether withMinistry of Health & Child Care, at the State House of Zimbabwe, the programs which started in 2019 aim to transform patient care, build healthcare capacity, break the stigma of infertility, empower women, support girl education in Zimbabwe and the rest of Africa.Senator, Dr. Rasha Kelej, CEO of Merck Foundation and President of More Than a Mother Campaignemphasized, I am honored to meet my dear sister,H.E. Dr. AUXILLIA MNANGAGWA, The First Lady of Zimbabwe and the Ambassador of Merck Foundation More Than a Motherat the State House of Zimbabwe for the first time in the country, to officially launch our programs and follow up our long-term partnership to build healthcare capacity, support girl education, and empower infertile women in Zimbabwe.

I am proud to share that together withZimbabwe First Lady, we have provided around100 scholarshipsof one-year Diploma and two-year Master Degree in many critical and underserved medical specialties including Fertility & Embryology, Oncology, Diabetes, Preventive Cardiovascular, Endocrinology, Sexual & Reproductive Medicine, Respiratory Medicine, Acute Medicine, and Clinical Microbiology, infectious diseases and more to young Zimbabwean doctors.

H.E. Dr. AUXILLIA MNANGAGWA, The First Lady of Zimbabwe and Ambassador of Merck Foundation More than a Motherexpressed, I am very happy to meet and host Merck Foundation CEO for the first time in our country especially after the corona pandemic slightly eased. We started our joint programs in 2019 and are happy to officially launch these important programs, and also celebrate an important milestone of success and impact. We worked hard together with Merck Foundation over the past three years to make history by providing specialty training to first specialists in many fields in public sector hence transforming patent care landscape in our country.

Moreover, during the launch program, Merck Foundation CEOtogether withZimbabwe First Ladymet and acknowledged the Merck Foundation Alumni and the Winners of the Merck Foundation Media Recognition Awards.Senator Rasha Kelejfurther emphasized, It was lovely meeting and acknowledging our Merck Foundation Alumni who are the future healthcare experts of Zimbabwe. It was also a pleasure to felicitate the Winners of 2019, 2020 and 2021 Merck Foundation Media Awards from Zimbabwe and discuss with them the critical role they can play to create a culture shift and to be the voice of the voiceless to be Merck foundation health and social champions.

Zimbabwe winners of Merck Foundation Media Awards in partnership withThe First Lady of Zimbabwe, H.E. Dr. AUXILLIA MNANGAGWA & Ambassador of Merck Foundation More Than a Motherare:

Merck Foundation "More Than a Mother" Media Recognition Awards 2021

Moses Mugugunyeki,The Standard (Print FIRST Position)

Tendai Rupapa,The Herald (Online FIRST Position)

John Manzongo,The Herald (Online FIRST Position)

Gracious Mugovera,The Patriot (Online FIRST Position)

Catherine Murombedzi nee Mwauyakufa, The Observer (Online SECOND Position)

Merck Foundation "Mask Up with Care" Media Recognition Awards 2021

Silence Mugadzaweta,NewsD (Print SECOND Position)

Muchaneta Chimuka,Zimpapers Covid-19 Newsletter (Online FIRST Position)

Tendai Rupapa,The Herald (Online FIRST Position)

Nevson Mpofu,www.panafricanvisions.com (Online SECOND Position)

Elizabeth Sitotombe,The Patriot Newspaper (Online SECOND Position)

Silence Mugadzaweta,News Day (Online THIRD Position)

Veronica Gwaze,Sunday Mail (Online THIRD Position)

PETER CHIVHIMA,ZIMBABWE BROADCASTING CORPORATION (MULTIMEDIA FIRST Position)

Merck Foundation "More Than a Mother" Media Recognition Awards 2020

Roselyne Sachiti,The Herald Newspaper (Print - FIRST Position)

Mugugunye Moses,The Standard (Print SECOND Position)

Patrick Musira,The Afronews (Print -THIRD Position)

Takudzwa Chihambakwe,Zimpapers Group (Print - THIRD Position)

Nyasha Clementine Rwodzi ,Self Represented (Print SPECIAL AWARD, NOVEL)

Gracious Mugovera,The Patriot (Online FIRST Position)

John Manzongo,The Herald Newspaper (Online THIRD Position)

Abel Dzobo,Hela TV (Multimedia - FIRST Position)

Tashie Masawi,ZBC Radio Station Classic 263 (Radio - FIRST Position)

Rutendo Makuti,ZBC Radio Zimbabwe (Radio - SECOND Position)

Memory Nkwe Ndhlovu,Media House: Classic 263 (Radio - THIRD Position)

Merck Foundation "Stay At Home" Media Recognition Awards 2020

Bridget Mananavire, Independent Senior Reporter (Print - SECOND Position)

Cliff Chiduku, Newsday (Print - THIRD Position)

Tendai Rupapa,The Herald (Online FIRST Position)

Andrew Mambondiyani, The African Argument (Online - SECOND Position)

Merck Foundation "More Than a Mother" Media Recognition Awards 2019

Abel Dzobo,Hela TV (Multimedia)

John Manzongo,The Herald Newspaper (Online)

Mugugunye Moses Chigwa,The Standard (Print)

Patrick Musira,The Afronews, Canada (Print SPECIAL)

Roselyne Sachiti,The Herald Newspaper (Print SPECIAL)

Takudzwa Chihambakwe, Zimpapers Group (Print SPECIAL)

Tashie Masawi, ZBC Radio Station Classic 263 (Radio)

Rutendo Makuti,ZBC Radio Zimbabwe (Radio SPECIAL)

During the coronavirus outbreak, Merck Foundation also supported the livelihood of women and casual workers families, the most affected by coronavirus lockdown through community donation.

Moreover, Merck Foundation in partnership withThe First Lady of Zimbabwetogetherwith Ministries of Health and Informationhad organized their Health Media Training to educate the media to raise awareness about breaking the infertility stigma and other critical social and health issues in Zimbabwe and the rest of Africa.A new edition of the Health Media Training will be organized soon.

Merck Foundation CEO also announced the Call for Applications for 2022 in partnership withZimbabwe First Lady, for their 8 important awards for Zimbabwean Media, Musicians, Fashion Designers, Filmmakers, students, and new potential talents in these fields.

The awards announced are:1.Merck Foundation Africa Media Recognition Awards More Than a Mother 2022Clickhereto view more details.2.Merck Foundation Film Awards More Than a Mother 2022Clickhereto view more details.3.Merck Foundation Fashion Awards More Than a Mother 2022Clickhereto view more details.4.Merck Foundation Song Awards More Than a Mother 2022Clickhereto view more details.5. Merck Foundation Media Recognition Awards 2022 Diabetes & HypertensionClickhereto view more details.6. Merck Foundation Film Awards 2022 Diabetes & HypertensionClickhereto view more details.7.Merck Foundation Fashion Awards 2022 Diabetes & HypertensionClickhereto view more details.8.Merck Foundation Song Awards 2022 Diabetes & HypertensionClickhereto view more details.

Submission deadline: 30thOctober 2022.Entries are to be submitted tosubmit@merck-foundation.com.About Merck Foundation More Than a Mother campaignMerck Foundation More Than a Mother is a strong movement that aims to empower infertile women through access to information, education and change of mind-set. This powerful campaign supports in defining policies and interventions to build quality and equitable Reproductive and Fertility Care Capacity, Break Infertility Stigma and Raise Awareness about Infertility Prevention and Male Infertility.In partnership with African First Ladies, Ministries of Health, Information, Education & Gender, academia, policymakers, International fertility societies, media and art, the initiative also provides training for Fertility Specialists and Embryologists to build and advance fertility care capacity in Africa and developing countries.With Merck Foundation More Than a Mother, we have initiated a cultural shift to de-stigmatize infertility at all levels: By improving awareness, training local experts in the fields of fertility care and media, building advocacy in cooperation with African First Ladies and women leaders and by supporting childless women in starting their own small businesses. Its all about giving every woman the respect and the help she deserves to live a fulfilling life, with or without a child.The Ambassadors of Merck Foundation More Than a Mother are:

H.E. NEO JANE MASISI, The First Lady of Botswana

H.E. REBECCA AKUFO-ADDO, The First Lady of Ghana

H.E. AISHA BUHARI, The First Lady of Nigeria

H.E. ANGELINE NDAYISHIMIYE, The First Lady of Burundi

H.E. CLAR WEAH, The First Lady of Liberia

H.E FATIMA MAADA BIO, The First Lady of Sierra Leone

H.E. BRIGITTE TOUADERA, The First Lady of Central African Republic

H.E. MONICA CHAKWERA, The First Lady of Malawi

H.E. MUTINTA HICHILEMA, The First Lady of Zambia

H.E. ANTOINETTE SASSOU-NGUESSO, The First Lady of Congo Brazzaville

H.E. ISAURA FERRO NYUSI, The First Lady of Mozambique

H.E. AUXILLIA MNANGAGWA, The First Lady of Zimbabwe

H.E. DENISE NYAKERU TSHISEKEDI, THE First Lady of Democratic Republic of Congo

H.E. MONICA GEINGOS, The First Lady of Namibia

H.E. FATOUMATTA BAH-BARROW, The First Lady of The Gambia

H.E. BAZOUM HADIZA MABROUK, The First Lady of Niger

The Former First Lady of Burundi, H.E DENISE NKURUNZIZA, The Former First Lady of Chad, H.E. HINDA DBY ITNO, The Former First Lady of Guinea Conakry, H.E. COND DJENE, The Former First Lady of Malawi, H.E. PROFESSOR GERTRUDE MUTHARIKA, The Former First Lady of Niger, H.E ASSATA ISSOUFOU MAHAMADOU and The Former First Lady of Zambia, H.E. ESTHER LUNGU have worked successfully with Merck Foundation as Merck Foundation More Than a Mother Ambassadors to break the stigma of infertility and empower infertile women in their countries.

Merck Foundation launched new innovative initiatives to sensitize local communities about infertility prevention, male infertility with the aim to break the stigma of infertility and empowering infertile women as part of Merck Foundation More than a Mother COMMUNITY AWARENESS CAMPAIGN, such as;

Merck Foundation More than a Mother Africa Media Recognition Awards and Health Media Training

Merck Foundation More than a Mother Fashion Awards

Merck Foundation More than a Mother Film Awards

Merck Foundation More than a Mother Song Awards

Local songs with local artists to address the cultural perception of infertility and how to change it

Children storybook, localized for each country

Click on the link below to download Merck Foundation Apphttps://www.merck-foundation.com/MF_StoreRedirection

Join the conversation on oursocial media platforms below and let yourvoice be heardFacebook:Merck FoundationTwitter:@MerckfoundationYouTube:MerckFoundationInstagram:Merck FoundationFlickr:Merck FoundationWebsite:www.merck-foundation.comAbout Merck FoundationThe Merck Foundation, established in 2017, is the philanthropic arm of Merck KGaA Germany, aims to improve the health and wellbeing of people and advance their lives through science and technology. Our efforts are primarily focused on improving access to quality & equitable healthcare solutions in underserved communities, building healthcare and scientific research capacity and empowering people in STEM (Science, Technology, Engineering, and Mathematics) with a special focus on women and youth. All Merck Foundation press releases are distributed by e-mail at the same time they become available on the Merck Foundation Website. Please visitwww.merck-foundation.comto read more. To know more, reach out to our social media:Merck Foundation;Facebook,Twitter,Instagram, YouTubeandFlickr.

To View the Image, Click on the Link Below:

Senator, Dr Rasha Kelej, CEO of Merck Foundation with H.E. Dr. AUXILLIA MNANGAGWA, The First Lady of Zimbabwe and the Ambassador of Merck Foundation More Than a Mother

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Merck Foundation CEO Acknowledged Zimbabwe First Lady's Efforts as Ambassador of More than a Mother to Build Healthcare Capacity, Break Infertility S...

Genetics

You and Your Doppelganger Might Have More in Common Than Just Looks – Gizmodo

Some of the lookalike pairs who were studied in the current research.Photo: Joshi, et al/Cell Reports

It turns out that unrelated doppelgangers may have quite a bit in common beyond just twin faces. New research suggests that lookalikes with incredibly similar faces tend to share many genetic variantsvariants that dont just seem to shape their appearance but general aspects of their life. At the same time, other important influences, such as the microbiome, appear to contribute little to their symmetry.

Study author Manel Esteller, a geneticist and director of the Josep Carreras Leukemia Research Institute (IJC) in Barcelona, Spain, is interested in what makes people the way they are. In 2005, he and his colleagues published research showing that identical twins werent as identical as they appear at first glance. While they had the same basic genetic patterns, they differed noticeably in their epigenetics: changes in how our genes express themselves, which are caused by environmental or behavioral factors, such as smoking or age.

In their new research, published Tuesday in Cell Reports, Estellers team wanted to look at the other side of the coinpeople who look so similar that they could be twins but arent actually related. To do this, they turned to the work of Canadian photographer Franois Brunelle, who has been documenting doppelgangers around the world as a long-running project. With his help, they were able to get in touch with 32 pairs of lookalikes who were willing to offer their time and a spit sample so that the researchers could take a peek at their DNA and other inner workings, such as the community of microbes living in their mouth.

Brunelles project relies on a subjective interpretation of peoples similarity. So to find the most identical non-identical people, Estellers team ran peoples photos through three different facial algorithms. Out of the original 32, 16 pairs were deemed to completely match by all three programs, and the researchers focused the bulk of their study on them.

In general, these pairs shared many single nucleotide polymorphisms (SNPs), which are the most common type of genetic variation in humans. Nine of the 16 were so genetically in-sync that they were considered ultra lookalikes. By contrast, however, the pairs epigenetics and oral microbiomes had relatively little in common.

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The results were that these lookalike humans had similar genetic sequences and are therefore like virtual twins, while their epigenetic and microorganism flora profiles differentiate them, Esteller said in an email to Gizmodo. Interestingly, he added, this genetic similarity didnt stop at facial appearance. Compared to non-lookalike pairs, for instance, doppelgangers were more likely to have similar levels of education, height, weight, and even smoking history.

The researchers took pains to make sure that the doppelgangers werent unknowingly closely related. While the pairs did tend to share the same country of origin or self-described ethnic background, they werent any more related to each other than pairs randomly selected from the same population, the team determined. Only one pair was suspected to possibly have had a common ancestor in the last several hundred years, while some pairs were living on wholly different continents.

Thus, we think that the generation of some genetic similarities between these couples occurred by random chance, Esteller said. There are so many people on the planet that the system is repeating itselfthe combinations of the genome are no longer infinite.

It may make sense that facial doppelgangers would have many genetic similarities, but the findings could offer new insights on the ever-running debate of nature versus nurture, Esteller noted. While our genetics seem to play a leading role in shaping our face and other aspects of who we are, both this study and Estellers earlier work indicates that genes arent the be-all, end-all.

Thus, nature is very strong, but nurture tunes up the genome a little bit, he said.

There may be other far-reaching implications of this and similar research. If its true that our genes are so influential to facial appearance, then it could very well be possible to someday accurately reconstruct the unknown face of a criminal though DNA left at a crime scene, the team argues. Health-wise, it could also be possible that a persons face would be able to provide clues about their genetics, including the presence of high-risk variants for diseases like diabetes or dementia.

These are two goals that Esteller and his team are interested in pursuing further. They also hope to expand their project to document more lookalikes and to study other factors that influence our lives, such as the transcriptome (how our RNA is expressed) and the proteome (the proteins that our cells actually make based on their genetic instructions).

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You and Your Doppelganger Might Have More in Common Than Just Looks - Gizmodo

Genetics

A legal defense grounded in genetics: Is DNA testing the magic wand to winning (or losing) a negligence case? – Genetic Literacy Project

Among the four elements required to establish liability for the tort of negligence is causation. In addition to proving that the defendant was careless or otherwise breached the legal standard of care, the plaintiff must establish that the wrongful conduct caused the harm the plaintiff suffers. This 1941 New Hampshire Supreme Court decision explains:

Necessary elements of a cause of action based on negligence are the causal negligence of the defendant plus the resultant harm to the plaintiff. Putting it another way, there must be negligence and harm and they must have a causal connection.

At the height of asbestos litigation, mesothelioma, a cancer of the lining of the pleural (lung) cavity or the abdominal cavity (peritoneal mesothelioma) was believed to be pathognomonic of asbestos exposure, meaning that the disease was a signal cancer of asbestos exposure, and only asbestos exposure. A diagnosis of the disease was tantamount to legal recovery (and virtually certain and swift death). No longer.

Today, it is recognized that mesothelioma has other causes, including erionite, another naturally occurring mineral used in pet litter, soil conditioners, animal feed, wastewater treatment, and gas absorbents. Radiation is also a recognized cause of mesothelioma, either from employment-related exposures, or older therapeutic uses which are now known to cause disease. And then there are causes we dont even yet know about as well as those arising spontaneously. These are known as idiopathic causes.

Asbestos exposure significantly declined beginning in the 1970s when the first OSHA asbestos laws were enacted. However, the incidence of mesothelioma, even with its notoriously long latency or delay period, is increasing in women, and has remaining constant overall. This lends credence to the fact that mesotheliomas arises from causes other than asbestos or even arises spontaneously, meaning the body needs no help from asbestos or anything else in generating them.

Of course, spontaneously does not mean magically or out of the blue. Rather, of the estimates that perhaps twenty to fifty percent of mesotheliomas dont arise from asbestos, it appears some are attributable to genetic misfirings, or mutations, that arise over time, some occurring as we age, and our defenses or repair mechanisms are no longer functioning optimally. (Think how slow your older computer worked compared to the new one you bought when old-trusty melted down.)

These genetic mutations are not necessarily inherited (although some are), but rather occur in clusters - or more rarely, singly due to natural causes or DNA breakage. The mutations can cause mesothelioma, either alone or by increasing susceptibility to minute exposures. The difference in the causal mechanism, however, has a huge impact on legal liability. And so it is that attention to genetics is now finding its way into the courtroom.

Courts are becoming more attentive to the need to establish that a potential carcinogen is responsible for causing the disease in a particular person, rather than based on its statistical or historical significance for a general population. Recently, in toxic tort cases, some courts are requiring a two-stage level of proof:

Specific causation requires showing that the plaintiff was exposed to a sufficient dose which is capable of causing the disease in that person. The application of this requirement is derailing some talc-mesothelioma cases.

But attention to the plaintiffs burden of proving specific causation is not the only monkey-wrench appearing in toxic tort cases these days. And not all courts are requiring specific quantification of plaintiffs exposure to prove causal-negligence, i.e, that the defendants asbestos caused the particular plaintiffs disease.

This situation invites another option for defense lawyers to protect their clients: genetics. And so we find defense lawyers turning to genetics to establish the defense that it wasnt exposure to asbestos per se, that caused the plaintiffs mesothelioma. Rather it was something else notably, something in their genes.

The genetic defense has found itself into other types of cases as well. And as we learn more about the genetic components of disease, we can expect to find its use burgeoning. Take the case of Bowen v. EI Dupont, in which the plaintiff alleged her retarded fetal growth and birth defects were caused by exposure to the fungicide Benlate during her gestation, when her mother was spraying houseplants.

The defendant obtained a court order to genetically test the plaintiff for a specific genetic variation (CHD7) that causes a specific condition (the CHARGE syndrome, a rare condition that causes birth defects), that resembled the plaintiffs condition. The defense argued that the mutated CHD7 was the sole and proximate cause of the plaintiffs condition a CHARGE syndrome-driven birth defect, a theory with substantial support in the record and substantiated in peer-reviewed literature. After the testing and finding the mutation present, the court dismissed the case.

In a similar case, Naomi Guzman v. ExxonMobil Corp, the plaintiff claimed that she was exposed to radioactive material as a bystander to her fathers work as an oil pipe cleaner. The court granted the defendants request for genetic testing of plaintiffs preserved thyroid tissue.

Genetic tests revealed both that the plaintiff did not have the genetic signature for radiation-induced cancer. It also revealed that plaintiff had several hereditary gene mutations predisposing her to thyroid cancer, leading the defenses expert-toxicologist to conclude her thyroid cancer was caused by her genetic predisposition and not exposure to her fathers drilling pipe. The jury agreed and sided with the defense.

Genetic defenses, however, must be used with care. In some cases, exposure to a chemical overwhelms multiple natural genetic repair mechanisms, leading to the cancer or disease. In those cases, the genetic defense may not work.

Thus, the failure of a genetic-defense mechanism to activate (or activation of a susceptibility gene) may not absolve the defendant, since it was the impact of exposure (to their asbestos or whatever chemical) that caused these genes to malfunction, and which in turn began the chain-reaction leading to the disease.

Instead, focusing on point mutations, where cancers occur as the direct result of a consequential change in a particular genetic set of alleles (subparts of a gene responsible for expression of a particular trait), independent of exposure, present the genetic alterations generating the most success in legal cases.

So far, two genes have been implicated as causally-related to mesothelioma in the absence of asbestos exposure. One, is a mutation on the AKL gene. While the discovery may not help plaintiffs in a legal setting, such discoveries do bode well for enhanced therapeutics and treatment.

Other studies have identified mutations on the BAP1 gene, discoveries that again bode well for possible treatment, although not necessarily for success in the legal setting. The BAPI gene is also related to several other cancers, including melanoma, so the causal connection is not one-on-one. But the BAP1 gene also has an additional effect- not only has it been related to direct causation of mesothelioma, it is also known to enhance susceptibility to prior exposures to asbestos. And that poses a legal problem.

The published findings do not establish a synergistic gene/environment interaction as a causal factor for the development of mesothelioma [and Bap1].,,, At present, it is estimated that between 1 and 8 percent of all spontaneous mesothelioma cases involve BAP1 germline mutations.

Bernier et al.

In law, the defendant is said to take the plaintiff as one finds him/her. That means if a plaintiff, by virtue of his or her individual make-up, is unusually susceptible to a condition, the defendant is still liable for all incident harms of their negligence. These include even those that might not have happened if the same wrongdoing was inflicted on a hardier plaintiff. (The term got its name from a case about running over a plaintiff with a skull as thin as an eggshell).

That maxim makes finding a BAP1 gene problematic. In some cases, the gene will render the plaintiff unusually susceptible to a small amount of exposure; in others it can cause mesothelioma, outright. Where the gene acts as a susceptibility gene, the defendant is still liable. Where it causes the disease outright, the plaintiffs case fails.

At the end of the day, the answer becomes a matter of fact for the jury to decide after listening to a battle of experts. But recent research shows that up to one-third of all cancers are produced by the bodys own mutation errors, and not by environmental causes. The complete genetic-cause defense would likely work best in cases of teenagers or women who were unlikely to have been exposed to significant levels of exposure.

To maintain a genetic defense, the plaintiff would have to petition the court to compel genetic tests of the plaintiff and sometimes the family to show a hereditary defect. Courts usually direct the plaintiff to submit to genetic testing (via blood test or tissue swipe), if the requested tests are particularized enough, although they will often reject requests to compel family-testing.

Is this forced test legal? Yes. First because such tests are not usually invasive; and second, by bringing the lawsuit, the plaintiff has put his condition into controversy and hence waives some rights.

To date, a few dozen personal injury cases have involved court-ordered genetic testing. Most courts have allowed it, especially as the tests are not painful, protracted, or intrusive. (Although, when the genetic tests are to be used for prospective or predictive purposes, such as medical monitoring or gauging the likelihood of future disease severity or longevity, the courts may not agree. In these cases courts often conclude that DNA tests are more speculative in prediction than identifying causal genes in those already suffering a disease).

Most important, however, a defendant who wants to compel a test must seekprecise information or evidence. In other words, like in any litigation discovery procedure, neither party is given largesse to go on a fishing expedition, for example by seeking reems of data, hoping to uncover an unanticipated smoking gun.

This objection wouldnt be typical in the asbestos cases, since specific and responsible genetic culprits have been identified. But we can see the abuse in other cases, notably birth-related negligence cases which often result in a surfeit of issues, such as brain damage, developmental issues, and physical disabilities. To be sure, such conditions can be caused by environmental exposures, poor pre-natal care, or even the birth process itself, especially if negligently performed.

In one birth-related negligence case, Fisher for XSF v. Winding Waters Clinic, the defendant sought a court order compelling the plaintiff to submit to genetic testing to confirm whether their impairments are more likely than not the result of a genetic condition unrelated to prenatal care

The problem was that the defendants had no specific condition in mind. They sought a WES (Whole Exome Sequencing) array meaning they wanted to look through the plaintiffs entire genomic vocabulary in the hopes of finding one or more errors to explain the condition. The court rejected the request.

Recognizing that overbroad requests promote the possibilities for abuse, including privacy violations or the potential to uncover genetic predispositions to numerous unrelated conditions, the court noted that the defendants request was particularly troubling.

Nevertheless, we can expect an onslaught of compelled genetic testing arising out of litigation to continue. As to where the results take us, thats an interesting and open- question. Perhaps the most curious case is the pending matter of Lohmann v. Aaon Inc. There, the defendants experts sought evidence of the BAP-1 disorder. Not only did they want to use it for the litigation, they wanted it for their own research purposes, as well.

Seems the value of these tests is greater than we might imagine. No word yet, on the legal resolution. But Id bet the judge denies the request.

Dr. Barbara Pfeffer Billauer, JD MA (Occ. Health) Ph.D. is Professor of Law and Bioethics in the International Program in Bioethics of the University of Porto and Research Professor of Scientific Statecraft at the Institute ofWorld Politics in Washington DC. Find Barbara on Twitter@BBillauer

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A legal defense grounded in genetics: Is DNA testing the magic wand to winning (or losing) a negligence case? - Genetic Literacy Project

Genetics

Genetics May Play a Role in Taste Preferences, Study Finds – Prevention Magazine

Whether youre someone who adds hot sauce to everything you eat or someone who requests mild sauce on the side, its clear that we all have different taste preferences. And though its frustrating when you have to tame a dish for a dinner guest or request a not-so-spicy option when ordering at a restaurant, new research may explain our taste preferences. The reason people love certain foods and dislike others is based off of than your culture, taste buds, or exposure to food as a childscience says its actually linked to our genetics.

The study, published in the journal Nature Communications, discovered hundreds of genetic variations that are linked to specific foods, including ones that can make you like or dislike foods like oily fish, avocados, chiles, and more.

In the large genetic study of food preferences, researchers from the University of Edinburgh looked at responses from more than 160,000 participants from the UK Biobank about the likes and dislikes of 139 different foods and beverages using a nine-point scale. Participants responded to questionnaires and researchers used genetic information to find if food groups or flavors were influenced by specific genetic traits.

Scientists found 401 genetic variations, many of which impacted multiple food-liking or disliking traits. Based on the results, the researchers created a food map that outlined three clusters of food tied to genetics: highly palatable, low caloric, and acquired foods.

These include genetic components that made people lean toward high-calorie (highly palatable) foods, like meat, dairy, and sweets. Another genetic component was linked to those who liked strong-tasting foods (acquired ) like alcohol and pungent vegetables. The third group of genetics is linked to people who are drawn to fruits and vegetables (low caloric).

Researchers noted that those who had genetics tying them to one category of food also shared genetics for specific health traits. For example, people who typically enjoyed highly palatable foods also carried gene variants connected to increased risk for obesity and lower activity levels. Whereas people who enjoyed strong-tasting foods often were genetically predisposed to lower cholesterol levels and higher physical activity, but a higher chance of high alcohol intake or smoking. And, those who leaned toward fruits and vegetables were genetically predisposed to perform more physical activity.

The research did indicate that those who were genetically predisposed to like vegetables didnt necessarily like all vegetables. Scientists found a weaker link to enjoying salad vegetables, cooked vegetables, and some stronger-tasting vegetables, like spinach and asparagus. Additionally, researchers indicated those who were predisposed to turn to higher-calorie, more palatable foods may have more going on than just genetics. They hypothesize after MRI scans that this may be more likely linked to the part of the brain involved in pleasure processing, according to the news release.

Our food preferences arent always within our control. This research may at some point aid in discovering ways to help people change their diet to achieve specific health goals, but in the meantime, its a great excuse to use when your taste preferences get in the way. After all, your genes tell you that you have to have some sriracha on top of your scrambled eggs.

Arielle Weg is the associate editor at Prevention and loves to share her favorite wellness and nutrition obsessions. She previously managed content at The Vitamin Shoppe, and her work has also appeared in Womens Health, Mens Health, Cooking Light, MyRecipes, and more. You can usually find her taking an online workout class or making a mess in the kitchen, creating something delicious she found in her cookbook collection or saved on Instagram.

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Genetics May Play a Role in Taste Preferences, Study Finds - Prevention Magazine