Category Archives: Human Genetics

Artificial intelligence is already being put to use in the NHS, with Googles AI firm DeepMind providing technology to help monitor patients. Now I have discovered that DeepMind has met with Genomic England a company set up by the Department of Health to deliver the 100,000 Genomes Project to discuss getting involved.

If this does indeed happen, it could help bring down costs and speed up genetic sequencing potentially helping the science to flourish. But what are the risks of letting a private company have access to sensitive genetic data?

Genomic sequencing has huge potential it could hold the key to improving our understanding of a range of diseases, including cancer, and eventually help find treatments for them. The 100,000 Genomes Project was set up by the government to sequence genomes of 100,000 people. And it wont stop there. A new report from the UKs chief medical officer, Sally Davies, is calling for an expansion of the project.

However, a statement by the Department of Health in response to a freedom of information (FoI) request I made in February reveals this decision has already been made. The department said in this response that the project will be integrated into a single national genomic database. The purpose of this will be to support care and research, and the acceleration of industrial usage. Though it will inevitably exceed the original 100,000 genomes, we do not anticipate that there will be a set target for how many genomes it should contain, the statement reads.

The costs of sequencing the genome on a national scale are prohibitive. The first human genome was sequenced at a cost of US$3bn. However, almost two decades later, Illumina, who are responsible for the sequencing side of the 100,000 Genomes Project, produced the first $1,000 genome a staggering reduction in cost. Applying machine learning to genomics that is, general artificial intelligence has the potential to significantly reduce the costs further. By building a neural network, these algorithms can interpret huge amounts of genetic, health, and environmental data to predict a persons health status, such as their level of risk of heart attack.

DeepMind is already working with the NHS. As part of a partnership with several NHS trusts, the company has built various platforms, an app and a machine learning system to monitor patients in various ways, alerting clinical teams when they are at risk.

But its been controversial. The company announced the first of these collaborations in February 2016, saying it was building an app to help hospital staff monitor patients with kidney disease. However, it later emerged that the agreement went far beyond this, giving DeepMind access to vast amounts of patient data including, in one instance, 1.6m patient records. The Information Commissioners Office ruled recently that the way patient data was shared by the Royal Free NHS Foundation Trust violated UK privacy law.

Googles ambitions to digitise healthcare continue. I received a response to an FoI request in May which reveals that Google and Genomics England have met to discuss using Googles DeepMind among other subjects to analyse genomic data.

Davies insists that data could be anonymised. The Department of Health always promise that medical data used in such initiatives will be anonymised, yet one of the reasons that Care.data (an initiative to store all patient data on a single database) was abandoned is that this was shown to be untrue. I have also shown that the department has misinformed the public about the level of access granted to commercial actors in the 100,000 Genome Project. In particular it said the data would be pseudonymised rather than anonymised, meaning there would still be information available such as age or geographical location.

What would genomic information add to Googles already far-reaching database of individual information? A hint lies in its self-confessed aspiration to organise our lives for us. The algorithms will get better, and we will get better at personalisation, according to Eric Schmidt, executive chairman of Googles parent company Alphabet. This will enable Google users to ask the question, what shall I do tomorrow?, or what job shall I take?.

With personalisation as their ultimate goal, Google intend to use the machine learning algorithms which track our digital footprint and target users with personalised advertising based on their preferences. They also want to analyse health and genomic data to make predictions such as when a person might develop bipolar disorder or tell us what we should do with our lives.

Let us not forget that data, genomic or otherwise, is the oil of the digital era. What is stopping genomic information from being captured, bought and sold? We cannot assume that people will make life choices based upon their genetic profile without undue pressure commercial or governmental.

As for how genomic data might be used and what decisions will be taken about us, the mass surveillance by government agencies of their own citizens is a chilling reminder of the way information technology can be used. There is something unpalatable about everything being connected and everything being known.

When it comes to genetics, the implications are particularly frightening. For example, there is evidence of a link between genes and criminality. We know that 40% of sexual offending risk is down to genetic factors. A single national knowledge base as the one the UK government is aiming to create might therefore be used for broad genetic profiling. Although early intervention programmes that buy into genetically deterministic notions of crime genes are reductive, serious debate about policies involving genetic information will no doubt happen soon.

We can already see the beginnings of this in the United States. The bill Preserving Employee Wellness Programs Act which has received strong backing from Republicans and business groups would allow companies to require employees to undergo genetic testing. The results would be seen by employers, and should employees refuse to participate they would face significantly higher insurance costs.

Too much personalisation is likely to be intrusive. The challenge, then, will be to harness the potential of genomics while introducing measures to keep government and big business in check. The UK House of Commons Science and Technology Committees inquiry on genomics and genome editing was cut short (due to the recent snap general election). Its recommendations for further lines of enquiry include creating a quasi-independent body, which could be more attuned to broader, social and ethical concerns. This might introduce more balance at a pivotal time for the future of human genetic technologies.

View original post here:
Google may get access to genomic patient data here's why we should be concerned - The Conversation UK

Science has always been one of the core components of Orphan Black, but so has power who has it, who loses it, and what those people do to wield or gain it. Now, with P.T. Westmoreland in the picture and Rachel by his side, were seeing more of those inner workings than ever before. Were also getting revelations about those early attempts to push the boundaries of human evolution yep, that thing in the woods was an experiment gone awry and the splintering effect it had on the top of the Neolution pyramid.

So while Ss plans uncovered a wealth of information (and a familiar face or two), Kira also did some experimenting of her own in hopes of learning more about her special abilities. In honor of these revelations, this week well run the clones through our trusted Orphan Black Clone Status Hyper-Sequence Generator Calcutron and export them by whos discovered the most this week. Please enjoy the data set below. (#Science!)

Sarah Much to Sarahs displeasure, Kira wont tell her much about her meetings with Rachel but Sarah does uncover a nasty cut on Kiras arm, which she thinks Rachel inflicted until her daughter admits she did it herself to see how fast she could heal. Unable to provide the answers she seeks and with three days until she has to go back to Dyad, S asks Felix to take Kira while she takes Sarah on a recon mission she has a lead that may help them get some leverage.

Their mark is a Dr. Elizabeth Perkins, who, S tells Sarah, could have a key to P.T. Westmoreland but they need her wallet. Ss intel (the woman likes to drink and has a rough relationship with her own daughter) gives them the perfect setup: They stage a fight, and Sarah throws a drink at S and grabs Dr. Perkins wallet as Perkins makes sure S is all right and then invites her to sit down for another drink.Turns out, Dr. Perkins is a psychologist studying, in her words, how PTSD co-occurs with major depressive disorders, and shes in town for some case studies. One person shes supposed to meet is an Alex Ripley, who is supposedly a high-level Neolution defector who may be being held against her will at a nearby mental health facility. S and Sarah are going to go in as Dr. Perkins and her assistant to check it out. (Sarah, meanwhile, realizes theres no way Ss usual methods would have known about the Neo. She wont say where her intel came from, but Im pretty sure we already know remember when Delphine stopped by her door?)

Once the bespectacled Mrs. S and Sarah-posing-as-a-bumbling-assistant con their way into visitors passes, they sneak into an unauthorized ward and find Alex Ripley, who is actually (drumroll please) season 3 baddie Virginia Coady. Oh hey, blast from the Orphan Black past!Shes initially very drugged up and unable to speak, but Sarah still calls her a genocidal bitch by way of greeting and gives her a slap across the face courtesy of Helena once she comes to. Virginias surprised when they ask about P.T., but after S hints they may be able to help her escape if she talks, she says an old friend had her locked away someone who shared her goal of controlling human genetics but didnt always get it right.

RELATED VIDEO: Orphan Black cast teases season 5

That old friend, it turns out, is Susan Duncan, and here we get a wealth of backstory on their early attempts at Neolution-inspired human experimentation. Susan and P.T. recruited Virginia to their cause when she was young, and before they found Kendall Malone or started human cloning projects, someone else was their first human subject. He was P.T. Westmorelands original obsession, but too many mistakes were made on this child who possessed a unique genome. Their science wasnt as refined then, and he began growing tumors and suffering brain damage Susan wanted to stop their experiments, but Virginia disagreed, and, in her words, they created a monster. Susan never forgave her for it, and they split assets in the friend/science divorce: Virginia took Castor, Susan kept Leda, and P.T. kept them apart.

But before she can tell them anything more, the doctor whom the real Elizabeth Perkins had supposedly been there to visit interrupts the intel party. Seeking a means of escape and knowing shell soon be drugged into submission again, Virginia attacks Sarah and steals her visitors pass (which contains a key card), and when the orderlies and doctor restrain her, S and Sarah use the commotion as a means to sneak away. This definitely doesnt seem like the last well see of her.

Cosima They dont explicitly say it, but its pretty obvious the thing Sarah glimpsed in the woods during her little vacation on Evil Mystery Island is the now-grown boy from Susan Duncan, Virginia Coady, and P.T. Westmorelands early days of human experiments and via Cosima, we get out first real (albeit brief) glimpse of him.

After Charlotte and Aisha hear him and spot whats presumably one of his teeth in the woods while going to look for a missing pig from the Revival menagerie, Cosima confronts Mud asking for answers. She already suspects that whatever took a bite out of Daisy the Pig has something to do with Westmoreland. Were on the Island of Doctor Moreau here, she says. Whatever weird s is happening, its coming from the big house. All Mud will say is its not his fault(probably talking about the man in the woods, but possibly Westmoreland), and she warns Cosima to stay out of the woods.

Later that night, Cosima follows Mud as she makes her way in the dark up toward Westmorelands house. Inside, P.T. is hooked up to some sort of IV treatment (is that a dialysis machine? Science people, drop some knowledge in the comments if you know!), and Cosimas snooping brings her down into the basement, where she finds not just old medical equipment but photos of painful-looking experiments/procedures and, more disconcertingly, a cell with chains and blood on the walls. When Mud finds her down there, Cosima demands to know what they did to the man in the woods, but Mud just begs her to get out and frantically sends her out a side door. Still not deterred, Cosima stays close enough to the house to see Mud bring a blanket out to the man and try to talk to him, but he only appears for long enough to growl and bare his teeth before taking her gift and running back into the shadows. (Recap continues on page 2)

Read the original:
Orphan Black recap: 'Let the Children and Childbearers Toil' - EW.com (blog)

Eric Lagatta The Columbus Dispatch @EricLagatta

In Dan Koboldt's fantasy novels, a medieval world of sorcery converges with its modern technological counterpart.

The metaphor is as apt as any for Koboldt's dual persona: He is both scientist and fantasy novelist.

The 37-year-old spends his weekdays at Nationwide Children's Hospital researching rare diseases in kids.At night and on weekends, he travels to Alissia, a mythical universe of his own making.

Its definitely a very different part of the brain than what I use at work, said Koboldt, who lives in Lewis Center with his wife, Christina, and their three young children. I like it as a creative outlet, and its a fun hobby to have thats less serious sometimes than the stuff I do at the hospital.

In his hometown of St. Louis, Koboldt grew up on a diet of J.R.R. Tolkien, Frank Herbert and other stalwarts of the genre. "Lord of the Rings" and even the original "Star Wars" films gave him an appreciation for the trilogy format.

For years, though, he suppressed his drive to write his own epic tales as he pursued another passion: human genetic research.

Although Koboldt took evening writing classes at Washington University in St. Louis while working on his master's in biology, he didn't really begin writing in earnestuntil 2009, when he firstparticipated in theinternet-based National Novel Writing Month.

"That book will never see the light of day," he said, "but it's good exercise for me."

He continued writing while working as a researcher at the Genome Institute of Washington University, eventually creating an idea for a trilogy in 2013 that he thought had enough promise to begin shopping it to agents.

By early August in 2015, he had a deal with HarperCollins, which agreed to print the "Gateways to Alissia" series under its Voyager Impulse imprint.

Koboldt's first book, "The Rogue Retrieval," was published in March 2016. The storyfollows Las Vegas magician Quinn Bradley, who is recruited by a corporation to infiltrate a medieval realm through a secret portal.

Bradley finds himself returning to Alissia in "The Island Deception," which was released in April. This time, the protagonistsees an opportunity to learn to use real magic for himself.

The stakes will be even higher in the finale, The World Awakening, as competing interests become aware of the portals existence and fight to control the alternate dimension.

"What I like about Dan's writing is that he's able to make Quinn really funny," Koboldt's agent,Paul Stevens ofDonald Maass Literary Agency, said by email."Even though he (the character) is in life-or-death situations, he keeps his sense of humor, often throwing in pop-culture references to lighten the moment."

Like any effective work of science fiction or fantasy, the books draw on the familiar to explore social issues. Themes of corporate exploitation abound, reflected in the shady CASE Global that engages in espionage and uses military drones for its own profit.

The inspiration for the series came after Koboldt read an article about people secretly filming magicians Penn and Teller's live acts in order to reverse engineer their illusions so they could steal them.

It got me thinking about technology, he said. Technology has really changed the practice of illusions and magic.

Since he moved with his familyfrom St. Louis to Columbus in the fall to work at Children's, he has discovered what he called a lively and passionate literary community in central Ohio. He has appeared at several eventsto help build an area fan base, with his next appearance scheduled Sunday at the Book Loft in German Village.

Koboldt and others working at Washington University were recruited to Children's last fall as part of the hospital's efforts to advance pediatric research. As a researcher atthe Institute for Genomic Medicine, Koboldt helps determine genetic mutations that can cause unidentifieddiseasesin children.

His role is primarily as a data analyst.

What I really enjoy is the people who work here are all fantastic, Koboldt said. Were much closer to the patients and families were trying to help.

In his office, a poster featuring the cover of"The Rogue Retrieval" hangs prominently. On his desk, a coffee mug warns all visitors:"Careful, or you'll end up in my book."

"I like to break it out at meetings because everyone around here is afraid they'll end up in the book," he said with a laugh.

It's not an idle threat, as co-worker Vince Magrini has learned.

Magrini whohas knownKoboldt for 10 years, since the two began working togetherat Washington University is quick to point out that a military contractor named "Hank the Tank" Magrini was killed in the early pages of the first book.

He vowed not to read another page until Koboldt resurrects the character.

It's not that Im really boycotting him," said Magrini, who began working at Children's at the same time as Koboldt, "but Im boycotting him.

Joking aside, Magrini praised his colleagues ability to embrace a creative side that many dont associate with scientists.

It helps really diversify somebody," he said. "It centers them; it gives them balance."

Peter White, senior director of the computational genomics group, recognized that same trait in Koboldt, too.

It doesnt fit the stereotype of having this computer science/math/genetics background and to have that creative, artistic side to able to write a novel, said White, adding that Koboldt's books are "on my list to read because I do enjoy fantasy.

Christina Koboldt, who met her husband of 11 years when both were undergraduates at the University of Missouri, was never surprised by his artistic drive.

He often carries a notepad to jot down ideas that occur to him. And,as soon as they put their children to bed, he retreats to his home office to write.

Hes got the creative juice and the imagination and the skill to do it, Christina Koboldt said. I just think its incredible that he can do that while still managing his job and his family and his marriage.

Once Gateways concludes, Koboldt envisions more fantasy adventures.

He hinted at a series set in the future that draws more on the experiences of his day job in which a company designs genetically engineered dragons for households to own.

elagatta@dispatch.com

@EricLagatta

See original here:
Children's Hospital researcher taps into creative side by writing science fiction - The Columbus Dispatch

A 21-month-old girl in North Carolina is turning heads thanks to her unusual hair.

Phoebe Brasswell, of Smithfield, was born with a rare genetic condition that makes her locks always look as if theyve just been hit with static electricity.

The condition, uncombable hair syndrome, causes her hair follicles to be kidney-shaped instead of round. It also affects the hairs protein, which gives it shape, according to Inside Edition.

As a result, Phoebes hair is fine, coarse, constantly tangled and constantly staticky, according to SWNS.com.

SWNScom

Phoebe is one of only around 100 children worldwide with the condition, according toProfessor Regina Betz, who researches UHS at the Institute for Human Genetics at the University of Bonn, Germany.

Betz told SWNS, There may be many more which have not been reported.

Some believe Albert Einstein may have had the condition. [ADD LINK]

Phoebes mom, Jamie, said no haircare products seem to work on her daughters hair, but she loves it anyway.

Every morning it is sticking straight up and throughout the day, she told SWNS.com. I try and spray stuff in it to keep it down, but within 30 minutes its spiky again.

Jamie Brasswell has nicknamed her little girl, Poppy, after a character in the movie Trolls, according to Inside Edition.

SWNS

Still, people unfamiliar with the condition arent shy about making suggestions to Phoebes mom when they are in public.

We were in the grocery store once and a lady said, She is going to hate you when she looks at her baby photos because you let her go out in public like that, Jamie told SWNS.com.People say, You should brush it better. Why dont you put it in a ponytail? But that hurts her.

Jamie has tried to minimize those comments by having Phoebe wear a headband when out in public.

SWNS

Although Phoebes hair sticks out in a crowd and pretty much everywhere else doctors expect it will become more manageable when she reaches puberty.

So You Want To Raise A Feminist?

Start here, with the latest stories and news in parenting.

See more here:
Toddler's Hair Stands Up Like Troll Doll Thanks To Rare Genetic Condition - HuffPost

June 30, 2017

A single genetic mutation can lead to completely different diseases, depending on the time and location at which the mutation occurs. This finding emerged from the PhD study conducted by Rocio Acua-Hidalgo of Radboudumc. For example, a mutation in the SETBP1 gene that occurs early in development leads to Schinzel-Giedion syndrome, but later in life it results in myeloid leukemia. "Determining the timing of mutation is crucial for its interpretation and for providing careful genetic counseling," explained Acua-Hidalgo.

Our inherited characteristics are recorded in our DNA. Children receive half of their DNA from the sperm cell of the father, and the other half from the egg cell of the mother. But during life, mutations also occur in the DNA, resulting in new genetic characteristics. These characteristics can be beneficial, neutral or pathogenic. Known as de novo mutations, these changes can take place during the formation of sperm and egg cells, resulting in a mutation in all cells throughout the body. But mutations can also occur later in development, resulting in their presence in only part of the body.

Intellectual disability and cancer

Acua-Hidalgo studied the timing of de novo mutations and their effect on health and disease. She performed the study in a group of patients with the rare Schinzel-Giedion syndrome. This developmental disorder, which is associated with intellectual disability, is the result of a mutation in the SETBP1 gene during the development of sperm or egg cells. The mutation leads to a surplus of SETBP-1 protein, which disturbs neurological development. But this protein accumulation is also seen in patients with leukemia who do not have this syndrome. In this group, the mutation occurred later in life.

Timing of mutations

Acua Hidalgo: "We see that malignant tumors result from very severe mutations in SETBP1, while children with Schinzel-Giedion syndrome have milder mutations in the same gene and occasionally develop cancer. Other xamples of syndromes that are associated with an increased risk of cancer are also known. A mutation that occurs at birth can have multiple consequences later in life. A malfunctioning gene can appear in various organs and at different times during development."

Mixed blood

Acua Hidalgo also looked at mutations in blood-forming stem cells. Because these stem cells transmit the mutation to the blood cells they form, the amount of mutated blood increases gradually with age: "Previously, we could detect mutations if these occurred in at least 4% of the blood cells. But with Next Generation Sequencing we can now identify mutations that occur in only 0.5% of the blood cells." In a study led by Alexander Hoischen, which is published in the American Journal of Human Genetics on June 29, Acua-Hidalgo estimates that approximately two out of ten people between the age of 60 and 70 have blood with a genetically mixed composition. For people older than 70, this percentage is even higher. This is twice as much as previously assumed: "This is a universal phenomenon. The idea that every cell in our body is genetically identical is simply not true."

Small risk of cancer

"We see that our somatic cells accumulate mutations during our lifespan. This is an important step in the development of diseases of aging and cancer. However, it is important to realize that the development of a disease such as leukemia from this mutation takes a long time. If you examine the blood carefully, you can find potentially precancerous cells. But there are so many steps between these precancerous stages and actual cancer that only a few people go through the entire process. Only 0.5% to 1% of people with these mutations actually develop cancer."

Population studies

Acua-Hidalgo's findings are important for genetic population studies: "With large-scale population studies, we often look for genetic deviations in the blood. But we now understand that many mutations occur in blood. This makes it difficult to interpret such genetic deviations. Does the mutation occur throughout the body, or only in mutated blood stem cells? It is important to use multiple sources for genetic research, especially with the elderly." Alexander Hoischen adds: "Our study highlights the accuracy with which we can detect somatic mutations; this is of particular interest as a very recent study by scientists from the U.S. have shown that these types of mutations may give an increased risk for coronary artery disease and myocardial infarction."

Explore further: Skin disease caused by sperm cell transmission of keratin mutation

More information: Rocio Acuna-Hidalgo et al. Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life, The American Journal of Human Genetics (2017). DOI: 10.1016/j.ajhg.2017.05.013

Journal reference: American Journal of Human Genetics

Provided by: Radboud University Nijmegen Medical Centre

Nagoya University research identified a patient with the whole-body skin disease epidermolytic ichthyosis that had been inherited as a germline mutation from her father with the milder epidermolytic nevus. Analysis of genomic ...

The earliest mutations of human life have been observed by researchers at the Wellcome Trust Sanger Institute and their collaborators. Analysing genomes from adult cells, the scientists could look back in time to reveal how ...

Scientists have identified thousands of previously ignored genetic mutations that, although rare, likely contribute to cancer growth. The findings, which could help pave the way to new treatments, are published in PLOS Computational ...

A significant percentage of lymphoma patients undergoing transplants with their own blood stem cells carry acquired genetic mutations that increase their risks of developing second hematologic cancers and dying from other ...

A University of Colorado Cancer Center study published today in the journal Nature Genetics describes a newly-discovered, heritable genetic cause of acute lymphoblastic leukemia (ALL), namely mutation of the gene ETV6. Much ...

It is almost inevitable that we will develop genetic mutations associated with leukaemia as we age, according to research published today in Cell Reports. Based on a study of 4219 people without any evidence of blood cancer, ...

Following up on findings from a an earlier genome-wide association study (GWAS) of type 2 diabetes (T2D) in Latinos, researchers from the Broad Institute of MIT and Harvard and Massachusetts General Hospital (MGH) traced ...

A form of genetic variation, called differential RNA splicing, may have a role in tumor aggressiveness and drug resistance in African American men with prostate cancer. Researchers at the George Washington University (GW) ...

While mutations in protein-coding genes have held the limelight in cancer genomics, those in the noncoding genome (home to the regulatory elements that control gene activity) may also have powerful roles in driving tumor ...

Although the basic outlines of human hearing have been known for years - sensory cells in the inner ear turn sound waves into the electrical signals that the brain understands as sound - the molecular details have remained ...

A molecular test can pinpoint which patients will have a very low risk of death from breast cancer even 20 years after diagnosis and tumor removal, according to a new clinical study led by UC San Francisco in collaboration ...

Scientists have had limited success at identifying specific inherited genes associated with prostate cancer, despite the fact that it is one of the most common non-skin cancers among men. Researchers at University of Utah ...

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

See original here:
Timing of mutation determines the outcome - Medical Xpress

A one-year-old girl has permanent bedhead thanks to a genetic condition that makes her frizzy white locks impossible to brush.

Phoebe Braswell, from Smithfield, North Carolina, is one of an estimated 100 children worldwide with a documented case of Uncombable Hair Syndrome.

The condition thought to have been the cause of Albert Einsteins wild locks impairs the protein that gives hair its shape and strength. The hair follicles are also kidney-shaped instead of round.

As a result, Phoebes hair is fine, coarse, bright white, tangled and constantly static.

Luckily for Phoebes mom Jamie Braswell, 27, Phoebes favorite movie is Trolls and her favorite character has hair just like hers.

You never think that your child is going to have a rare disorder, but I absolutely love Phoebes hair. Its just Phoebe, Jamie told SWNS.

She loves the Trolls and Poppy is her favorite, with the pink hair. When Phoebe turns two in three months shes going to have a Trolls-themed party, the mom of two said, adding shes nicknamed her youngest daughter Poppy.

Unfortunately to others who dont understand the disorder, Phoebes hair simply looks messy.

We were in the grocery store once and a lady said, She is going to hate you when she looks at her baby photos because you let her go out in public like that, Jamie recalled.

But no matter how many times Jaime brushes Phoebes hair, it stays frizzy. Hair product doesnt help either.

Every morning it is sticking straight up and throughout the day I try and spray stuff in it to keep it down, but within 30 minutes its spiky again, said Jamie.

Thats why Phoebe always has a headband or hair tie in to keep the fly-aways out of her face.

If she didnt have that, people would think I was neglecting her, lamented Jamie.

Jamie first noticed something was different about Phoebe when strands of straw-like hair started to sprout from her scalp when she was 3 months old.

She took Phoebe to a doctor who said hed never seen any child with hair like hers before. After spotting an article on Facebook about Uncombable Hair Syndrome, Jamie phoned the doctor and got a diagnosis.

The syndrome is caused by a mutation to one of three genes PADI3, TGM3 and TCHH Phoebe will have genetic testing in August to confirm she has the disorder.

In total there are 100 cases reported to date in the world but there may be many more which have not been reported, Professor Regina Betz from the Institute for Human Genetics at the University of Bonn, Germany, said.

There is no cure for the condition, though it is reported to improve with age. Jamie thinks her daughters hair is unique, but she fears Phoebe might be bullied when she grows old enough to go to school.

I do worry about her going to school because kids can be so cruel and Phoebe is the most tender-hearted little girl I have ever known, Jamie said.

Its hard for me to anticipate that people might make nasty comments, but I am going to teach her that we are all different in every way and it doesnt matter, she added.

SWNS

Waiting for your baggage can often be a boring task,...

Here is the original post:
Girl has rare genetic disorder that makes her hair impossible to brush - New York Post

While still early, a new study reports that the disease process and motor symptoms of Huntingtons disease were reversed using CRISPR/Cas9 gene editing methods in mouse models.

The new findings spark hope for future treatments in humans, though much more work to test long-term effects and safety are needed.

Huntingtons is a progressive inherited disease that occurs when a mutant copy of the huntingtin (HTT) gene is inherited from one parent. This leads the production of a toxic protein (mutant huntingtin or mHTT) that that causes brain cells to die and triggers a degenerative process. As time goes on people experience symptoms such as uncontrolled movements, slurred speech, cognitive decline and mood swings.

Researchers led by Su Yang, Ph.D. of Emory University and Renbao Chang, Ph.D., of the Institute of Genetics and Developmental Biology at the Chinese Academy of Sciences, showed in previous work that stopping production of healthy or mutated HTT protein doesnt cause neurological problems or hurt cells in mice older than four months, so they hypothesized that shutting off both copies of the gene could be safe and potentially reverse early signs of the disease.

In the mouse model used, the animals had one human mutant huntingtin gene in place of one of the mouse huntingtin genes and motor problems as well as aggregated mutant huntingtin could be observed by the age of 9 months.

For the study, the team used a gene therapy method based on AAV (adeno-associated virus) to deliver CRISPR/Cas9-guided enzymes into brain cells. They injected millions of viral vectors into the striatum region of the mouse brains, which is the area that controls motor skills. Neurons received either a short guide RNA sequence to mark for the removal of the HTT genes repeats or a Cas9 enzyme to snip out the repeats, effectively knocking out both healthy and abnormal copies of the HTT gene, and stopping the production of HTT protein.

Three weeks later, the team observed a dramatic decrease in aggregated mutant huntingtin in the striatum. The findings indicate that brain cells have the ability to heal themselves if the genetic source of the toxic proteins is removed, the scientists said.

CRISPR/Cas9 injections were repeated in a dozen 9-month old mice and similar protein-clearing results were observed.

Mice that received the CRISPR/Cas9 injections significantly improved on tests of balance, muscle coordination, and grip strength compared to control Huntingtons mice. However they did not improve to the level of healthy control mice.

Interestingly, how well motor skills improved related to the level of toxic protein that was cleared from the striatum.

One issue with CRISPR/Cas9 that has been reported is unintended mutations resulting from off-target editing. However, the NIH-funded team reported that the gene editing occurred primarily around their target sequences and there was not significant genomic edits in other potential off-target genes.

While this early study is promising, the long-term effects and safety of injecting AAV in the brain to express CRISPR/Cas9 still needs to be thoroughly tested before translating this method to patients, senior author Xiao-Jiang Li, M.D., Ph.D., distinguished professor of human genetics at Emory, said.

The findings were published in The Journal of Clinical Investigation.

Read the original post:
Gene Editing Reverses Huntington's in Mouse Study - Bioscience Technology

Photo Credit: Hebrew University

A Stem cell research milestone was reached last year, when Ido Sagi, working as a PhD student at the Hebrew University of JerusalemsAzrieli Center for Stem Cells and Genetic Research, led research that yielded the first successful isolation and maintenance of haploid embryonic stem cells in humans.

Unlike in mice, these haploid stem cells were able to differentiate into many other cell types, such as brain, heart and pancreas, while retaining a single set of chromosomes.

Stem cell research holds huge potential for medicine and human health. In particular, human embryonic stem cells (ESCs), with their ability to turn into any cell in the human body, are essential to the future prevention and treatment of disease.

Most of the cells in our body are diploid, which means they carry two sets of chromosomes one from each parent. Until now, scientists have only succeeded in creating haploid embryonic stem cells which contain a single set of chromosomes in non-human mammals such as mice, rats and monkeys. However, scientists have long sought to isolate and replicate these haploid ESCs in humans, which would allow them to work with one set of human chromosomes as opposed to a mixture from both parents.

Together with Prof. Nissim Benvenisty, Director of the Azrieli Center, Sagi showed that this new human stem cell type will play an important role in human genetic and medical research. It will aid our understanding of human development for example, why we reproduce sexually instead of from a single parent. It will make genetic screening easier and more precise, by allowing the examination of single sets of chromosomes. And it is already enabling the study of resistance to chemotherapy drugs, with implications for cancer therapy.

Based on this research,Yissum, the Technology Transfer arm of the Hebrew University, launched the company New Stem, which is developing adiagnostic kit for predicting resistance to chemotherapy treatments. By amassing a broad library of human pluripotent stem cells with different mutations and genetic makeups, NewStem plans to develop diagnostic kits for personalized medication and future therapeutic and reproductive products.

In recognition of his work, Ido Sagi was awarded the Kaye Innovation Award for 2017.

The Kaye Innovation Awards at the Hebrew University of Jerusalem have been awarded annually since 1994. Isaac Kaye of England, a prominent industrialist in the pharmaceutical industry, established the awards to encourage faculty, staff and students of the Hebrew University to develop innovative methods and inventions with good commercial potential, which will benefit the university and society.

Ido Sagi received BSc summa cum laude in Life Sciences from the Hebrew University, and currently pursues a PhD at the laboratory of Prof. Nissim Benvenisty at the universitys Department of Genetics in the Alexander Silberman Institute of Life Sciences. He is a fellow of the Adams Fellowship of the Israel Academy of Sciences and Humanities, and has recently received the Rappaport Prize for Excellence in Biomedical Research. Sagis research focuses on studying genetic and epigenetic phenomena in human pluripotent stem cells, and his work has been published in leading scientific journals, including Nature, Nature Genetics and Cell Stem Cell.

Read the rest here:
Hebrew U Isolates 'Haploid' Human Stem Cells, Changing Future of Medicine - The Jewish Press - JewishPress.com

The Hindu

The problematics of genetics and the Aryan issue - The Hindu The Hindu Tony Joseph's article (How genetics is settling the Aryan migration debate, June 16) on how recent genetic studies of Indian populations might be settling the ... and more »

View post:
The problematics of genetics and the Aryan issue - The Hindu - The Hindu

Martin Ogando and his 91-year-old grandmother, Delia Giovanola, flip through a stack of photos until they reach an image of a man Ogando never saw in life: his father.

The two share similar skin tone and blue eyes products of the same genetics that finally allowed Ogando to discover his birth identity through DNA tests in November 2015.

The tests showed that he's the biological son of Jorge Ogando and Stella Maris Montesano, a child born in captivity in a clandestine detention center and taken away from parents who were forcibly disappeared in 1976 during Argentina's dictatorship.

"I found out the truth about my life," Ogando said of the tests that also reunited him with his grandmother. "A beautiful, but heavy truth."

During the 1976-1983 dictatorship, Argentina's military rulers systematically stole babies born to political prisoners, most of whom were then killed. Some 30,000 people died or were disappeared for political reasons during the dictatorship, according to human rights groups.

The search for those children spearheaded by the Grandmothers of Plaza de Mayo human rights group, led to breakthrough advancements in DNA identification.

The group emerged from gatherings of grandmothers who marched every week in front of the main square in Buenos Aires to demand the missing children. They also traveled around the globe in search of experts to find out if it was possible to determine the parenthood of the stolen babies, perhaps from blood samples.

"What were we supposed to do?" said Giovanola, one of the founders of the Grandmothers group. "Blood from whom? First we needed to find the baby. And then, the problem was that we lacked the blood samples from the parents. That's why the whole family on the mother and the father's side began to give blood."

The Grandmothers turned for help to U.S. geneticist Mary-Claire King, who in 1984 worked with Argentine colleagues to identify by genetic analysis the first confirmed stolen child. She later developed a system using mitochondrial DNA, which is inherited only from mothers, to identify individuals.

That led officials in the post-dictatorship era with strong prodding from the Grandmothers to pass a law formally creating Argentina's National Genetics Bank, the first of its kind in the world, which is now celebrating its 30th anniversary.

The institution's head, Mariana Herrera, noted that the institution was created by the government to solve crimes committed by the state itself. "There's nowhere else where this has turned into a policy to repair human rights abuses," she said.

The bank contains a database of blood samples collected from families searching for kidnapped children as well as adults who suspect they might have been stolen as infants.

To date, 122 cases of stolen children have been resolved most by the Genetics Bank but several hundred remain unaccounted for.

The bank has become a world authority in the matter, helping Colombia, Peru and El Salvador find the disappeared from their own conflicts. It's also provided information to the group Bring Back Our Girls of Nigeria, which has been hunting for the children stolen by the militant Islamist group Boko Haram.

The 40-year-old Ogando, a Doral, Florida, resident who was known for most of his life as Diego Berestycki, contacted the Grandmothers and carried out the test after the man who raised him died.

"I would have loved to have met my parents. From what my grandma tells me, I looked a lot like my dad. I even walked like him," Ogando said.

See more here:
Genetic bank that ID's Argentina's stolen babies turns 30 - ABC News