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ACTRIMS Forum 2017 to Focus on Diet, Genetics, and the Microbiome in MS – Medscape

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ACTRIMS Forum 2017 to Focus on Diet, Genetics, and the Microbiome in MS - Medscape

Free embryology workshop offered – The Union of Grass Valley

An embryology workshop for educators will be offered 4:30 to 6 p.m. Feb. 28 by the University of California Cooperative Extension of Placer County.

The agency has conducted the Embryology Outreach Program for 20-plus years. Teachers throughout the county reaching 4,000 youth in the past year have utilized this program.

Come and learn to teach the development of life science skills through Embryology. The free workshop will be at the Placer County UCCE Office, located at 11477 E Ave., (Building 306, DeWitt Center) in Auburn.

The embryology project provides numerous opportunities for young children to learn, through observation and hands-on activities, the value of life as well as information about chickens, ducks, eggs, and embryonic development. The lesson can be adapted for use in school classrooms, home schools, after school programs, and 4-H or other organization project meetings.

Registration for the workshop is at http://ucanr.edu/survey/survey.cfm?surveynumber=19563. The deadline to register is Monday or call the Placer County UCCE Office at (530) 889-7385

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Free embryology workshop offered - The Union of Grass Valley

Norfolk County 4-H offers embryology project resources – Wicked Local Dedham

The Norfolk County 4-H office has announced that they will be continuing to work with local educators who teach youth in grades kindergarten and up by providing resources for embryology science projects.

The Norfolk County 4-H office has announced that they will be continuing to work with local educators who teach youth in grades kindergarten and up by providing resources for embryology science projects.

Curriculum, supplementary materials and posters explore embryology from incubation to hatching and incorporate activities that focus on reinforcing the scientific method of learning. Preregistration by April 14 is required for participation in this popular program.

Fertilized eggs will be available for pickup on April 25 in Walpole when pre-ordered. Incubators will also be available for rental.

For more information on how to register for the Embryology Program, or how you can become involved in 4-H as a member or volunteer, contact the Massachusetts 4-H Office at 508-668-9793 or email 4-H Educator Jay Field at jfield@umext.umass.edu.

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Norfolk County 4-H offers embryology project resources - Wicked Local Dedham

Leader comment: Clarity needed on gene science – The Scotsman

The Norrie Russell Roslin Institute has revealed they have created a group of genetically modified hens that can lay eggs from different poultry breeds and are helping scientists set up a "frozen aviary" to conserve rare and exotic birds.

06:00 Saturday 18 February 2017

The uses to which genetic modification can be put seem almost limitless. Today we report on Scottish scientists who are using genetically modified hens that can lay eggs from different poultry breeds to create a frozen aviary to conserve rare and exotic birds.

The team from the University of Edinburghs Roslin Institute say it acts like a seed bank for poultry, and will be used to preserve rare chicken breeds that may be resistant to infections such as bird flu or have desirable traits such as high meat quality.

But this type of science in all fields is not without controversy. Recently the Human Fertilisation and Embryology Authority gave the go-ahead for clinics to apply to create three parent babies. The approved technique allows doctors to replace an eggs defective mitochondrial DNA with healthy DNA from a female donor to prevent children suffering debilitating conditions such as muscular dystrophy. It was described as opening the way for designer babies.

And the Scottish Government is opposed to the cultivation of GM crops in this country saying they could damage Scotlands rich environment and would threaten our reputation for producing high quality and natural foods.

It is clear that genetic modification holds out the promise of massive advantages in many fields. It is also clear that there are deep-seated concerns about some possible unforeseen side-effects. But it seems that the opportunities might be sliding by while the debate and the opening up of information simply is not happening. The potentials around this new science are so vast that the debate really does need to be front and centre.

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Leader comment: Clarity needed on gene science - The Scotsman

Sorry pro-abortionists there is no debate about when life begins – National Right to Life News

Editors note. Written by Paul Stark, this appeared on the blog of Minnesota Citizens for Life (MCCL), National Right to Lifes state affiliate. While this ran a while back, it rebuts an error that refuses to go away: the insistence that there is a debate about when human life begins.

At the Idaho Statesman Journals science blog, Susie Bodman (at the time an editor at the paper) responds to the pro-life contention that life begins at conception:

As a biology student, Im sorry, but the stipulation that life begins at conception is laughable to me. However, its not for reasons you might assume that Im a godless scientist-in-the-making, a stereotypically liberal journalist, a pro-choice protagonist, a fire-breathing feminist or whatever else you might conjure up.

It comes from how biologists define life and distinguish it from inanimate things, such as rocks. Living organisms are characterized by having the capacity for growth, reproduction, functional activity and continual change.

A single cell is a form of life, and guess what eggs and sperms are. Yep, thats right. They are CELLS.

If eggs and sperm are already alive, well, then to a biologist life exists BEFORE conception.

Also, if those egg and sperm cells are made by you, and you were at one time conceived from egg and sperm cells arising from a couple who were conceived from egg and sperm cells and so on, so long as youre not at the end of an extinct lineage, life really is CONTINUOUS until you get back to the very first cell that formed on Earth.

Therefore, life doesnt just begin at conception. Its more like life BEGAN with the first cell 3.8 billion years ago.

Bodman really, laughably, misses the point. When we say life begins at conception, we mean (obviously, I thought) that the life of an individual human being begins at conception.

Biological life in general is continuous, as she notes; even the sperm and egg are living.

But the sperm and egg are mere parts of larger organisms, not human beings themselves. When they unite a new single-celled organism (the zygote) is formed a member of our species at the earliest stage of development who (given an adequate environment and nutrition) will actively develop himself or herself toward maturity.

The textbook Human Embryology & Teratology explains: Although life [defined broadly] is a continuous process, fertilization is a critical landmark because, under ordinary circumstances, a new, genetically distinct human organism is thereby formed.

In short, Bodman apparently has yet to learn how biologists distinguish organisms (e.g., you, me, an embryo) from biological entities that are not organisms (e.g., sperm, egg, or a strand of my hair).

That a distinct, living and whole (though immature) human organism comes into existence at conception is a matter of biological fact. Embryology textbooks and leading experts overwhelmingly confirm this:

The Developing Human: Clinically Oriented Embryology: Human development begins at fertilization when a male gamete or sperm (spermatozoon) unites with a female gamete or oocyte (ovum) to form a single cella zygote. This highly specialized, totipotent cell marked the beginning of each of us as a unique individual.

Langmans Embryology: The development of a human begins with fertilization, a process by which the spermatozoon from the male and the oocyte from the female unite to give rise to a new organism, the zygote.

Before We Are Born: Essentials of Embryology and Birth Defects: Human development begins when an oocyte (ovum) from a female is fertilized by a sperm (spermatozoon) from a male. This cell [the zygote], formed by the union of an oocyte and a sperm, is the beginning of a new human being.

Dr. Jerome Lejeune, discoverer of Down syndrome chromosome: To accept the fact that after fertilization has taken place a new human has come into being is no longer a matter of taste or opinion. The human nature of the human being from conception to old age is not a metaphysical contention; it is plain experimental evidence.

Dr. Micheline Matthews-Roth, Harvard University Medical School: It is scientifically correct to say that an individual human life begins at conception, when egg and sperm join to form the zygote, and this developing human always is a member of our species in all stages of its life.

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Sorry pro-abortionists there is no debate about when life begins - National Right to Life News

Grey’s Anatomy Recap: The First Time – Vulture

Marika Dominczyk as Eliza, Jessica Capshaw as Arizona. Photo: Mitch Haaseth/ABC

It Only Gets Much Worse Season 13 Episode 13

Editor's Rating 3 stars

Well, that escalated quickly. April Kepner is now the interim chief of general surgery and the attendings are not enthused.

The ones we get to see, at least. Meredith and Alex are completely sidelined for this surgery-heavy episode, which seems like a misstep for Greys Anatomy. Especially since Aprils predicament has so much to do with Mer. Are Mer and Alex at home eating waffles in bed? One can only hope.

Meanwhile, April is doing her best to assert her new authority. Shes pretty pumped about her promotion, and she should be. I mean, sure, the day before accepting the job she did seem pretty gung-ho on the Stop Minnick front, but a girls gotta do what a girls gotta do. In previous recaps, weve discussed how polarizing April Kepner is. Im Team April. Shes unabashedly herself a Goody Two-shoes who strives to be taken seriously. I get that. Also, she bagged Doctor Hotface (and also Smart Person, obviously). Give the girl props. I get that she can be grating, but she adds a nice mix to the goings-ons at Grey Sloan.

Anyway, Aprils first task as chief of general surgery is to help Eliza Minnick roll out the next phase of her teaching plan: two randomly chosen residents will become lead surgeon, and see their cases through while an attending assists. Minnick is overseeing Stephanies surgery, and April has to find someone to assist Ben Warren. She lands on Webber. The ask goes about as well as youd expect, if you were expecting April to have to beg and Webber to agree only after throwing some savage snark. Its the sure thing, Chief heard round the world.

Aprils taking flak from all sides. Her esophageal-cancer patient is constantly comparing her to her former doctor, Meredith Grey. She only refers to April as Not Doctor Grey! Her friends are either ignoring her or giving her crap. She has to eat lunch alone at the Grey Sloan High cafeteria. When Jackson finally confronts her about the situation, he insults her by implying that she only got the job because his mother manipulated the situation. Shes left screaming in the middle of the day-care room that she earned the position. That she is a good surgeon. Yeah, its a rough day for our farm girl.

The adversity fuels April. Once it dawns on her that she is, in fact, the boss lady, she starts acting like it. She starts doing her job. She kicks Maggie out of the esophageal-cancer case because Maggie made it clear she thinks April is a traitor. After April kicks that cancers ass, she doesnt gloat she simply appreciates that her patient finally asks for her name. A boss lady should always be classy.

If April wasnt already feeling better about being the woman in charge, a nice chat with Catherine Avery who, for the record, did not tell Bailey to give the job to April does the trick. The other doctors, Jackson included, are angry that April gave up the cause. That shes an opportunist who shouldve known to say no. And yes, it could look like that from the outside. Catherine, however, reminds April that people like Jackson are not like the two of them. (April getting giddy over being compared to Catherine is precious.) They had to work for what they have. Jackson doesnt know what its like to live without a safety net. If he did, hed know April had no choice but to take the job. It is a lovely little conversation that leads to a lovely little glass of wine because neither of the girls really wants to return home to their angry dudes. Remember when Catherine first showed up and made April pump a penis implant? Man, times have changed.

Since being a part of Minnicks phase two is what gets April an overabundance of side-eye from her friends, lets talk about how that goes down. Neither chosen resident has the smoothest of times.

Bailey wants to observe Bens surgery with Webber, even after her husband has told her to back off. The surgery goes swimmingly, but with no help from Webber or Bailey, who devolve into a heated argument. Bailey wants to know why Webber is helping this hospital fall further behind. Webber wonders when Bailey, whose first solo surgery was also with him, forgot that he knows how to teach. Things have gotten so bad between these two because of how much they care for one another. (Webber later tells Catherine that Bailey was his start to finish. Aww.) Still, Ben is right to call them out for spending time arguing about teaching instead of actually, you know, teaching. This was his first solo surgery and it was ruined. Hell never get his first time back.

Neither will Stephanie, whose first time is infinitely worse. She is obviously pumped to be getting a chance to run a case on her own. She is Eliza Minnicks No. 1 and, well, only fan. The two end up with a 9-year-old patient named Matty. He is very cute and his parents are very cute while talking about a family cruise and you just know this is going to end badly.

Matty has gallstones and an inflamed bladder, so he needs surgery. No family cruise for cute Matty today. Arizona is livid that Minnick would allow a resident to perform her first lead surgery on a child. YOU DO NOT EXPERIMENT ON TINY HUMANS. But Eliza has complete faith in Stephanie and in her teaching methods. Arizona 100 percent disagrees. Which is how Stephanie, Eliza, and Arizona end up in the O.R. with blood gushing out of Mattys abdomen. Very quickly, Matty dies.

Stephanie is beside herself and asks Minnick what she did wrong. Did I kill that boy? Oof, you guys. It is rough stuff. Even worse, Minnick cant answer her. She cant even speak. The teaching guru runs off in tears.

With nowhere else to turn, Stephanie seeks guidance from her greatest teacher: the always-dependable Richard Webber. Still shaking, she walks him through the surgery, determined to find out where she went wrong. Richard stays calm and tells her that doctors arent able to fix what they cant see and how was she supposed to know there was a bleed? Arizona and Minnick didnt catch it either. You lost. Its not your fault, but you lost. Every good surgeon does, he says as he brings her in for a patented Richard Webber healing hug. Its the most moving scene of the episode, and it proves, once and for all, that Webber is right. He has always been an excellent teacher.

Elsewhere in the hospital, Arizona tracks down Minnick to tell her that she is pretty much the opposite of Webber. A good attending has to be able to teach her resident more than just the how-tos of surgery; she has to teach her resident how to handle the consequences of surgery. Minnick cries and cries and admits that she cant teach Stephanie what to do in this situation because shes never been in it. Shes never lost a child in surgery.

I guess this is an attempt to make Minnick a little more sympathetic? Or at least shade in some character details. Okay, sure. It does make Minnick seem a little more human, but I am still not onboard with the increasingly imminent Minnick-Arizona love affair. Even if Arizona does pull out Minnicks horn wires. Thanks, but no thanks, Greys.

Okay, it doesnt turn out so great, but Stephanies excitement to take a surgery from start to finish is just one more example of why shes the best. Mamas gotta go do surgery. Yes, lady. YES.

Ben Warren gets called Mrs. Bailey and refers to himself as Mirandas First Lady. How are either of those things insults?

April shrieking about being the nicest is peak April.

Im unsure what this says about me, but I could totally watch a good 30 minutes of the attendings snacking on baby carrots and talking about Switzerland. They have good banter, what can I say?

Bailey used to have Hansons MMMBop on her surgery playlist. Ill just leave that right there for you all.

Did anyone else cheer when Jo called April a badass for telling off Maggie and April told her to shut up? Even April Kepner cant handle Jo Wilson.

Who among us can watch Richard Webber take a weeping resident into his strong, caring arms and walk away dry-eyed? We are but mere mortals, after all.

Larry Wilmore and Milo Yiannopoulos Spar on Real Time: You Can Go F*ck Yourself

Stephen Colbert: Please, Random Celebrities, Keep Digging Up Dirt on Donald Trump

Hes one of 10 commission members to resign.

Nice mirror smash.

Things are getting interesting.

Their custody battle is no closer to resolution.

Sing it, Stevie.

When presented with a choice, pick the dull knife.

Not now, 2017.

Way to feed right into those vigilante abandonment issues, Matt.

To learn right out of film school that you can take a scene you think is good and then continue to rewrite it is priceless.

Its cool, because Trump is a random celeb, too.

Castle Rock is a mystery built on many mysteries.

In which Melanie Lynskey drinks from a flask.

A head banging anthem for head smacking times.

The Lion King remake just got its reluctant king (and a familiar father).

The Colbert Trump Bump continues.

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Grey's Anatomy Recap: The First Time - Vulture

Unwrapping the Physiology of a Tour de France Champion – Newswise (press release)

Newswise Given the current spotlight on sport concerning the use and abuse of Performance Enhancing Drugs (PEDs), there is a public interest in athletes providing greater transparency with regard to what makes them elite. In this study, the investigators conducted a thorough examination into the physiological characteristics of a two-time Tour de France champion cyclist. Several interesting results were found including: 1) some of the highest aerobic capacity values in a cyclist on record; 2) high cycling efficiency; and 3) a higher than anticipated body fat percentage. Collectively, the data demonstrated what may be the required physiological characteristics to be a Tour de France champion. While the data can neither confirm nor deny the use of PEDs, it is perhaps a step in the right direction to publicly demonstrate the type of physiology required to be one of the greatest endurance athletes in the world. For more information, view the abstract or contact the investigator.

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Unwrapping the Physiology of a Tour de France Champion - Newswise (press release)

News – Investor’s Business Daily

Shire missed in two key areas, but overall Q4 results and guidance met or beat views. (Kris Tripplaar/Sipa USA/Newscom)

Despite drugmaker Shire's (SHPG) lagging sales in oncology and neuroscience, the company topped Wall Street's Q4 views and delivered in-line 2017 guidance prompting the stock to pop early Thursday to a six-week high.

In the stock market today, though, Shire stock rose 2.6% to 178.70, after earlier rising as much as 4.8% to touch a high achieved Jan. 5. Shares got support this week at their 50-day moving average but remain below their 200-day average.

For Q4, Shire reported $3.8 billion in sales, up 124% and topping the consensus for $3.7 billion. The company also posted $3.37 in earnings pershare minus items, beating analysts' model for $3.27, RBC analyst Douglas Miehm wrote in a research report.

But neuroscience sales of $589 million missed views for $641 million, and $55 million in oncology sales lagged by $8 million, Miehm said. He has an outperform rating on Shire stock.

Shire guided to $14.5 billion to $14.8 billion in total 2017 product sales and $600 million to $700 million in royalties and other revenues. That indicates $15.25 billion in total 2017 revenue, which would be in line with broader views for $15.24 billion.

For 2017, the company also sees $14.60-$15.20EPS minus items. Analysts had seen $15-$15.40, Miehm wrote.

IBD'S TAKE: Fourth-quarter earnings season is rapidly coming to an end. Head to IBD's Biotech & Pharma Stock News page for a rundown of winning and losing stocks this quarter.

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Teva Maintains 2017 Guidance Despite Copaxone Patent Losses; Q4 Tops

Shire and Allergan continue to battle for market share with their treatments for dry eye. (Kris Tripplaar/Sipa USA/Newscom)

12/02/2016 Thanksgiving week saw Shire's Xiidra lose some ground to rival Allergan in the dry-eye market, RBC says.

12/02/2016 Thanksgiving week saw Shire's Xiidra lose some ground to rival...

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News - Investor's Business Daily

New research facility opens at Greenwood Genetics Center – Greenville News

Self Regional Hall(Photo: Craig Mahaffey/Clemson University)

A new facility that will house the Clemson University Center for Human Genetics has opened at the Greenwood Genetic Center.

The 17,000-square-foot structure, named Self Regional Hall, will allowClemsons growing genetics program to collaborate closely withresearchers at the center and to focus on early diagnostic tools for autism, cognitive developmental disorders, cancer and rare metabolic disorders.

Opening Self Regional Hall means that we will be able to do even more to help children with genetic disordersand their families, and to educate graduate students who will go out into the world and make their own impact, said Clemson University President James P. Clements, who has a child with special needs.

As you all know," he added, "an early diagnosis can make a huge difference for a child and their family because the earlier you can figure out what a child needs the earlier you can intervene and begin treatment.

The building will house eight laboratories and several classrooms, conference rooms and offices for graduate students and faculty, officials said.

GCC director Dr. Steve Skinner said the facilityis the nextstep in a collaboration of more than 20 years.

"We look forward to our joint efforts with both Clemson and Self Regional Healthcare to advance the research and discoveries that will increase our understanding and treatment of human genetic disorders, he said.

For more information about GGC, go towww.ggc.org.

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New research facility opens at Greenwood Genetics Center - Greenville News

Defying Mendelian Genetics and Embryo Engineering – PLoS Blogs (blog)

Mendels laws, like any laws in science, are wonderful because they make predictions possible. A woman and man both carry a recessive mutation in the same gene, and each of their children has a 25% chance of inheriting both mutations and the associated health condition. Bio 101.

In contrast to our bizarre new world of alternate facts, multiple interpretations, and both are true scenarios, science is both logical and rational. If an observation seems to counter dogma, then we investigate and get to the truth. Thats what happened for Millie and Hannah, whose stories illustrate two ways that genetic disease can seem to veer from the predictions of Mendels first law: that genes segregate, one copy from each parent into sperm and ova, and reunite at fertilization. (Ill get to embryo engineering at the end.)

Millies situation is increasingly common exome or genome sequencing of a child-parent trio reveals a new (de novo), dominant mutation in the child, causing a disease that is genetic but not inherited.

Hannahs situation is much rarer: inheriting a double dose of a mutation from one parent and no copies of the gene from the other.

MILLIE AND BAINBRIDGE-ROPERS SYNDROME

Millie McWilliams was born on September 2, 2005. At first she seemed healthy, lifting her head and rolling over when most babies do. But around 6 months, her head became shaky, like an infants. Then she stopped saying dada, recalled her mother Angela.

By Millies first birthday, her head shaking had become a strange, constant swaying. She couldnt crawl nor sit, had bouts of irritability and vomiting, and bit her hands and fingers.

In genetic diseases, odd habits and certain facial features can be clues, but none of the many tests, scans, and biopsies that Millie underwent lead to a diagnosis. Nor were her parents carriers of any known conditions that might explain her symptoms. Still, it was possible that Millie had an atypical presentation of a recessive condition so rare that it isnt included in test panels.

By age 6 Millie couldnt speak, was intellectually disabled, and was confined to a wheelchair, able to crawl only a few feet. Today she requires intensive home-based therapies. But Millie can communicate. She likes to look at what she wants, with an intense stare, said Angela. She loves country music and Beyonc, and every once in awhile something funny will happen and shell break into a big smile.

Millies pediatrician, Dr. Sarah Soden, suggested that trio genome sequencing, just beginning to be done at Childrens Mercy Kansas City(where the child already received care) as part of a long-term project, might help to assemble the clinical puzzle pieces to explain the worsening symptoms. So the little girl and her parents, Angela and Earl, had their genomes sequenced in December 2011. Analyzing the data took months, but Dr. Sodens team finally found a candidate mutation in the child but not her parents. However the gene, ASXL3, hadnt been linked to a childhood disease. Yet.

Its typically a matter of time for gene annotation to catch up to sequencing efforts and clinical clues. In February of 2013, a report in Genome Medicinedescribed four children with mutations in ASXL3 who had symptoms like Millies. Even her facial structures arched eyebrows, flared nostrils, and a high forehead matched those of the other children, as well as the hand-biting. They all haveBainbridge-Ropers syndrome.

One copy of Millies ASXL3 gene is missing two DNA bases, creating an inappropriate stop codon and shortening the encoded proteins. From this new glitch somehow arose the strange symptoms. Because neither Earl nor Angela has the mutation, it must have originated in either a sperm or an egg that went on to become Millie.

Since the paper about Bainbridge-Ropers syndrome was published three years ago, a few dozen individuals have been diagnosed and families have formed a support group and a Facebookpage. Thats huge. Even if a disease has no treatment, as is the case for Bainbridge-Ropers, families find comfort in reaching the end of the diagnostic odyssey and locating others. Said Angela, It was a relief to finally put a name on it and figure out what was actually going on with her, and then to understand that other families have this too. Ive been able to read about her diagnosis and what other kids are going through.

HANNAH AND GAN

Hannah Sames will be celebrating her 13th birthday next month, and is showing what may be early signs of strength in her muscles after receiving gene therapyinto her spinal cord last summer to treat giant axonal neuropathy (GAN).

When I first met Hannahs mom Lori in 2010, she told me that Hannah had inherited the exact same deletion mutation in the gigaxonin gene from her and her husband Matt. At that time, only a few dozen children were known to have the condition, and that number hasnt risen much. Because of the diseases rarity, I politely asked ifLori and Matt could be cousins but not know it. Shared ancestry seemed a more likely explanation for two identicalextremely rare gene variants occurring in the same child than the parents having the same length deletion just by chance. But no, Matt and Lori arent related.

The answer came just a few months ago: Hannah inherited both of her gigaxonin deletion mutations from Lori, and none from Matt. This is a very rare phenomenon called uniparental disomy (UPD), meaning two bodies from one parent. Like Millie, UPD seemingly defies Mendels law of segregation, with a pair of chromosomes (or their parts) coming solely from one parent, rather than one from each parent.

UPD happens during meiosis, the form of cell division that sculpts egg and sperm. And it requires two exceedingly rare events.

First, something goes wrong during the separation of one chromosome in which the DNA has replicated to form two chromatids, like two squiggly lines of DNA linked at the middle. Instead of those chromatids separating into different eggs, a pair went into the same egg, providing two copies of the chromosome 16 that bears the mutation, instead of the normal one. For a child with GAN to have resulted from Loris meiotic glitch, her double-dose egg must have met with a sperm cell that just happened to be missing chromosome 16 thats the second rare event. Or, more likely, the one-celled Hannah indeed had a chromosome 16 from her dad yet had two from her mom, an anomaly in chromosome assortment called nondisjunction. In fact an extra chromosome 16 is the most common trisomy(3 instead of 2 chromosomes) associated with miscarriage. But then Matts chromosome was lost, leaving two from Lori.

Neither Millies Bainbridge-Ropers syndrome nor Hannahs GAN actually counters Mendels law. Although Millie didnt inherit her mutation, if she were able to have children, she would pass it on with a probability of 1 in 2 to each child, just like the law predicts for dominant inheritance. Likewise, a child of Hannah would inherit one copy of the mutation that causes GAN when present in a double dose, just like the law predicts for recessive inheritance.

FORGET EDITING THE GERMLINE GENOME AND HELP SICK KIDS

As I was writing this post, the National Academy of Sciencesreleased its long-awaited tome on whats being called, among other things, embryonic engineering. Rather than banning editing of the human germline forever, the report foresees certain situations in which gene or genome editing, using CRISPR-Cas9 or some other variation on the theme, might be deployed to prevent disease.

WhileI think its great that the rare scenarios in which genome editing might be useful are finally being spelled out, instead of flaming fears of genetic enhancement spawning designer babies, my thinking aboutMillie and Hannah made me wonder why we would ever need to edit a genome to prevent disease in the first place. To quote the eminent mathematician from Jurassic Park, Ian Malcolm, Yeah, yeah, but your scientists were so preoccupied with whether or not they could that they didnt stop to think if they should.

Preventing illness in a future child of course isnt the same as designing theme park dinosaurs, but like Jurassic Parks technology, I cant imagine why genome editing at very early developmental stages is necessary.Even for an exceedingly rare family situation in which passing on an inherited disease is unavoidable, according to Mendels laws, there are alternatives, although they do not yield a biological child: replace, select, or adopt:

Instead of replacing errant genes early in prenatal development, or even before, I think we should focus instead on helping the Millies and Hannahs who are no longer fertilized ova or early embryos, but are kids. Thats already starting for Hannah, thanks to the gene therapy technology that has been gestating since 1990. Millies turn hasnt come yet.

So yes, lets set rules for editing the human germline but lets also consider whether this type of intervention will ever even be necessary in our overcrowded world.

See original here:
Defying Mendelian Genetics and Embryo Engineering - PLoS Blogs (blog)