Category Archives: Genetics

International treaty agreed on handling genetics in patents – Research Professional News

World Intellectual Property Organization signs first new treaty in a decade

A global treaty has been agreed that says applicants for patents involving genetic resources, such as drugs based on a substance produced by a plant, must reveal the origins of those genetic resources.

Patent applicants will be required to disclose the country of origin or source of the genetic resources under the treaty approved by member states of the World Intellectual Property Organization (Wipo) on 24 May.

They must also disclose any basis on Indigenous knowledge.

It is the first Wipo Treaty to be agreed in more than 10 years and also the first that includes genetic resources and Indigenous knowledge.

Best possible compromise

Wipo director general Daren Tang said that the treaty made history in many ways. He said it was showing that the intellectual property system can continue to incentivise innovation while evolving in a more inclusive way, responding to the needs of all countries and their communities.

Brazilian ambassador Guilherme de Aguiar Patriota, who brought the gavel down on the agreement, called the treaty a very carefully balanced outcome.

It constitutes the best possible compromise and a carefully calibrated solution, which seeks to bridge and to balance a variety of interests, some very passionately held and assiduously expressed and defended over the course of decades, he said. Negotiations on the treaty started in 2001.

Member states cheered and applauded as the treaty was agreed on Friday last week. Wipo has 139 member countries, including the United States, China, India,Japan, Germany, France and the UK.

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International treaty agreed on handling genetics in patents - Research Professional News

Nebraska team identifies new genetic defect impacting cattle morbidity and meat quality – Beef Magazine

Cattle have long been a cornerstone of agriculture, providing us with milk, meat, and various other products that nourish and sustain our communities. Ensuring the cattles health and optimal muscle development is vital when producing high-quality beef. However, various genetic conditions can disrupt muscle metabolism, affecting animals well-being and the quality of the meat they produce.

Researchers at the University of Nebraska Lincoln have discovered a new defect in composite cattle (Simmental, Red Angus, Gelbvieh) that often caused physical collapse when they exercised, with some calves unable to recover. This is an autosomal recessive genetic defect, which means both parents of affected calves must carry one copy of the mutation.

Herd managers at the UNL Gudmundsen Sandhills Laboratory noticed calves from one to six months old lagging behind the herd when moving between pastures. When they increased their pace, calves would collapse and remain at rest for brief periods of time. Pedigree analysis revealed a common herd bull in the sire pedigree of each affected calf. Pedigrees of the dams were unavailable, but heifers were retained as replacements within the herd and were sometimes mated to related bulls. This led to the possibility of inbreeding and suggested that a recessive genetic variant may be responsible for exercise intolerance in these calves.

The herd had undergone routine genotyping as part of the Integrated Beef Systems Initiative Genomics Infrastructure project, enabling a rapid genomic-based approach to finding the causative mutation. A genome-wide association study on 721 animals, including six affected calves, and whole-genome sequencing on two affected calves pinpointed a significant region on chromosome 29. One mutation, not previously identified in this region, waspredicted to truncate the protein product of the genePYGM(glycogen phosphorylase). Due to the expected impact of this variant on the myophosphorylase protein encoded byPYGMand the identification of a previously discoveredPYGMvariant in Charolais cattle, this variant was prioritized for follow-up studies.Next, 381 cattle, including eight affected calves, were genotyped for this variant.In every case, both parents of the affected calf were found to carry one copy of the mutation,and each affected calf had two copies, as we would expect for a recessive genetic variant.

The myophosphorylase encoded byPYGMplays a vital role in breaking down glycogen into usable energy, fueling muscles for sustained activity. Imagine coins (glycogen) collected and saved in a piggy bank (muscle). Myophosphorylase is the key that opens the piggy bank when animals need more energy. If myophosphorylase is absent or not functioning properly, the breakdown of glycogen is compromised, and the energy is not accessible, leading to difficulties in physical activity and muscle damage.

The affected calves showed a significant increase in glycogen stored in skeletal muscle, almost twice as much as the normal and carrier animals. Additionally, the affected calves had elevated creatine kinase before and after forced exercise. This is an essential enzyme that aids in energy production during muscle contraction. Elevated creatine kinase is often a sign of muscle damage or stress. The calves also experienced twitching in their hind limbs and biopsies showed visible signs of muscle damage. Despite these muscle-related issues, microscopic examination of other organs revealed no abnormalities.

The myophosphorylase protein was found in the healthy animal but noticeably missing in the affected calf. This outcome aligned with an additional test, where specific antibodies were used to identify thePYGMprotein in the muscle. The normal calf displayed a positive result with red pigmentation (Figure 1A), while the affected calves distinctly lacked thePYGMprotein (Figure 1B).

Figure 1.(A) Stain for myophosphorylase protein (red color) in a normal calf. (B) Stain for myophosphorylase protein in an affected calf.

The inability to efficiently break down glycogen not only compromises the well-being of the animals but also negatively impacts the quality of the meat they produce. Breaking down stored glycogen efficiently after an animal is harvested is crucial for making high-quality beef. In the absence of myophosphorylase, glycogen breakdown is restricted, hindering the expected decrease in pH. Consequently, the affected calves are labeled as dark-cutters, exhibiting dark-red meat that may have a purplish hue instead of the desired vibrant cherry-red color (Figure 2). This adversely influences consumer perception, shortens the products shelf life, and leads to economic losses. It is important to note that there were no significant disparities in meat quality in the animals carrying only one copy of the mutation.

Figure 2. Ribeye from an affected calf 24 hours after harvest.

Mutations in the same gene in humans result in a disease similar to what is observed in these cattle, termed McArdle disease. Individuals with McArdle disease experience muscle fatigue and weakness during physical activities, making it difficult to complete tasks requiring sustained effort. Affected individuals can live relatively normal lives by adjusting diet and exercise. However, doing the same for cattle, especially those raised for production, is less practical and achievable. Additionally, the economic benefits of managing this condition in cattle is limited due to the impact on product quality.

This recessive condition significantly affects muscle metabolism, raising concerns about animal welfare and introducing economic challenges in raising livestock. These repercussions can affect the survival of animals and, subsequently, the quality of the meat they produce at harvest. While the issue of dark-cutting beef is not new, understanding the underlying genetic factors at play is limited. This study stands out as one of the initial efforts to pinpoint a specific genetic mutation linked to this condition, paving the way for future research into the genetics of dark-cutting beef. Even though animals carrying one copy of this mutation do not show an immediate negative impact on the beef industry, it is imperative to identify them in breeding herds to prevent the production of affected calves. This comprehensive understanding is crucial for the well-being of the animals and the quality assurance of the final product.

This collaborative effort involved UNL students and faculty across disciplines including graduate student researchers Mackenzie Batt, Leila Venzor, Rachel Reith, and Nicolas Herrera, Dr. Jessica Petersen and Dr. Matt Spangler in animal breeding and genetics, Dr. Gary Sullivan in meat science, and Dr. David Steffen with the UNL Veterinary Diagnostic Center. The full paper was published inBMC Genomicsand is available at: https://link.springer.com/article/10.1186/s12864-024-10330-1#citeas.

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Nebraska team identifies new genetic defect impacting cattle morbidity and meat quality - Beef Magazine

Exploring the wonders of molecular biology – Drug Target Review

In this episode, we explore our understanding of DNA and its implications for health outcomes. Additionally, we discuss the transition from DNA sequencing to actionable insights in medicine, contrasting genetics-driven drug discovery with traditional methods. Finally, we examine the evolving landscape of genetic technology and its potential impact on the future of medicine.

Bringing their expertise, we are thrilled to introduce Dr Matthew Nelson, Vice President, Genetics and Genomics, Deerfield Discovery and Development and CEO at Genscience and Dr Jake Rubens, President of Quotient Therapeutics and Origination Partner at Flagship Pioneering.

This podcast is in association with Molecular Devices. With its innovative life science technology, Molecular Devices makes scientific breakthroughs possible for academic, pharmaceutical, government and biotech customers. Head tomoleculardevices.comto find out more.

About the speakers

Dr Matthew Nelson

Vice President, Genetics and Genomics, Deerfield Discovery and Development and CEO at Genscience

Matthew Nelson, Ph.D., is a Vice President, Genetics and Genomics, Deerfield Discovery and Development, and joined the firm in 2019. He is also Chief Executive Officer of Deerfields affiliate, Genscience, a tech-focused company to improve integration of genetic evidence into drug discovery. Prior to joining Deerfield in 2019, Dr Nelson spent almost 15 years at GlaxoSmithKline and was most recently the Head of Genetics. Prior to GlaxoSmithKline, Dr Nelson was the Director of Biostatistics at Sequenom. He is co-author on >80 publications, including several cited >1,000 times. He began his career as an information scientist at Esperion Therapeutics. Dr Nelson was an Adjunct Associate Professor of Biostatistics at the University of North Carolina from 2010 to 2016. He holds a Ph.D. in Human Genetics and an M.A. in Statistics from the University of Michigan and obtained his B.S. in Molecular Biology from Brigham Young University.

Dr Jacob Rubens

President of Quotient Therapeutics and Origination Partner at Flagship Pioneering

Jacob is the president of Quotient and an Origination Partner at Flagship Pioneering. He is a scientist entrepreneur and leads a team that founds, builds, and grows companies based on new biotechnology.

At Flagship, Jake co-founded Sana Biotechnology and Tessera Therapeutics, and launched Kaleido Biosciences. In addition to his role at Quotient,Jake is the chief innovation officer and founding chief scientific officer at Tessera, where he led research from2018through2021. Previously, Jake was the head of innovation at Cobalt Biomedicine, where he co-invented and developed the companys Fusosome platform prior to its merger with Sana Biotechnology.

Before joining Flagship, Jake received his PhD in microbiology fromMIT, working in the Synthetic Biology Center with Professor Tim Lu with the support of aNational Science Foundation Graduate Research Fellowship. AtMIT, Jake invented gene circuits that allow engineered cells to do novel analog, digital, and hybrid computations, enabling the emerging field of intelligent cell therapies.

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Exploring the wonders of molecular biology - Drug Target Review

30 Years After Genetic Discovery, Huntingtons Patients Still Waiting – BioSpace

Pictured: a collage of genetic indicators surrounding a patient with Huntingtons disease/ Nicole Bean for BioSpace

Its 100 percent fatal, hits patients in the prime of their lives, then gets passed down to 50 percent of the next generation. Thirty years after the discovery of the huntingtin gene, the biopharma industry is still searching for an effective treatment for Huntingtons disease.

Within the past few years, Roche and Wave Life Sciences have experienced high-profile failures in the space, and in late 2022, Triplet Therapeutics, a young startup with an approach targeting Huntingtons and other genetic diseases, closed its doors, and precision genetics medicine biotech NeuBase Therapeutics halted development of its Huntingtons program.

Symptomatic treatments exist for Huntingtons disease, which is caused by a CAG repeat in the first exon of the huntingtin (HTT) gene, but to date, no disease-modifying drug has made it across the finish line.

Rudolph Rudy Tanzi was part of the team that identified the Huntingtons gene chromosome in 1983. At the dawn of the genomic revolution, it was the first gene to be mapped to a human chromosome without any prior indication of the genes location. You had no idea what chromosome it was on, you had no idea what the protein defect was, Tanzi, now a professor of neurology at Harvard Medical School and Massachusetts General Hospital, told BioSpace. The search, which Tanzi compared to looking for 12 pieces of hay in 23 haystacks, took two years.

Instrumental to the discovery was a large group of patients in Venezuela. Huntingtons disease was evident in more than 12 families in this country, each with 10 or 11 children, Tanzi said. Once we had [those families], we tested that same DNA marker from chromosome 4, and that sealed it . . . . It was clear wed found the gene.

Ten years later, the pathogenic mutation in the huntingtin gene was identified as a CAG-repeat expansion. This mutation causes brain cells to die, leading to a host of progressive cognitive, psychiatric and movement disorders.

Theres been a lot of progress on mechanism, said Michael Hayden, CEO and founder of Prilenia Therapeutics, who was also involved in early linkage studies. Prilenia is developing treatments for Huntingtons and other neurodegenerative diseases. But . . . from the time you define mechanism to the time you have a drug can take twenty years.

Thirty years on, the search for a disease-modifying drug for Huntingtons continues.

After discovering the genetic driver for Huntingtons, researchers delved into the roles of the healthy and mutant HTT proteinsbiology that Paul Bolno, president and CEO of Wave Life Sciences, said has been interesting. We really realized that Huntingtons disease, in a lot of ways, is both a toxic gain of function and a toxic loss of function.

One challenge, Hayden told BioSpace, is that gene-silencing therapies, such as Roches tominersen, also knocked down the wildtype HTT (wtHTT) protein, which may be neuroprotective.

The pan-silencing hypothesis holds that there is a therapeutic window in which it is possible to reduce mutant HTT (mHTT) protein and concomitantly not reduce the wildtype HTT protein and keep that balance, explained Anne-Marie Li-Kwai-Cheung, Waves chief development officer, who previously led the tominersen efforts at Roche.

In a pan-silencing approach, you are succeeding, hopefully, in taking down the toxic protein, she told BioSpace. But the other half of the disease, which is a toxic loss of function, is that the wildtype [HTT] that you inevitably take out at the same time is actually really essential.

The question, Hayden posed, is would it not be better to have an allele-specific knockdown? This is the approach being taken by Wave. The companys next-generation antisense oligonucleotide (ASO) WVE-003 is designed to preferentially lower mHTT protein levels by targeting a single nucleotide polymorphism that appears on the mHTT transcript.

It is possible theres a therapeutic window, but if you can approach the problem more elegantly by being selective, that is by far the better approach in my opinion, Li-Kwai-Cheung said.

Delivery can also be a challenge, Hayden said. Intrathecal treatments, which are administered into the spinal canal, can also fail because you may not get target engagement or sufficient target engagement because you have to get from the CSF all the way deep into the center of the brain, Hayden said.

This was the case with Waves first-generation ASOs, according to the companys then chief medical officer, Michael Panzara.

Bolno believes Wave has solved this issue with WVE-003 in the form of a chemical modification to its platform. The PN chemistry weve been using . . . has really transformed what weve seen not just in terms of exposure [and] target engagement but durability, he said.

In September 2022, Wave presented data from the Phase Ib/IIa SELECT-HD trial showing a mean decrease in mHTT from baseline of 22% at 85 days. The mean reduction relative to placebo was 35% at 85 days after a single 30 mg or 60 mg. The company expects to share data from the 30 mg multi-dose cohort this quarter.

Prilenia is taking still another approach with pridopidine, a pill containing what the company describes as a highly selective and potent agonist of the sigma-1 receptor (S1R) protein, which is highly expressed in the brain and spinal cord and regulates several key processes that are commonly impaired in various neurodegenerative diseases.

Last month at the 75th American Academy of Neurology (AAN) Annual Meeting, Prilenia shared that pridopidine missed the primary endpoint, change from baseline compared to placebo at 65 weeks as measured by the Unified Huntington Disease Rating Scale-Total Functional Capacity score, in the Phase III PROOF-HD study. The drug also failed the key secondary endpoint, measured by the Composite Unified Huntingtons Disease Rating Scale.

Still, Hayden is optimistic as effects on both of these measures were reduced by the use of concomitant medications, according to the companys press release. A prespecified analysis that excluded participants taking neuroleptics and chorea medications showed clinically meaningful and nominally significant benefits with pridopidine.

When we looked then at those off of anti-dopaminergics [which includes neuroleptics], then we got a very different picture, Hayden said. In terms of total functional capacity, these patients remained stable for at least a year, and in terms of motor function and cognition, we saw improvement, he said. That was exciting because no [Huntingtons] drug had ever shown improvement in any of these functions.

Hayden additionally noted that the pridopidine is completely safe. There were no serious adverse events, and its . . . easy to take. When you look at risk-benefit, there is no risk and essentially patientsnot everybody, but many patientsderive benefit.

On the strength of these data, European regulators have encouraged Prilenia to submit a Marketing Authorization Application for approval, Hayden said, which the company plans to do by the end of July.

Its taken a long time, Hayden said, but the good news now is that Huntingtons disease has attracted the attention of pharma and biotech, big and small . . . and its recognized, sadly, that this is a disease that has been described as the worst disease known.

Li-Kwai-Cheung predicted there would be a disease-modifying therapy for Huntingtons within 5 to 10 years. Sometimes people get this feeling of like, its just futile and were not going to get there. But I dont think thats true, she said. I think all of these experiments have served a purpose to move the field forwards, and we really are on like the cusp as a field of getting a therapeutic to the market in [Huntingtons disease].

And once that happens, Weve seen in lots of different neurological spaces that that first approval really acts as an incredible catalyst and more drugs come after that as well.

Heather McKenzie is a senior editor atBioSpace. You can reach her atheather.mckenzie@biospace.com. Also follow her onLinkedIn.

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30 Years After Genetic Discovery, Huntingtons Patients Still Waiting - BioSpace

Genetic research: possibilities and risks Exaudi – Exaudi

The Bioethics Observatory of the Catholic University of Valencia (UCV) invites an in-depth analysis of genetic research at the conference Genetic research: possibilities and risks. An approach from bioethics. This event, which will take place on July 4, 2024, at the UCV San Juan y San Vicente headquarters (18 Jorge Juan Street), will bring together experts from various fields to explore the ethical implications of scientific advances in this area.

In-person attendance at the congress requires prior registration, but the possibility of following it online will also be offered through the following link: https://youtube.com/live/.

The advancement of genetic research constitutes one of the spearheads of biomedical sciences and opens up enormous application possibilities in the fields of bioengineering, editing, and gene therapies. In parallel, with the development of these new tools, new bioethical dilemmas arise related to their fields of application, their safety and effectiveness, and regulation and control needs that urgently need to be addressed.

In our congress we propose a scientific approach to the current state of genetic research, analyzing the most recent evidence, such as that related to epigenetic processes, the therapeutic applications of the editing processes and obtaining mini human organs through bioengineering procedures, the aspects ethics of the heritability of potential changes and the need for ethical and legal regulation of related practices.

A prestigious team of expert researchers in each of these areas will provide us with updated access to this evidence that allows its bioethical assessment based on scientific rigor.

It is aimed at researchers, teachers, students and anyone with an interest in the field of Bioethics, and especially in genetics.

REGISTRATION HERE

PROGRAM

10:00. Institutional inauguration

10:15. Round Table: Epigenetics and genome editing: A scientific update

Ethics and epigenetics.

Luis Franco. Full member of the Royal Academy of Sciences of Spain and the Royal Academy of Medicine of the Valencian Community. University of Valencia.

10:45. Genome editing. Therapeutic advances and bioethical uncertainties.

Nicolas Jouve. Emeritus Professor of Genetics, former member of the Bioethics Committee of Spain.

11:15. Colloquium

Moderator:Luca Gmez Tatay. Professor of cell biology, biochemistry and bioethics. Catholic University of Valencia.

11:30. Coffee Break

12:00. Round Table: Bioengineering and gene therapy

Deciphering the potential of human mini-organs in the laboratory through ethics and bioengineering.

Nria Montserrat. ICREA research professor and principal researcher at the Institute of Bioengineering of Catalonia (IBEC).

12:30. Advances in the therapeutic application of gene editing systems based on CRISPR. Juan Roberto Rodrguez-Madoz. Researcher of the Hemato-Oncology Program. TOP. University of Navarra.

13:00. Colloquium.

Moderator:Jos Miguel Hernndez Andreu. Professor and researcher of biochemistry and molecular biology. Catholic University of Valencia.

16:15. Round Table: Ethical limits in genetic manipulation

Heritable gene editing in humans and future generations.

Vicente Bellver. Professor of Philosophy of Law at the University of Valencia. President of the Bioethics Committee of the Valencian Community.

16:45. Regulating gene editing: principles versus rules.

Federico de Montalvo. Vice Chancellor of Institutional Relations and Secretary General of the Universidad Pontificia Comillas.

17:15. Gene editing: what should really scare us?

igo De Miguel. Research Group of the Chair of Law and Human Genome of the Department of Public Law. University of the Basque Country Euskal Herriko Unibertsitatea.

17:45. Colloquium

Moderator:Mara Jos Salar. Coordinator of the Philosophy Degree. Professor at the Faculty of Economic and Social Legal Sciences of the Catholic University of Valencia.

18:00. Closure. Mr. Julio Tudela. Director of the Bioethics Observatory of the Catholic University of Valencia.

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Genetic research: possibilities and risks Exaudi - Exaudi

Study shows effect of ‘interaction’ on epigenetic marking in… – Parkinson’s News Today

Genetic variations along with exposure to environmental factors, such as pesticides, may increase Parkinsons disease in a sex-dependent manner, a study of French farmworkers suggests.

Most cases of Parkinsons disease dont arise from a single factor, but rather a combination of a persons genes, lifestyle, and what theyre exposed to in the environment, Michael Kobor, PhD, who co-led the study from the University of British Columbia (UBC) in Canada, said in a university press release.

Studies like ours provide building blocks for investigation of personalized risk profiles for Parkinsons disease and biomarkers for earlier diagnosis, said Samantha Schaffner, PhD, a postdoctoral fellow at UBCs Edwin S.H. Leong Centre for Healthy Aging, who noted that, while its too early to know if the findings will hold true when looking at larger pools of data, in the future, [scientists] may be able to estimate someones risk level based on their sex, genetics and lifestyle, and provide tailored guidance on prevention.

The study, Genetic variation and pesticide exposure influence blood DNA methylation signatures in females with early-stage Parkinsons disease, was published in npj Parkinsons disease by Kobors team in collaboration with researchers in France.

How Parkinsons starts is unclear, but growing evidence points to how genetics and a number of environmental factors, such as breathing in or having contact with pesticides, may come together to cause the disease.

While there has been a great deal of research into each of these factors on their own, we have a limited understanding of how they interact with each other, said Kobor, a Canada research chair in social epigenetics, who is leading efforts to establish a link between genetics and pesticide exposure. Were working to bring these pieces of the puzzle together to gain a better understanding of how Parkinsons develops, whos most at risk, and how we can prevent it.

The study included 71 people with early-stage Parkinsons and 147 people without it who were enrolled with TERRE, a health database of French agricultural workers that contains a detailed history of pesticide exposure.

People exposed to pesticides used in farming are at a higher risk for developing Parkinsons and those who live or work near areas with higher levels of certain pesticides are more likely to see their symptoms get worse faster.

Here, the researchers focused on DNA methylation and how its patterns change in women versus men with Parkinsons. In DNA methylation, chemical marks on DNA can indicate whether genes are turned on or off, that is, how the information in genes is used by cells without changing the genetic code itself.

After scanning more than 42,000 regions of DNA from blood samples, the researchers found that DNA methylation linked to early-stage Parkinsons was spread across 69 regions in women and only two in men.

In women, DNA methylation mapped to genes related to cell signaling, protein production, and ion transport. In men, those epigenetic changes mapped to genes related to protein breakdown or recycling and the transport of ions within cells.

To validate their findings in women, the researchers downloaded the PEG1 (GSE111629) and SGPD (GSE145361) datasets from a public database. They found a significant match in DNA methylation between TERRE and PEG1 along with a French database called DIGPD, but not between TERRE and SGPD.

For 48 of the 69 regions targeted by DNA methylation in women, genetics alone provided the best explanation for the epigenetic changes previously attributed to Parkinsons, but pesticide exposure also contributed, especially when it interacted with genetic factors.

These findings highlight the complex interactions between genetic and environmental factors, Schaffner said. Having certain genetic variations may only increase Parkinsons disease risk in the context of an environmental exposure like pesticides, and they might have a sex-dependent effect on risk.

While this study may help lead to a more personalized approach to Parkinsons based on a persons genetic makeup, the findings should be further explored in larger study populations and in experimental systems, preferably with precise measures of exposure, the researchers said.

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Study shows effect of 'interaction' on epigenetic marking in... - Parkinson's News Today

The same genetic mutations behind gorillas’ small penises may hinder fertility in men – Livescience.com

Silverback gorillas are famous for their impressive, bulging physiques and their rather modest genitalia. Now, scientists have uncovered a potential genetic link between these apes' small members and infertility problems in male humans.

Coming in at just 1.1 inches (3 centimeters) long, on average, the penis of the adult male gorilla (Gorilla) is the smallest phallus of all apes. The gorilla's genital size comes with other deficits in its reproductive capacity, such as low sperm count compared to other primates, and sperm with poor motility and a diminished ability to bind to eggs.

Given that these are reproductive issues that can also affect humans, it may seem surprising that all male gorillas share these traits. However, this can be explained by gorillas' mating system, said Jacob Bowman, lead author of the new study and a postdoctoral researcher at the University at Buffalo.

Gorillas operate in a polygynous system, in which a dominant male has near-exclusive access to females in his troop. The silverback's unwieldy physique means it has no problem securing mates, and thus, its sperm doesn't have to compete with that of other males and it can produce offspring without many, highly motile swimmers. The theory is that this lack of sperm competition led to the evolution of gorillas' small genitalia.

Related: Move over, Viagra this spider's boner-inducing venom could treat people let down by the blue pill

This got researchers "wondering if, at a genetic level, we can find genes associated with spermatogenesis [sperm production] or that we see leading to poor-quality sperm," Bowman told Live Science. Gorillas and humans share the vast majority of the same genes so if the researchers could pinpoint suspect genes in gorillas, they could next turn their attention to the human genome.

Roughly 15% of U.S. couples have trouble conceiving, according to Yale Medicine, and more than half of those cases involve male infertility. Around 30% of infertility cases have a genetic basis, said Vincent Straub, a doctoral student in population health at the University of Oxford who was not involved in the new study. However, the genes involved in male infertility are poorly understood.

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To help unravel those genetics, Bowman and colleagues combed through a database of more than 13,000 genes across 261 mammals. This involved looking at genes' underlying sequences, to see how they changed over time in related animals. The aim was to see if certain genes in the gorilla branch of the tree of life were evolving at dramatically reduced rates, Bowman said.

This can happen when there isn't strong pressure to get rid of genetic mutations that could hinder a population's survival such as those related to gorillas' low-quality sperm. This process, called "relaxed purifying selection," can result in seemingly harmful mutations becoming common in a species.

The data turned up 578 genes in the gorilla lineage that underwent this type of selection. An analysis and existing data suggested that many of these genes are involved in making sperm. However, not all the flagged genes had known roles in male fertility.

To better understand these genes' functions, the team turned to the fruit fly (Drosophila melanogaster), a commonly used genetic model in biology. They systematically silenced each of the genes in male flies to see if they affected the insects' ability to reproduce. In this way, they uncovered 41 new genes that hadn't previously been tied to male fertility.

The researchers then connected the dots back to humans using a genetic database with data from 2,100 men with infertility, who either had very low amounts or a lack of sperm in their semen. They also looked at data from fertile men, focusing on the genes they'd flagged in gorillas. They found that, in 109 of relaxed gorilla genes, the infertile men carried more loss-of-function mutations than did fertile men; loss-of-function mutations reduce a gene's ability to make the protein it codes for.

While it's likely these genes are involved in human male fertility, more research is needed to learn exactly how they work in the body. Straub emphasized that infertility is very complex, and that not all of it comes down to genetics. To fully understand it, scientists need to account for how different genes interact with one another and with an organism's environment and its behavior.

The findings drawn from gorillas open the door to future explorations about how these genes, and others closely associated with them, might influence fertility in people, Straub said. The study was published May 9 in the journal eLife.

Ever wonder why some people build muscle more easily than others or why freckles come out in the sun? Send us your questions about how the human body works to community@livescience.com with the subject line "Health Desk Q," and you may see your question answered on the website!

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The same genetic mutations behind gorillas' small penises may hinder fertility in men - Livescience.com

Genetics reveals surprising origin of the German cockroach – Cosmos

The German cockroach lurks in human homes, cities, and structures worldwide. You wont find it crawling through natural habitats its entirely domesticated.

The pest species, Blattella germanica, was first recorded in central Europe about 250 years ago. But its origin and spread has remained a mystery until now.

But a team of researchers has now confirmed the species evolved from the Asian cockroach Blattella asahinaiabout 2,100 years ago and probably did this by adapting to human settlements in India or Myanmar.

We found that the sequence for the German cockroach was almost identical to that of B. asahinai, a species native to the Bay of Bengal, from east India to Bangladesh and into Myanmar, says Theo Evans of the University of Western Australia, who co-authored the study published inProceedings of the National Academy of Sciences.

Genomic analysis of DNA collected from 281 cockroaches, from 17 countries across 6 continents, revealed 2 routes through which the species spread across the globe.

We found an early spread route around 1,200 years ago, which was from eastern India westwards, likely from increasing trade and military activities of the Islamic Umayyad or Abbasid Caliphates, says Evans.

The next spread route was eastwards around 390 years ago into the Indonesia archipelago, likely facilitated by various European East India Companies.These companies traded spices, tea, cotton and other products within South and Southeast Asia, and back to Europe.

We estimated that German cockroaches arrived in Europe about 270 years ago, which matches the historical records from the Seven Years War. From Europe the German cockroach spread to the rest of the world, around 120 years ago, probably from faster transportation on steam ships.

B. germanica grows to about 1.1-1.6 centimetres long and varies in colouration from tan to almost black. They are omnivorous scavengers attracted to meats, starches, sugars and fatty foods.

To survive, cockroaches have to avoid being seen by humans. German cockroaches have evolved to be nocturnal, avoid open spaces, and although it retained its wings it has stopped flying, says Evans.

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Genetics reveals surprising origin of the German cockroach - Cosmos