A mysterious medical condition gets a name – and a genetic link to deafness – Napa Valley Register

He loves dancing to songs, such as Michael Jacksons Beat It and the Macarena, but he cant listen to music in the usual way. He laughs whenever someone takes his picture with a camera flash, which is the only intensity of light he can perceive. He loves trying to balance himself, but his legs dont allow him to walk without support.

He is one in a million, literally.

Born deaf-blind and with a condition, osteopetrosis, that makes bones both dense and fragile, 6-year-old Orion Theodore Withrow is among an unknown number of children with a newly identified genetic disorder that researchers are just beginning to decipher. It goes by an acronym, COMMAD, that gives little away until each letter is explained, revealing an array of problems that also affect eye formation and pigmentation in eyes, skin and hair. The rare disorder severely impairs the persons ability to communicate.

Children such as Orion, who are born to genetically deaf parents, are at a higher risk, according to a recent study published in the American Journal of Human Genetics. The finding has important implications for the deaf community, said its senior author, Brian Brooks, clinical director and chief of the Pediatric, Developmental and Genetic Ophthalmology Section at the National Eye Institute.

It is relatively common for folks in deaf community to marry each other, he said, and whats key is whether each of the couple has a specific genetic misspelling that causes a syndrome called Waardenburg 2A. If yes, theres the likelihood of a child inheriting the mutation from both parents. The result, researchers found, is COMMAD.

Because the disorder was only recently identified, there is much to learn about its impact over a lifetime. Brooks, who estimates that fewer than one person in a million is affected, has seen only a couple cases. Orion is one of them.

When Withrow was pregnant with Orion, she and her husband, Thomas Withrow Jr., suspected that he might be born deaf. While their daughter, 11-year-old Anastasia, has normal hearing, their other son, 12-year-old Skyler, is deaf. Then the results of initial imaging showed their third child would likely be born blind.

A subsequent MRI raised even more worries, suggesting that they were confronting trisomy 13, a chromosomal condition involving devastating physical abnormalities. Her doctor recommended the pregnancy be terminated.

We just closed that discussion quick, Withrow recalled through an interpreter. It is sad when people think, Oh well, he is going to be disabled so go ahead and end his life. Its in Gods hands. It was not my decision to make, and it wasnt my husbands decision to make.

Even though he could not see, Orions right eye would occasionally react to bright light. At just several months of age, he had special prostheses similar to jumbo contact lensescalled shellsinserted over his eyeballs to allow the sockets to grow proportionally with his face. And he started physical therapy to improve his motor functions. By the time he was 18 months old, he was able to keep his head straight, his mother said.

COMMAD explains those problems and others, Withrow now knows. It stands for coloboma (a condition in which normal tissue in or around the eye is missing), osteopetrosis (abnormally dense bones prone to fracture), microphthalmia (small or abnormally formed eyes), macrocephaly (abnormal enlargement of the head), albinism (lack of pigment or more specifically melanin in the skin, hair, and eyes) and deafness.

COMMAD can affect Orion in unusual ways. His body clock keeps its own schedule, his mother said, making it difficult for him to distinguish day and night: He would think its morning outside at 2 a.m., and he would want to play at a time when we want to go to sleep.

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A mysterious medical condition gets a name - and a genetic link to deafness - Napa Valley Register

Study identifies 90 genes in fat that may contribute to dangerous diseases – Science Daily

Study identifies 90 genes in fat that may contribute to dangerous diseases
Science Daily
Unlike many genetics studies, the huge project looked at how genes' activity actually manifests in human patients -- in this case, 770 Finnish men. The results will help doctors and scientists better understand how normal gene variations can affect ...

and more »

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Study identifies 90 genes in fat that may contribute to dangerous diseases - Science Daily

History is Altoona man’s hobby, and genetics is livelihood – Altoona Mirror

Mirror photo by Cherie Hicks Michael Farrow sits in his Altoona home next to an 1850 marble fireplace that came from his aunts house in Philadelphia. The author of Altoonas Historic Mishler Theatre will receive the 2016 Angel of the Arts award from the Blair County Foundation on Saturday.

Michael Farrow was educated in human genetics and spent a career in the emerging field. But he has spent his retirement indulging his love of history and the arts, roused by youthful summers spent at his grandparents in Philadelphia.

He researched and wrote Altoonas Historic Mishler Theatre, published last year. For that, the Blair County Arts Foundation is honoring him with its 2016 Angel of the Arts award at its annual dinner on Saturday.

He devoted three years of his life to it and is giving all the proceeds to the Mishler, said Kate Shaffer, BCAF executive director.

She said the 174-page hardback book created a magnificent retrospective of the Mishlers past, present and potential.

Farrow said the award surprises him because even though he was born and mostly raised in Altoona, he went away for his college and career.

Im just somebody who came back to town (six) years ago after being gone for years, he said.

Farrow wasnt supposed to grow up here. Less than a year after he was born, his father, a medical doctor, took the family and his practice to a Boston suburb to take care of soldiers returning from World War II.

But, in 1943, when Farrow was 4, his father contracted strep throat from a patient and died; penicillin, only recently discovered, was not widely available.

The family eventually returned to Altoona, where Farrow attended Adams Elementary, Roosevelt Junior High and Altoona High, graduating in 1957. Summers were spent crisscrossing Philadelphia for its historical sites, museums and art.

For 12 years, I was immersed in all this history, said Farrow.

Although his grandparents were of Lebanese descent having immigrated in the late 19th century they lived near a neighborhood of working-class Italian immigrants, who would sit on their front stoops, talk and listen to music blaring from inside. That is where Farrow picked up his love of opera.

He bragged on the Altoona schools music programs, and he was in the band. He also spent a lot of time in movie theaters there were 10 in Altoona in the 1950s, he noted.

Farrow didnt consider music or art as a career because he was afraid he would end up as a teacher, an occupation he didnt want.

Just as he was getting his bachelors in biology from Juniata College in 1961, details of DNA were emerging, even though research had been devoted to agriculture.

Farrow then went to West Virginia University, earning his masters and doctorate in human genetics in 1970. He spent a one-year fellowship as a genetic counselor at WVU, fielding questions from mothers in the regions hollows and researching drugs used in leukemia patients.

Genetics was an up and coming field and the more I got into it, I found it fascinating, he said.

Drug companies began studying how their drugs and chemicals affected human genetics. Farrow went to work for Wyeth in Philadelphia, creating its first genetics lab and conducting tests to determine the toxicologic effect of chemicals and drugs on bacteria, animals and humans.

Then the federal Environmental Protection Agency began researching the effects of pesticides on humans and contracted with research companies to set up testing procedures. Farrow left Wyeth for Washington, D.C., and got in on the ground floor of breakthrough government research.

He worked for several contractors, building genetics laboratories, developing testing protocols and researching the effects of pesticides and drugs on humans. He spent the last two dozen years of his career working to get drugs and chemicals registered for government controls.

Farrow retired in 2005 and decided five years later to return to Altoona to be near his siblings after his mother died.

He delved into history research, publishing his first book on all those movie theaters he had visited as a youngster. Now Showing: A History of Altoona and Blair County Theatres was published in 2013 and sold out in two months.

Then he took a month off before starting Altoonas Historic Mishler Theatre.

Farrow now works on myriad projects for the Blair County Historical Society and its Baker Mansion, as a board member, and researching historical venues and conducting lectures and tours, such as historical neighborhoods and churches.

The fourth-generation Lebanese-American also plans to write a history on the 100 or so families that immigrated from Lebanon and Syria to Altoona well over a century ago.

If you really love something that doesnt have a lot of opportunities, make it your hobby and make a living at something you love as well, he said.

That hobby, he said, also helps him support causes that he loves.

I like Altoona and all the arts. They need money, he said. How can I support them if Im not a millionaire? I can lend my talent. Plus I get a high finding the history and these little unknown tidbits that are fascinating.

Mirror Staff Writer Cherie Hicks is at 949-7030.

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History is Altoona man's hobby, and genetics is livelihood - Altoona Mirror

Lab-grown humans soon – Times LIVE

Cambridge University researchers mixed two kinds of mouse stem cell and placed them on a 3D scaffold. After four days of growth in a tank of chemicals designed to mimic conditions in the womb, the cells formed the structure of a living mouse embryo.

The breakthrough has been described as a "masterpiece" in bioengineering that might eventually allow scientists to grow human embryos without sperm or an egg.

Growing embryos would help researchers study the early stages of human life so they could understand why some pregnancies fail but the research is likely to raise questions about what constitutes human life.

Currently scientists can carry out experiments on embryos left over from IVF treatments but they are in short supply and must be destroyed after 14 days.

Scientists say that being able to create unlimited numbers of embryos in the lab could speed up research and perhaps overcome some of the ethical boundaries.

"We think that it will be possible to mimic a lot of the embryological development events occurring before 14 days using human stem cells," said the university's Magdalena Zernicka-Goetz, who led the research.

"We are very optimistic that this will allow us to study key events of this critical stage of human development without having to work on [IVF] embryos. Knowing how development normally occurs will allow us to understand why it so often goes wrong."

The embryos were created using genetically engineered stem cells coupled with extra-embryonic trophoblast stem cells, which form the placenta in a normal pregnancy.

Previous attempts to grow embryos using only one kind of stem cell proved unsuccessful because the cells would not assemble into their correct positions. But scientists discovered that when they added the second "placental" stem cells the two types of cell began to "talk to each other", telling each other where to assemble.

Together they eventually melded to form an embryonic structure, with two distinct clusters of cells at each end and a cavity in the middle in which the embryo would continue to develop. The embryo would not grow into a mouse because it lacked the stem cells that would make a yolk sack.

However, such work raises ethical questions about the "sanctity" of human life and whether it should be manipulated or created in the lab. Critics warn that allowing embryos to be grown for science opens the door to designer babies and genetically modified humans.

David King, director of the watchdog group Human Genetics Alert, said: "What concerns me about the possibility of artificial embryos is that this might become a route to creating genetically modified or even cloned babies.

"Until there is an enforceable global ban on those possibilities, as we saw with mitochondrial transfer, this kind of research risks doing the groundwork for entrepreneurs, who will use the technologies in countries with no regulation."

UK scientists will need to get permission from the Human Fertility and Embryology Authority before attempting to create human embryos using the technique, and experts have called for international dialogue before research can be allowed to progress.

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Lab-grown humans soon - Times LIVE

A mysterious medical condition gets a name – and a genetic link to deafness – Reading Eagle

Special To The Washington Post.

He loves dancing to songs, such as Michael Jackson's "Beat It" and the "Macarena," but he can't listen to music in the usual way. He laughs whenever someone takes his picture with a camera flash, which is the only intensity of light he can perceive. He loves trying to balance himself, but his legs don't allow him to walk without support.

He is one in a million, literally.

Born deaf-blind and with a condition, osteopetrosis, that makes bones both dense and fragile, 6-year-old Orion Theodore Withrow is among an unknown number of children with a newly identified genetic disorder that researchers are just beginning to decipher. It goes by an acronym, COMMAD, that gives little away until each letter is explained, revealing an array of problems that also affect eye formation and pigmentation in eyes, skin and hair. The rare disorder severely impairs the person's ability to communicate.

Children such as Orion, who are born to genetically deaf parents, are at a higher risk, according to a recent study published in the American Journal of Human Genetics. The finding has important implications for the deaf community, said its senior author, Brian Brooks, clinical director and chief of the Pediatric, Developmental and Genetic Ophthalmology Section at the National Eye Institute.

"It is relatively common for folks in deaf community to marry each other," he said, and what's key is whether each of the couple has a specific genetic "misspelling" that causes a syndrome called Waardenburg 2A. If yes, there's the likelihood of a child inheriting the mutation from both parents. The result, researchers found, is COMMAD.

Because the disorder was only recently identified, there is much to learn about its impact over a lifetime. Brooks, who estimates that fewer than one person in a million is affected, has seen only a couple cases. Orion is one of them.

The study's finding made things clearer for Heather Withrow, Orion's mother. "It was more like an 'Oh, cool, that explains it!' kind of discovery," she said from Austin, Texas, where the family lives.

When Withrow was pregnant with Orion, she and her husband, Thomas Withrow Jr., suspected that he might be born deaf. While their daughter, 11-year-old Anastasia, has normal hearing, their other son, 12-year-old Skyler, is deaf. Then the results of initial imaging showed their third child would likely be born blind.

A subsequent MRI raised even more worries, suggesting that they were confronting trisomy 13, a chromosomal condition involving devastating physical abnormalities. Her doctor recommended the pregnancy be terminated.

"We just closed that discussion quick," Withrow recalled through an interpreter. "It is sad when people think, 'Oh well, he is going to be disabled so go ahead and end his life.' It's in God's hands. It was not my decision to make, and it wasn't my husband's decision to make."

The couple started to educate themselves about deaf-blindness - a combination that magnifies the effects of each condition. They contacted resources such as Connections Beyond Sight and Sound, a Maryland-based project that helps parents of deaf-blind children. A meeting with one of its specialists was empowering preparation. "It helped us. It let us know that we could celebrate and be happy when he was born, and not be surprised," Withrow said.

Which is what happened. "We fell in love with him at first sight," she said. As she has described on a blog she writes, Orion was long and lean, "with snowy white hair and lashes, ice-melting smile, rich laughter."

Even though he could not see, Orion's right eye would occasionally react to bright light. At just several months of age, he had special prostheses similar to "jumbo" contact lenses - called shells - inserted over his eyeballs to allow the sockets to grow proportionally with his face. And he started physical therapy to improve his motor functions. By the time he was 18 months old, he was able to keep his head straight, his mother said.

COMMAD explains those problems and others, Withrow now knows. It stands for coloboma (a condition in which normal tissue in or around the eye is missing), osteopetrosis (abnormally dense bones prone to fracture), microphthalmia (small or abnormally formed eyes), macrocephaly (abnormal enlargement of the head), albinism (lack of pigment or more specifically melanin in the skin, hair, and eyes) and deafness.

COMMAD can affect Orion in unusual ways. His body clock keeps its own schedule, his mother said, making it difficult for him to distinguish day and night: "He would think it's morning outside at 2 a.m., and he would want to play at a time when we want to go to sleep."

Such differences sometimes wear down his parents. "Despite all that, everything we do with him and everything he learns is so worth it," Withrow said.

She frequently blogs about Orion's experiences - she calls her site "A Mom's Musings" - to help educate people about COMMAD and help other parents interact with deaf-blind children. At home, she and the rest of the family use a touch-based version of American Sign Language - teaching with objects such as a baby bottle, diaper and spoon - to communicate with Orion.

The caveat of the National Eye Institute's recent study is that knowledge about how to care for and interact with children who have COMMAD is still in its infancy, Brooks said. "We are trying to understand the best ways to listen to the children," he said.

For Withow, sharing knowledge is comforting.

"Orion's life is just as important as everyone else's," she said, "and we hope he has the same opportunities as others."

health-commad

_____

Keywords: deaf-blindness, rare genetic disorder, genetic mutation causing deafness, COMMAD, National Eye Institute

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A mysterious medical condition gets a name - and a genetic link to deafness - Reading Eagle

Human cloning a step closer after UK scientists create artificial embryos – RT

Human life could soon be replicated in a laboratory after scientists at the University of Cambridge successfully created artificial mouse embryos.

Scientists developed a mouse embryo structure using stem cells grown in the lab. The cells grew into primitive embryos that had identical internal structures to those that emerge during normal development in the womb.

The purpose of the research is to gain deeper insight into an embryos development just prior to implantation.

Read more

It marks a significant step forward, as previous attempts to grow embryo-like structures using only embryonic stem cells have only had limited success.

Im looking at it as a miracle of nature as well as trying to understand the process. Its incredibly beautiful that we can begin to understand those forces that give rise to self-organization during the earliest stage of development, Professor Zernicka-Goetz told the Guardian.

The researchers used a combination of genetically modified mouse cells, known as master cells, and a 3D scaffold, known as an extracellular matrix, on which the cells could grow. The resulting embryo looks almost identical to a natural mouse embryo.

If carried out on human embryos, the experiment could reveal the cause behind miscarriages and infertility, as it shows how genetic activity varies the way mammals grow right after conception.

The breakthrough, made by a team led by Magdalena Zernicka-Goetz, who last year discovered the way to keep embryos alive in the laboratory for up to 14 days, means that more embryos could be reproduced for research without sperm or egg donations, potentially also removing ethical issues surrounding embryo replication.

Both the embryonic and extraembryonic cells start to talk to each other and become organized into a structure that looks like and behaves like an embryo, said Zernicka-Goetz.

Read more

One in six pregnancies end in miscarriage, though there is still no explicit answer to how this happens.

If we can translate the knowledge into humans it will be incredibly powerful for understanding our own development at a stage when many human lives are lost, the professor said, according to the Times.

However researchers said although the artificial embryo closely resembles a natural one, it is unlikely to develop further into a healthy mouse fetus. This would require a yolk sac, which provides nourishment for the embryo and where blood vessels develop.

Experiments are currently carried out on leftover human embryos from In Vitro Fertilization (IVF), but these are often insufficient and can only be held for a maximum of 14 days under legal frameworks.

The outcome of the experiment has also been criticized by some concerned that it may pave the way for genetically modified (GM) humans.

What concerns me about the possibility of artificial embryos is that this may become a route to creating GM or even cloned babies, the director of Human Genetics Alert, Dr, David King, told the Telegraph.

Until there is an enforceable global ban on those possibilities this kind of research risks doing the scientific groundwork for entrepreneurs who will use the technologies in countries with no regulations.

The findings were published in the journal Science on Thursday.

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Human cloning a step closer after UK scientists create artificial embryos - RT

Assistant professor delivers genetic variation research on pine sawflies – UTA The Shorthorn

There is a lab in the University of Kentucky that smells like Christmas. This is where biology assistant professor Catherine Linnen conducts her research.

On Thursday, Linnen spoke about genetic variation caused by the environment. She is researching how insects called pine sawflies vary genetically based on their environment.

Her lab is filled with pine tree seedlings to feed and conduct experiments on these sawflies. Linnen is studying the color of the larvae and the body types and egg-laying patterns of mature females, she said.

Pine sawflies have different colors based on various factors. Surviving against predators and parasites is a major factor of this coloration. Some sawflies are white to camouflage themselves with the white-colored pine they live on. Others have spots to make it harder for parasites to penetrate their skin.

Linnen bred many species of pine sawflies and sped up the process by artificially hatching the eggs to be able to conduct her research faster, she said.

Pine sawflies mate on a host pine tree. The female then digs holes in pine needles to lay her eggs inside.

Linnen found that the smaller the pine leaf, the smaller the sawfly's body is and the fewer eggs it lays, she said.

She also found genetic differences occurred most based on the host plant, she said. Linnen studied geographic, historical and biological factors, and none had the same impact on genetic variation as the type of plant eaten.

Andrew Corbin, quantitative biology doctoral student, attended Linnens lecture and said he was especially interested in the dynamic between the host and parasite.

Biology senior Gavin Verdier said hes interested in the human genetics implications of this research. He said it was refreshing to do something without a grade attached and to hear different experts speak on a subject.

@FornariLoL

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Assistant professor delivers genetic variation research on pine sawflies - UTA The Shorthorn

Apple or pear waist-to-hip ratio and the risk of CHD and T2DM – Nature.com


Nature.com
Apple or pear waist-to-hip ratio and the risk of CHD and T2DM
Nature.com
Now, Emdin, Kathiresan and colleagues have used a human genetics tool known as Mendelian randomization to investigate whether a genetic predisposition to an elevated waist-to-hip ratio adjusted for body mass index (BMI) increases the risk of developing ...

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Apple or pear waist-to-hip ratio and the risk of CHD and T2DM - Nature.com

From cloning Dolly the sheep in a lab to gene editing dogs in a shed: progress? – The San Diego Union-Tribune

Cloning is making news again. Last week saw the 20th anniversary of a University of Edinburgh research teams announcement of the first successful cloning of a mammal from an adult cell Dolly the sheep.

The accomplishment made headlines worldwide for its audacity. The United Kingdom-based TechRadar website has a quick, clear recap:

She was a perfectly normal sheep in every way, except that she was an exact genetic copy of another one. ... Her creation was a biological triumph. Before Dolly, it was believed that animals could only be produced when an egg cell is fertilised by a sperm cell. ...

Dolly was created in a different way a process that biologists call somatic cell nuclear transfer. No sperm is involved instead, you use a body cell from an adult animal that you want to clone, and an egg cell. Remove the nucleus from both, pop the one from the body cell into the now-empty egg cell, and you get a cell that's ready to begin doubling. Zap it with some electricity and it'll start dividing.

The first cat was cloned in 2001 and the first dog in 2005. Now pet cloning is a fairly big business, with plenty of companies making pitches like this one from ViaGen:

A beloved pet is much like a family member. The unique life-enriching bond, the love and companionship a truly special pet provides us a unique sense of comfort and life-enriching fulfillment which is nearly impossible to extend beyond your pets natural lifespan. Until now.

But mammal cloning has had one of its biggest effects on an obscure corner of the sports world. In 2015, Vanity Fair explainedhow Argentine polo champion Adolfo Cambiasos 2007 loss of his beloved Aiken Cura, a white-faced chestnut stallion, led him to team with wealthy Texas entrepreneur Alan Meeker to have cloning revolutionize his sport.

Cambiaso had a veterinarian puncture his horses neck to get a tissue sample in the vague hope of bringing him back somehow.

Now he makes millions of dollars from cloned horses and regularly sees his old Aiken Cura model.

Cambiaso, Vanity Fair reports, is ...

... surprisingly shy. Walking across the Palermo polo field, where hes come to watch his oldest daughter play, he speaks in short spurts, as if he would rather not be talking to a stranger. Staring into the distance, he says, Today, seeing these clones is more normal for me. But seeing Cura alive again after so many years was really strange. Its still strange. Thank goodness I saved his cells.

In December, Cambiaso rode six clones of the same horsein the Palermo polo tournament in Buenos Aires to help his team win one of the sports biggest events. His company Crestview Genetics raises the cloned horses in Argentina and South Carolina and is now producing clones of Storm Cat, a descendant of Secretariat and the great-grandfather of 2015 Triple Crown champion American Pharoah. But they wont be showing up at the Kentucky Derby. Thoroughbred racing bans clones.

Lately, however, advances in the CRISPR/Cas9 gene editing tool and the way the technology has become far cheaper and more available make cloning feel tame and ho-hum to those who follow science blogs. The Singularity Hub website posted a storythis week about David Ishee, a Mississippi man with a GED degree who breeds gene-edited dogs and wants to use CRISPR to improve dogs health. (Because of severe in-breeding, dogs have the most genetic diseasesof any species.) The story said:

Youd think that to tweak the genome of an animal, some serious training and education would be necessary maybe a post-graduate biology degree or several years working in the lab of a large genetics company.

But in a prime example of both the democratization and demonetization of technology, Ishee taught himself to do genetic engineering right in his own backyard shed, using a kit and some DNA he ordered online. ...

That experimentation could just as easily be done by our next-door neighbor as by a government agency [is] an idea that will take some getting used to. As Ishee put it:

When you think about genetic engineering, you think of Ph.D.s in white coats working in multimillion-dollar labs. The idea of a dog breeder in rural Mississippi doing genetic engineering in his shed is insane. But thats how you know youre in the future, right?

Ishees next project editing the genes of dalmatians to limit their susceptibility to a deadly bladder ailment is on hold. In January, the FDA issued a directiveon genetic engineering that included a ban on editing the genomes of animals.

So humanity realizes the stakes at hand, and wont rush into an era in which animal gene-editing inevitably morphs into human gene-editing and designer babies, right?

Well, no. Scientists in China have been editing human genomesfor at least two years, using what The Verge described as non-viable human embryos that were incapable of growing into adults to see if they can edit out genes that are linked to a deadly blood disorder and to add a mutation to genomes to promote resistance to HIV. Last year, the United Kingdom also gave the go-ahead to similar experiments. And two weeks ago, a 21-member committee jointly created by the National Academy of Sciences and the National Academy of Medicine recommended the U.S. eventually allow human genetic engineering, but only to prevent babies from being born with diseases or disabilities.

If David Ishee can design dogs in his shed, does anyone really think human baby designing isnteventually going to be an immense phenomenon, with or without the governments blessing? If CRISPR can be used not just to prevent babies from being born with medical problems but to reduce their genetic predisposition to many diseases later in life, many millions of parents would want that for their children. And while the designers are at it, why not also nice teeth, enhanced intelligence and physical strength and a facial-structure gene or two from Beyonc or Jon Hamm available at a future genetic stock market in Hong Kong or Singapore? Or from a future genetic black market in the dark corners of the Internet?

Which brings us back to Cambiaso and his beloved Aiken Cura: Not just attractive people but elite athletes and geniuses may start thinking about having people puncture their necks to get tissue samples or start worrying about criminals taking a slice. Theres gold in them thar genes.

Reedis the Union-Tribunes deputy editorial and opinion editor. Twitter: @chrisreed99. If you have an idea for a topic that lends itself to this kind of treatment, please send it to chris.reed@sduniontribune.com.

Twitter:@sdutIdeas

Facebook:UTOpinion

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From cloning Dolly the sheep in a lab to gene editing dogs in a shed: progress? - The San Diego Union-Tribune

The Science and Ethics of Editing Human Embryos – Chicago Tonight | WTTW


Chicago Tonight | WTTW
The Science and Ethics of Editing Human Embryos
Chicago Tonight | WTTW
The idea of using this technology to edit human embryos to remove genetic mutations so that embryo can be free of disease is a positive thing, he said. The concern and problem is that if you now do research in that setting and you perfect the ...

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The Science and Ethics of Editing Human Embryos - Chicago Tonight | WTTW

Race, Science, and Razib Khan – Undark Magazine

On March 18, 2015, The New York Times announced that Razib Khan would become a contributing opinion writer. A day later, The Times terminated the contract.

Khans career exemplifies the sometimes-murky line between mainstream science and scientific racism.

At the time, Khan was a Ph.D. student in genetics at the University of California, Davis and a popular science blogger. He had written about science for The Times, Slate, The Guardian, and other mainstream publications. For years, Discover had hosted his genetics blog. The famed Harvard psychologist Steven Pinker had even called him an insightful commentator on all things genetic.

I have been made aware that Breitbart News has used photos of me in an article about [the] alt-right,' Razib Khan wrote on Twitter last year. To be clear, Im not alt-right.'

Khan had also spent more than a decade hanging around the white nationalist fringe. When The Times hired him, he was blogging at The Unz Review, an alternative media selection that would soon emerge as a platform for the alt-right, the loose movement of white nationalists and right-wing extremists that has come to new prominence with the presidency of Donald J. Trump. Khans fellow science blogger at The Unz Review was Steve Sailer, a right-wing journalist and the author of a biography of Barack Obama titled Americas Half-Blood Prince.

Fragments from that part of Khans life started circulating online almost immediately after the news of his appointment at The Times was announced. Those fragments included a letter he had written in 2000 to VDare, a white-nationalist website, suggesting among other things that black people are innately less intelligent than white people. Later that week, a spokeswoman for The Times issued a statement saying after reviewing the full body of Razib Khans work, we are no longer comfortable using him as a regular, periodic contributor.

Almost two years later, the alt-right and its obsessions with race are ascendant and scientific arguments are central to the movements ideological claims. Not surprisingly, Khans story has stuck around. Two prominent writers for Breitbart, the alt-right news outlet whose former executive chairman, Stephen Bannon, now serves as chief strategist in Trumps White House, mentioned Khan sympathetically in a widely-read manifesto published last spring. Those writers Milo Yiannopoulos, who resigned from Breitbart last week, and Allum Bokhari lamented that Khan had lost an opportunity at The New York Times over his views on human biodiversity.

Yiannopoulos, who has been banned from Twitter for inciting harassment, and who was shouted down by protesting students before a scheduled appearance at UC Davis last month, has since used Khans story in his public speeches.

For all of this, dismissing Khan as a crank would be a mistake. While his associations are extremist, his science is not, and very little of what he writes about human genetics falls outside the pale of ordinary scientific discourse. Khan is also not alone in bridging the worlds of scientific racism and mainstream science and science writing. The Times dropped Khan in 2015, less than a year after one of its own science journalists, Nicholas Wade, published a book that made more sustained, incendiary arguments about race, with far more blowback from scientists.

Still, Khans career exemplifies the sometimes-murky line between mainstream science and scientific racism, and it illustrates how difficult it can be to define the boundaries between acceptable and unacceptable speech about race and to understand what, if anything, science has to do with it.

This issue isnt going away. Researchers are getting better at quantifying minute differences among individuals and among groups, and their findings will almost certainly be used, as they have long been, by people willing to ascribe a sort of racial destiny to all manner of human virtues and faults. Most scientists will object to this application of their work, but the illiberal challenges to scientific scholarship, perhaps now more than ever, seem destined to come not just from creationists and neo-skinheads, but from self-styled hyper-rationalists, too from people who adhere to what they consider a science-first worldview, who often ignore history and social context, and who are predisposed to drawing troubling, and sometimes patently racist conclusions based on otherwise dispassionate science.

In other words, theyll come from people who sound a lot like Razib Khan.

Seventeen years ago, when scientists announced the first full sequencing of the human genome, it was heralded as a breakthrough that would quash scientific racism. At a White House press conference, Craig Venter, the head of Celera Genomics, announced that one goal of the work was to help illustrate that the concept of race has no genetic or scientific basis. In the five genomes they sequenced, Venter said, there is no way to tell one ethnicity from the other.

We just have to understand that these categories are ones that human beings make, said Ann Morning, a sociologist at New York University who studies racial classification.

Scientific racists people who argue that their ideas about racial hierarchies are rooted in biological facts about human difference have been peddling their ideas for more than a century. But Venter and others were betting that the sequencing of the human genome would show that race is mostly a social construct.

This idea is easy to caricature. Everyone recognizes that human traits, like height and skin color, are variable. But the particular way we choose to sort people into buckets based on that variation is far more arbitrary and largely unscientific. We just have to understand that these categories are ones that human beings make, said Ann Morning, a sociologist at New York University who studies racial classification. They are not rules which are handed down to us by Mother Nature. In that sense, racial categories are like astrological categories: These are both systems for classifying people to help make sense of why they act the way they do.

In fact, from a genes-eye point of view, racial groupings dont make much sense at all. People from different regions in Africa can as genetically distant from each other than as a Greek is from an ethnic Korean. People who are considered black in the United States may get the majority of their genetic material from Europe.

Researchers are getting better at quantifying minute differences among individuals and among groups, and their findings will almost certainly be used by people willing to ascribe a sort of racial destiny to all manner of human virtues and faults.

Visual by Undark/iStock.com

Personal genetics provides a good way to map human similarities. But it also provides new opportunities to quantify human difference. Today, white nationalists buy 23andMe tests to prove their whiteness. Alt-right thinkers argue that genetics shows that racial differences do have a biological basis. Scientific racists look for evidence that there are deep, innate differences between racial groups, especially with respect to intelligence.

Behind every racist joke is a scientific fact, Milo Yiannopoulos told Bloomberg last year. Richard Spencer, the young neo-Nazi who coined the term alt-right and who became famous recently for receiving an enthusiastic punch to the head in video that quickly went viral publishes a journal that often includes articles about human evolution and genetics. Steve Sailer has also helped rebrand scientific racism as human biodiversity.

The entire Alt Right is united in contempt for the idea that race is only a social construct, the Yale-educated white nationalist Jared Taylor wrote last fall. Race is a biological fact.

Few writers have moved more comfortably between the worlds of mainstream science writing and the alt-right than Razib Khan. A fast-talking autodidact with right-wing political views, Khan writes about everything from foreign policy to CRISPR. A recurring theme of his work is that racial differences are real, and that they have a biological underpinning that theyre both social constructs and biological truths.

Khan was raised by Bangladeshi immigrants in eastern Oregon, an atheist brown kid in a highly religious, conservative, Republican area, as he puts it now. In the late 1990s, he started exploring the nascent right-wing blogosphere. Around 2000, he joined a private email discussion group about human biodiversity organized by Sailer. (More mainstream academics, including Steven Pinker, were also in the group).

Not long after that, Khan helped a geneticist friend start a blog about science. They called it Gene Expression GNXP, for short. Its writers discussed technical topics, as well as issues with a more political edge, like gender and racial differences.

A few years later, Khan went on the payroll of Ron Unz, a libertarian who ran for governor of California in 1994. Unz, who made a fortune in software development, offered Khan something that Unz describes as a sort of fellowship or junior fellowship to further his scientific career. Both Khan and Unz are vague about the reasons for the fellowship, but the gift was contingent on Khan leaving his job in software to focus on a scientific career. It was a big part of why he got on a graduate school track and ended up at UC Davis.

Khan says that he was caught off guard by the sudden rise of the alt-right, and by the extremist turn of Unzs website.

Unzs grants reflect the diversity of his interests, which include Israel, non-interventionist foreign policy, and human evolution. In 2009, for example, according to Unz Foundation tax documents, Unz gave $24,000 to Sailer; $500,000 to the University of Utah evolutionary anthropologist Gregory Cochran, known for his controversial research on recent human evolution and Ashkenazi Jewish intelligence; and $108,000 to Khan, to be paid out over three years.

Unz was not Khans only link to the emerging alt-right fringe. In 2009, Khan spent a year blogging for Takis Magazine, a white-supremacist site, at the invitation of Richard Spencer. There, Khan wrote posts about everything from genes to Freud to Jewish intelligence. In one back-and-forth, he and Spencer analyzed the resemblance between Jews and the Vulcans in Star Trek.

This fall Spencer made national news after he organized a rally in Washington, D.C. that featured Hitler salutes and cries of Hail Trump! But Spencer was not a white nationalist then, Khan told me. (Recent reporting on Spencer documents him pivoting toward open support for white nationalism around the beginning of 2009, the same time that Khan joined Takis.)

At Discover Magazine, Khan once wondered why African bushmen are considered human, but bonobos are not.

Meanwhile, Khans mainstream science writing career was flourishing. He moved GNXP to ScienceBlogs, and then, in 2010, to the website of the very mainstream Discover Magazine. There, he wrote long posts about why race was biologically real. In one, he asked why African Bushmen are classified as human, and bonobos are not. In another post, he linked his science to his politics using language thats reminiscent of white nationalist arguments: The ultimate root of my conservatism is a fact, not a value, Khan wrote. That fact is that human cognitive and behavioral variation is real and important. We are not uniform.

(I dont agree with that anymore, I guess, Khan told me more recently.)

When Unz started his own site in 2013, Khan signed on as his first writer. Soon, a rotating cast of bloggers joined him. While he was at The Unz Review, Khan continued with his genetics program at UC, Davis (he recently went on leave to join a biotech startup in Austin), wrote op-eds for The New York Times, and co-authored a piece for USA Today arguing that race is biologically real.

The way Khan tells the story, he was caught off guard by the sudden rise of the alt-right, and by the extremist turn of Unzs website. The day before I contacted him to request an interview, Khan announced that he was leaving The Unz Review. His new standalone blog, still called Gene Expression, launched in January. Over the phone, he told me that the move was partly because he wanted to be an independent blogger again, and partly because he had grown uncomfortable with some of the material on Unzs site. He framed the issue as an image problem, not a moral one. I wasnt comfortable with some of the co-branding, he said.

Hadnt Sailer and other Unz contributors been writing things like this for years? Khan said that he used to be more tolerant of those perspectives. Obviously, I dont condone it, he said. When I observed that standing by silently and even linking to Sailers work seemed like the definition of condone, Khan hesitated. In terms of being at Unz, I was probably there too long, he said.

Still, Khan insisted that his writing about the biology of race was sound. Its not socially acceptable to say that there might be group differences in an endophenotype in their behavior, intelligence, anything that might have any genetic component, Khan said. You cannot say that, okay? If someones going to ask me, Im going say, It could be true.

Other scientists, he insisted, believe the same things. They just wont admit it. Im sick of being the only fucking person that says anything, said Khan. I know I make people uncomfortable, but a lot of times I say what theyre thinking.

In terms of being at Unz, I was probably there too long, Khan said.

Visual by Undark/iStock.com

Many prominent geneticists familiar with Khans work do take him seriously. I dont agree with everything that Razib writes, but I think that he does write about population genetics very clearly, said Graham Coop, a population geneticist at UC Davis who serves on Khans dissertation committee, and who has taken a high-profile stance against scientific racism.

Michael Eisen, a biologist at UC Berkeley, described Khan as a very, very bright geneticist who understands modern human population genetics as well as almost anybody. Eisen disagrees with many of Khans conclusions, and he said that Khan had allied himself, in one way or another, with people whose views are not just repugnant theyre just wrong. But, Eisen added, I think many of the things Razib writes highlight the implications of modern genetic research in ways that people find upsetting, but arent necessarily wrong.

What does this say about the post-racial genetics that Craig Venter imagined nearly two decades ago?

It depends on how you parse it. Sarah Tishkoff, a geneticist at the University of Pennsylvania, helped write a 2016 Science paper recommending that researchers stop using the concept of race in human genetics research. Still, she told me, population clusters exist. We can see that there are differences, Tishkoff said. But then you have to ask the question, What do those differences mean? Do they correlate with so-called racial classifications? No, actually they dont.

Joseph Graves, Jr., an evolutionary biologist who writes about the biology of race, was more skeptical about clustering. Instead of distinct human groups, he said, one population grades into another, forming continua called clines. Theres no unambiguous way to cluster individuals and say where one cluster begins and another one ends. Its dependent upon the dataset you have. Its dependent upon the genetic markers you look at. But the best models of human population show that were a continuous cline.

Eisen made a similar point about the difficulty of making categories. But he cautioned against saying that everything is clines. It also is not true that were a uniformly mixing population.

The bigger question, of course, is why any of this matters to these scientists. Heres one potential reason: Geneticists will soon get much better at understanding how genes contribute to complex, elusive traits like intelligence. Inevitably, some people will try to connect the dots and show that the genes influencing trait like intelligence differ between these population groups.

Im sick of being the only fucking person that says anything, said Khan. I know I make people uncomfortable, but a lot of times I say what theyre thinking.

Khan is blunt about those implications. Honestly, I would just sit on my hands for now, Khan recently responded to a GNXP commenter who was curious about the relationship between race and IQ. In the next < 5 years, he wrote, the genomic components of traits like intelligence will finally be characterized.

Simply pondering such issues will strike many people as racist. Asking a question, even skeptically, can offer an implicit endorsement of its premises. But while its possible to fire Khan from The Times or act as if the alt-right is a marginal movement, these questions are not necessarily fringe. And theres no agreement about when, if ever, it is appropriate to ask them.

Little illustrates those inconsistencies better than the case of Nicholas Wade, who was working at The Times as a science reporter when Khan was hired, and then dropped, from the op-ed page.

Wades 2014 book, A Troublesome Inheritance, marshals genetic evidence to argue that racial differences are real and have deep biological roots. Then Wade argues that these differences explain global disparities, such as why Haiti is more impoverished than Iceland, or why political structures in Europe are different than those in East Asia where, Wade argues, people are genetically predisposed to be more docile.

Graham Coop, Khans dissertation adviser, helped gather more than one hundred biologists to sign a letter to The Times denouncing the book. Even Khan described it as not a very good book. Graves told me that Wade is a die-hard racist.

After The Times dropped Khan, Eisen went on Twitter to point out the contradiction. The thing that galled me in particular, and that led to that tweet, is theyve been giving large amounts of print space to Nicholas Wade, who is unambiguously and unintelligently a racist in his writing, Eisen told me. Wade has been pushing these basically sort of facile, eugenicist views of the world for 20 years.

A Troublesome Inheritance remains very popular on the alt-right, and Wade has done little to discourage this. After the book came out, he did a long, warm podcast interview with white nationalist Taylor.

I cant control how people use the book, said Wade, who retired from The Times last year but still regularly contributes freelance articles to its science section and who was himself interviewed by Khan back in 2010. Wade insisted that the book was not racist, but in an phone call, he also did not take an opportunity to disavow the white nationalists who have embraced it. He was dismissive of the controversy that surrounded A Troublesome Inheritance, and of the biologists letter to The Times. It was an attempt to suppress a discussion of race, Wade said. Almost everything in the book you can find in The New York Times in my articles, and none of these guys objected at the time.

It is true that many of the ideas expressed in the book are not exactly new. Other books most notably The Bell Curve, a 1994 bestseller that infamously argued that black people are innately less intelligent than white people have argued that racial groups are real, that there are substantial behavioral differences among them, and that those differences may explain political realities. And sociological studies of the public suggest that white Americans are likelier to ascribe a genetic cause to the behavior of black people than they are of white people.

Does that mean that uncomfortable scientific findings should be censored? Wade, Khan, and others often argue that their voices are suppressed by a politically correct academic left. In one recent Unz Review post about an academic who received blowback for speculating about racial difference, Khan wrote that the extremely vehement reactions on this topic reveal an aspect of how ideas are policed in our society.

I ran that notion by Graves, who in 1988 was the first African-American to receive a Ph.D. in evolutionary biology. Graves studies the evolution of aging, but, after the publication of The Bell Curve, he started writing about race, too. I went through an educational system, from kindergarten through my Ph.D., that was profoundly racist and that threw roadblocks against my progression at every step of my career. I had no desire to start writing about racism in genetics and evolution. That wasnt my interest. But I couldnt avoid it, because those theories were being directed against me, against my family, against my friends, Graves said.

When I showed Graves the passage about policing ideas, he sounded incredulous at the thought that these such views were being suppressed. I dont know what society he lives in, Graves said. In the societies Ive lived in, racism has been the norm.

The belief in perfect hyper-rationality, divorced from any kind of bias or preconception, can be its own kind of political fantasy.

A few years ago, Jacob Tennessen, an evolutionary geneticist at Oregon State University, joined Twitter. He expected to deal with creationists. Instead, he says, the aggressive pseudoscience came from racists and, specifically, people within the human biodiversity movement, who kept arguing that traits like intelligence had clearly been subject to recent, sharp evolutionary shifts that left some racial groups smarter than others.

The people he encounters online are pro-science and pro-evolution, but what theyre doing is not science at all, Tennessen told me. Its a really dangerous pseudoscience.

For all the attention that creationists receive, Tennessens kind of experience may be more typical and more important. How, though, should geneticists respond to people who draw racist conclusions from their work? That question is only going to become more pressing. Genes continue to play an outsize role in popular understandings of human nature. Personal genetic testing services are making discussions about ancestry, race, and genes more accessible and more commercialized than ever before. And the internet is lending a platform to a whole new generation of tech-savvy scientific racists.

Faced with that challenge, Khan may be a textbook example of what geneticists should not do: namely, focus on the science alone, and act as if the context doesnt matter. The science is always prior to everything else, Khan told me. Everything else is just commentary. If the commentary comes before science, thats a problem, but thats how a lot of discourse works. I understand. Im not trying to be naive about it. But the reality is thats not how I work.

Can science be severed quite so easily from politics? Khans own story, which includes financial and ideological entanglements with the alt-right, seems like evidence that it cannot. The belief in perfect hyper-rationality, divorced from any kind of bias or preconception, can be its own kind of political fantasy.

For better or for worse, science does have a way of working itself into political ideologies, just as political ideologies can shape the choices that scientists and others make. Historically, thats often been the case with the study of race. Morning, the NYU sociologist, points out that new generations using new technologies often seem to circle back to old prejudices.

Theres a long history in the West of trying to use biological data to claim that there are such things as a handful of discrete races, she said. But whether the ostensibly impartial data are blood types, like they would have been a century ago, or genes today, or skull sizes, the results are familiar: Its always about reproducing the same hierarchy.

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Striking Number of Genetic Changes Can Occur Early in Human Development – Laboratory Equipment

The genetic material of an organism encodes the instructions that guide its development. These codes are not written in stone; they can change or mutate any time during the life of the organism. Single changes in the code can occur spontaneously, as a mutation, causing developmental problems.

Others, as an international team of researchers has discovered, are too numerous to be explained by random mutation processes present in the general population. When such multiple genetic changes occur before or early after conception, they may inform scientists about fundamental knowledge underlying many diseases. The study appears in Cell.

"As a part of the clinical evaluation of young patients with a variety of developmental issues, we performed clinical genomic studies and analyzed the genetic material of more than 60,000 individuals. Most of the samples were analyzed at Baylor Genetics laboratories," said lead author Pengfei Liu, assistant professor of molecular and human genetics Baylor College of Medicine and assistant laboratory director of Baylor Genetics. "Of these samples, five had extreme numbers of genetic changes that could not be explained by random events alone."

The researchers looked at a type of genetic change called copy number variants, which refers to the number of copies of genes in human DNA. Normally we each have two copies of each gene located on a pair of homologous chromosomes.

"Copy number variants in human DNA can be compared to repeated or missing paragraphs or pages of text in a book," said senior author James R. Lupski, Cullen Professor of Molecular and Human Genetics at Baylor. "For instance, if one or two pages are duplicated in a book it could be explained by random mistakes. On the other hand, if 10 different pages are duplicated, you have to suspect that it did not happen by chance. We want to understand the basic mechanism underlying these multiple new copy number variant mutations in the human genome."

The researchers call this phenomenon multiple de novo copy number variants. As the name indicates, the copy number variants are many and new (de novo). The latter means that the patients carrying the genetic changes did not inherit them from their parents because neither the mother nor the father carries the changes.

In this rare phenomenon, the copy number variants are predominantly gains duplications and triplications rather than losses of genetic material, and are present in all the cells of the child. The last piece of evidence together with the fact that the parents do not carry the alterations suggest that the extra copies of genes may have occurred either in the sperm or the egg, the parent's germ cells, and before or very early after fertilization.

"This burst of genetic changes happens only during the early stages of embryonic development and then it stops," Liu said. "Interestingly, despite having a large number of mutations, the young patients present with relatively mild neurological problems."

The researchers are analyzing more patient samples looking for additional cases of multiple copy number variants to continue their investigation of what may trigger this rare phenomenon.

"We hope that as more researchers around the world learn about this and confirm it, the number of cases will increase," Liu said. "This will improve our understanding of the underlying mechanism and of why and how pathogenic copy number variants arise not only in developmental disorders but in cancers."

This discovery was made possible in great measure thanks to the breadth of genetic testing performed and genomic data available at Baylor Genetics laboratory.

"The diagnostics lab Baylor Genetics is one of the pioneers in this new era of clinical genomics-supported medical practice and disease gene discovery research," Lupski said. "They are developing the clinical genomics necessary to foster and support the Precision Medicine Initiative of the National Institutes of Health, and generating the genomics data that further drives human genome research."

Using state-of-the art technologies and highly-trained personnel, Baylor Genetics analyzes hundreds of samples daily for genetic evaluation of patients with conditions suspected to have underlying genetic factors potentially contributing to their disease. Having this wealth of information and insight into the genetic mechanisms of disease offers now the possibility of advancing medicine and basic research in ways that were not available before.

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Striking Number of Genetic Changes Can Occur Early in Human Development - Laboratory Equipment

UCLA researchers describe methods for diagnosing diseases using genetics – Daily Bruin

Two researchers from a UCLA clinical site explained the genetic approach to diagnosing rare diseases to about 50 UCLA students and faculty members Monday.

In honor of Rare Disease Day, Stanley Nelson and Christina Palmer, principal investigators of a UCLA clinical site, discussed how UCLA participates in the Undiagnosed Diseases Network. UCLA is one of seven clinical sites in the UDN, a network of researchers who study rare diseases and introduce further research possibilities based on a team science approach.

Team science is a collaborative research approach that is based on the overall contribution of the network, which includes clinicians, scientists, genetic counselors and other experts, Palmer said. For example, clinical sites such as UCLA provide patient evaluations while other sites act as laboratory cores that provide DNA sequencing.

Under the UDN, UCLA has worked with 63 patients with rare diseases. The network approach allows patients and physicians to seek out other individuals within the network who may be working with the same disease, Nelson said.

Lab investigations can also address a broad spectrum of rare diseases and increase the speed of testing for disease-specific concerns, Nelson said.

Palmer said patients must go through a comprehensive application process to be evaluated by the UDN. Each patient has to demonstrate that their rare disease has gone through extensive prior evaluation and submit other medical information.

Palmer added some diseases the UCLA researchers study include neurological diseases.

Nelson said the UDN uses genome sequencing in their research, which is done at UCLA prior to clinical evaluation. Sequencing patients DNA before evaluating them can present ethical limitations.

This can overwhelm patients with variants that might not be clinically relevant, Palmer said. There exists a potential for unnecessary tests and possible risks with related procedures, (and) patients wait longer for clinical visit.

Researchers gather phenotypes physical characteristics of participants from medical records, not in-person evaluations, Nelson said. Unlike other disorder researchers, who group patients with similar characteristics, UCLA researchers do not intentionally gather patients with similar phenotypes.

Palmer said clinical evaluations start after genome sequencing. Evaluations take one to five days and may include consultations with specialists and other medical tests.

As a clinical site, UCLA does not focus on treatment or symptom management of rare diseases, Nelson said. Although UCLA researchers aim to diagnose patients, doing so is difficult and not necessarily included in the patient follow-up.

About 70 percent of the patients UCLA is working with are children. Researchers have diagnosed five of 35 completed cases.

Siena Salgado, a third-year human biology and society student who attended the talk, said she had previously studied the sociological impacts of the UDNs structure. She said she was interested in the possible ethical implications of the UDNs genetic-based approach.

Michael Gorin, an ophthalmology and human genetics professor who attended the event, said he thinks the UDN becomes a compensatory process that catches up to other countries with health care systems that already have vested interests in genetic diseases.

The psychological benefit for patients to know why they have a disease is powerful, Gorin said. To be able to tell someone we know what genetic variance is causing this disease, even if we cant treat it removes guilt, uncertainty (and) gives people hope.

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UCLA researchers describe methods for diagnosing diseases using genetics - Daily Bruin

‘Genetics and Evolution of Infectious Diseases’ Announces Updates – Broadway World

CAMBRIDGE, MA - Elsevier, a world-leading provider of scientific, technical and medical information products and services, today announced the publication of an updated edition of its valuable reference, Genetics and Evolution of Infectious Diseases, edited by Michel Tibayrenc. This book is aimed at controlling and preventing neglected and emerging worldwide diseases that are a major cause of global morbidity, disability and mortality. Using an integrated approach, the book discusses the constantly evolving field of infectious diseases and their continued impact on the health of populations, especially in resource-limited areas of the world. At the same time, Elsevier announced five additional immunology, virology and microbiology books.

Genetics and Evolution of Infectious Diseases, Second Edition looks at the worldwide human immunodeficiency virus (HIV) pandemic, increasing antimicrobial resistance, and the emergence of many new bacterial, fungal, parasitic and viral pathogens. With contributions from leading authorities, the book includes developments in the field of infectious disease since it was last published in 2010. It demonstrates how the economic, social and political burden of infectious diseases is most evident in developing countries which must confront the dual burden of death and disability due to infectious and chronic illnesses.

Learn more about infectious disease genomics in this sample chapter.

Michel Tibayrenc, M.D., Ph.D., has worked on the evolution of infectious diseases for more than 35 years. He is a director of research emeritus at the French Institut de Recherche pour le Dveloppement (IRD) Montpellier, France, and the founder and principal organizer of the international congresses MEEGID (molecular epidemiology and evolutionary genetics of infectious diseases). The author of more than 200 international papers, Dr, Tibayrenc has been the head of the unit of research "genetics and evolution of infectious diseases" at the IRD research center for 20 years. With his collaborator, Jenny Telleria, he is the founder and scientific adviser of the Bolivian Society of Human Genetics. Dr. Tibayrenc has won the prize of the Belgian Society of Tropical Medicine (1985), and the medal of the Instituto Oswaldo Cruz, Rio de Janeiro (2000), for his work on Chagas disease. A fellow of the American Association for the Advancement of Science, he is the founder and editor-in-chief of the Elsevier journal, "Infection, Genetics and Evolution."

The six new immunology, virology and microbiology titles are:

In order to meet content needs in immunology, virology and microbiology, Elsevier uses proprietary tools to identify the gaps in coverage of the topics. Editorial teams strategically fill those gaps with content written by key influencers in the field, giving students, faculty and researchers the content they need to answer challenging questions and improve outcomes. These new books, which will educate the next generation of immunologists and virologists, and provide critical foundational content for information professionals, are key examples of how Elsevier is enabling science to drive innovation.

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'Genetics and Evolution of Infectious Diseases' Announces Updates - Broadway World

Matching up fruit flies, mushroom toxins and human health – Phys.Org

February 27, 2017 by Allison Mills Drosophila guttifera is another species Thomas Werner studies in his genetics lab. Credit: Thomas Werner

Pulling data from 180 different lines of fruit flies, researchers from Michigan Technological University compared resistance to a toxin found in mushrooms like the Death Cap and Destroying Angel. Their results were published by PLOS ONE this week.

The team's main finding is the genetic mechanisms that control the toxin resistance correspond to the mammalian target of rapamycin (mTOR) pathway that regulates cell physiology and metabolism in humans and other mammals. The findings could open up new possibilities for studying cancer, obesity, type 2 diabetes, depression and neurodegenerative diseases.

Alpha-amanitin Resistance

Not all fruit flies come into the kitchen on grocery store bananas; not all fruit flies like mushrooms. With a surprising amount of diversity, fruit fly species have adapted many niche preferences, such as a tolerance for alpha-amanitin, or alpha-amanitin, a toxin found in the Amanita genus of poisonous mushrooms.

Thomas Werner, an assistant professor of biological sciences at Michigan Tech, is the corresponding author of the new PLOS ONE paper, and the study builds on his previous work showing how alpha-amanitin resistance may be related to pesticide resistance in Asian fruit fly strains. Ever since, he and his team have worked on figuring out how fruit flies build resistance to the toxins and the resistance's effects on longevity.

"We found that there are multiple mechanisms that make sense," Werner says, explaining that the mechanisms focused on the genetic regulation of detoxification enzymes. "And the more resistant the fruit flies were, the longer they lived."

Initially, the team looked at a single, highly resistant strain of Drosophila melanogaster from Taiwan. Then they pulled in 180 lines of fruit flies collected at a Raleigh, North Carolina farmer's market for comparison. The crew relied on nearly 30 undergraduates to help do prep in the lab; eight are co-authors on the paper.

mTOR Pathway

Werner's team used genome-wide association mapping to help connect the dots between varying levels of fruit fly resistance. By putting big data techniques to work, they were able to screen genetic traits and nucleotide sequences to better discern candidate genes that control the toxin resistance.

"To do the analysis, we decide on a trait, which we will test in all 180 lines," Werner says. "We selected mushroom toxin resistance and found continuous variation in the lines."

From there, the data are sorted into two columns. Werner and his team then had to look for corresponding sequences of genetic codelike an elaborate children's matching game. The result: the matches kept pointing to the mTOR pathway, which is shared among mammals and insects.

"It's a central metabolic pathway that is very complicatedit's a key hub that is being widely researched right now," Werner says.

This initial connection to mTOR opens up many new lines of study, particularly in human health. Werner also says digging deeper into why fruit flies evolve this resistance could shed light on its advantage as a pre-adaptation device. A better understanding of the resistance's evolution mechanisms could offer insight into many diseases including cancer, obesity, type 2 diabetes, depression and neurodegenerative diseases.

Explore further: Fruit fly genetics reveal pesticide resistance and insight into cancer

More information: PLOS ONE, DOI: 10.1371/journal.pone.0173162

For being so small, fruit flies have had a large impact on genetic research. Thomas Werner, an assistant professor of biological sciences at Michigan Technological University, has bridged the miniscule and the massive in ...

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Gang warfare is not unique to humans - banded mongooses do it too.

Wolbachia is the most successful parasite the world has ever known. You've never heard of it because it only infects bugs: millions upon millions of species of insects, spiders, centipedes and other arthropods all around ...

Most dog owners will tell you they consider their beloved pets to be members of their families. Now new research suggests that dogs may be even more like us than previously thought.

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Bringing back extinct species could lead to biodiversity loss rather than gain, according to work featuring University of Queensland researchers.

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Clues to relationship between schizophrenia and rheumatoid arthritis – Science Daily

Clues to relationship between schizophrenia and rheumatoid arthritis
Science Daily
... if individual genetic variants may exist that could have opposing effects on the risk of schizophrenia and rheumatoid arthritis," said co-senior author Vishwajit Nimgaonkar M.D., Ph.D., professor of psychiatry at Pitt's School of Medicine and human ...

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Art Made with Human DNA Explores the Future of Genetics in Birmingham – Labiotech.eu (blog)

Gene Craft: Art in the Biogenetic Ageopened this week at Birmingham Open Media (BOM) in the UK. Aiming to explore thesocial, economic and emotional implications of the most recent breakthroughs in genetics, the exhibition features two living art piecescreated with human DNAby bioartists Laurie Ramsell and Gina Czarnecki.

After theHuman Fertilisation and Embryology Authority (HFEA) approvedthe technology to create three-parent babies in the UK last December, many have started to question the broader implications of genetic technologies. The Gene Craft exhibition elaborates on this concept by presenting living artwork that makes visitors imagine a future of bioengineered beings built and controlled by humans.

The first piece is by British artist Laurie Ramsell,who explores the genetic relationship between humans and model organisms. One of them is the zebrafish, which is routinely used in research to understand basic molecular processes that can then be extrapolated to human biology.

Laurie Ramsells Homdanio Birminghamensis

Homdanio Birminghamensisis a sculpture taking the shape of a zebrafish embryo made from bacterial cellulose and the artists own DNA. The piecewas created in collaboration with professor and bioartist Simon Park. As part of the 100,000 Genomes Project, it is intended to raise public awareness about research into the human genome being pioneered at the University of Birmingham.

The second piece featured in the Gene Craft exhibition is Gina Czarneckis Heirloom, a living portrait of the artists daughters. Skin cells from the girls are cultured and grown onto glass casts of their faces, creating paper-thin portraits with their own DNA.

Gina Czarneckis Heirloom

Heirloom invites visitors to imagine a future where our own cells are grown on demand for medical applications. But, at the same time, it intends to highlight the ethical implicationsof these procedures regarding the ownership of our own biological materials.

Gene Craft: Art in the Biogenetic Age will be open until May 13 in Birmingham. During that time, the BOM gallery will host a series of talks and workshops to bring together artists and scientists and discuss the issues raised by the bioart pieces exhibited.

Images via BOM and Gina Czarnecki

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Art Made with Human DNA Explores the Future of Genetics in Birmingham - Labiotech.eu (blog)

Two Different Genetic Conditions Can Combine to Cause Severe … – Genetic Engineering & Biotechnology News

Scientists from the Rockefeller University have led a team of researchers to uncover how two different conditionsa genetic immunodeficiency and delayed acquired immunity--can combine to produce a life-threatening infection.

In the study ("Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity"),published online inCell,Jean-Laurent Casanova, M.D., Ph.D., head ofSt. Giles Laboratory of Human Genetics of Infectious Diseasesand a Howard Hughes Medical Institute Investigator,and his colleagues focused on the case of an otherwise healthy young girl who developed a life-threatening infection from a common strain of bacterium. Most of us carry Staphylococcus aureuson our skin and in our nostrils. It can cause minor infections (staph infections), but in some people, it results in severe disease.

The young girl's illness was mysterious. She had no known risk factors that would lead her to develop the acute form of the disease, and none of her family members had contracted it. So Dr. Casanova's group set out to define the underlying cause of her disease by searching her DNA for mutations that might make her more susceptible to staph disease.They quickly identified a likely culprita single-letter substitution in the two copies of a gene that encodes for the TIRAP, or Toll-interleukin 1 receptor domain containing adaptor, protein, used by specific immune cells to flag invading bacteria.

In laboratory experiments, the researchers found that TIRAP is critical for cells in the immune system's first line of defense against invaders. These are cells that develop before we are born, with built-in recognition systems for a host of molecules that are frequently present on the surface of invaders.

"We were sure this was the explanation for the severity of her staphylococcal disease," says Dr. Casanova. "We thought we had it all figured out."

But things turned out to be more complicated. To test his hypothesis, Dr. Casanova decided to analyze the DNA of other members of the patient's family. They hadn't suffered from severe staph infections, so they should have had normal TIRAP genes. However, he found the oppositeall seven members of her family had the same mutation as the young patient.

The researchers now had two questions instead of just one. Why did this child get the invasive disease? And why were the rest of her family seemingly immune, even though they shared her immune-compromising mutation?

The answers lie in a second line of immune defense that is not encoded within our DNA at birth. These secondary defenses are dependent on cells that generate antibodies against foreign compounds. "This is not something we are born with, but instead it is resistance that we acquire over the course of our lifetime when we are exposed to new pathogens," Dr. Casanova explains.

The researchers found that the patient lacked antibodies against a single molecule, known as lipoteichoic acid (LTA), but the levels were normal for all of her family members. LTA is present on the surface of staphylococcal bacteria, and normally it is recognized by immune cells in both lines of defense.

The antibodies against LTA were able to restore the function of the patient's immune cells in culture systems, and the researchers went on to confirm their hypothesis using a mouse model of the disease.

The results explain both why the patient developed life-threatening disease and why her family members didn't.

"Her illness likely resulted from failures in both lines of immunity. In her family, the second layer of defense compensated for genetic defects in the first," explains Dr. Casanova. "More broadly, it offers insight into how two people with the same infection, and even the same DNA, can have very different illnesses."

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Two Different Genetic Conditions Can Combine to Cause Severe ... - Genetic Engineering & Biotechnology News

Cancer Genetics India Partners with CSIR-Centre for Cellular and Molecular Biology to Organize the 2nd Annual Next … – P&T Community

Cancer Genetics India Partners with CSIR-Centre for Cellular and Molecular Biology to Organize the 2nd Annual Next ...
P&T Community
The objective of the conference is to provide recent updates and discuss the impact of diverse yet relevant applications of NGS and bioinformatics on key research areas such as agri-genomics, onco-genomics, microbiology, and human genetics. The opening ...

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Cancer Genetics India Partners with CSIR-Centre for Cellular and Molecular Biology to Organize the 2nd Annual Next ... - P&T Community

Evolution debate: Are humans continuing to evolve? | Genetic … – Genetic Literacy Project

Is natural selection still a major force in human evolution? As far back as high school biology, weve been taught to think the answer must be yes. But is it really true?

Charles Darwin published his groundbreaking On the Origin of Species back in 1859 around the same timethatanother Charles Charles Dickens was making a name for himself writing about social conditions in England. Dickens stories emerge from a period in which only 50 percent of British childrensurvived to adulthood a numbernot so different from animals in the jungle. In that vein, Darwin was right when he saidnatural selection was operating on humans full force.

Yet the forces that came into play in the 1850s are far different from those we experience today, prompting some high profile biologists to suggest thatour advanced medical capabilitieshave, in effect, blunted natural selection. In a 2013 Radio Times interview,science communicator David Attenborough describedit this way:

We are the only species to have put a halt to natural selection, of its own free will, as it were. We stopped natural selection as soon as we started being able to rear 9599 percent of our babies that are born.

Lowerchild mortalityrates arelargely due to vaccines, water purification, modern medical care and other technological advancements thathave allowed thehuman population toapproach the 7.5 billion mark.Why does this matter for natural selection? Its a simple matter that dying before producing offspring is the most effective filter for agene pool. Lesser traits are weeded out, while stronger ones are passed on.

Charles Darwin

And since natural selection is the most notable evolutionary force, there is a question about whether any significant human evolution will continue far into the future. Theres no clear answer yet, but compiling various proposals and hypotheses leads to a handful of future scenarios:

Scenario I: No major changes on the horizon

This is the boring scenario, so well get it out of the way first. While death before reproduction is an effective tool for culling out undesirable traits, there is a flip side to the equation.In the Stone Age, being less intelligent than ones peers would put an individual at higher risk of premature death by animal attack, for instance. But natural selection alsopromoted thedevelopment of valuable traits. Our smarter ancestorscould hunt better andfind more food leading to the development of farming and a host of other advancesthat enabled them to stay alive and reproduce.

But then a strange thing happened. Human society developed a sense of ethics and justice that led us to protect the weak. Today, we heal the sick. Infant mortality is low. Andchildren of low intelligence are put into special education classes. As a result,manyindividuals who would have been weeded out in the Stone Age are growing up to pass on their genes.

Finally, human populations are no longer genetically isolated. Along with natural selection, reproductive isolation such asfounder effects and population bottlenecksare major evolutionary processes that have shaped humanity. Buttoday, there is substantialgene flow as people from different continents frequently join to mate.The so-called races are blending, so humanity is evolving in that sense. But it is happening so quickly that within a couple of generations there wont be much left to blend. The planetary gene pool will be mixed about, leaving little room forhuman physical characteristics tochange in any significant way.

Scenario II: Natural selection continues

The main argument here is that currently were in a peaceful time, biologically speaking. Yet we could be on the verge of disease pandemics causing a Darwinian selective sieve.The jet-set age the very factor underlying the gene flow thats blending human races also can be a driving factor for the spread of a pandemic. The notorious influenza epidemic of 1918 came right at the end of World War I, claiming more lives than battlefield injuries.Today, we are much better at monitoring infectious disease threats the containment of the2014 Ebola virus outbreakin West Africa is one example but we also have a growing human population. Furthermore, there is some concern that antibiotic resistance could outpace the development of new anti-microbial drugs.

Alongside premature death, evolution is also powered by sexual selection. This means that although we support the survival of nearly every newborn to reproductive age, those who are better fit in terms of intelligence, ability to generate income, and physical attractiveness, could be more likely to attract mates who share those features.

Scenario III: Evolution shifts to off-world human colonies

In scenario I, we noted the absence ofreproductive isolation in modern times. Butthere is serious talk about sending humans to colonize other worlds. This could involve building freespace colonies (miniworlds constructed from asteroid material and shaped to rotate to provide gravity), floating cities in the atmosphere of Venus, or homes on the surface or below ground on various worlds. The most popular idea onepromoted by Elon Musk who hopes relocate thousands of humans within decades is to colonize Mars. Unless the colonists are placed completely underground, the Martian radiation environment could have a significant selective effect on human genetics.This is not because it would kill off colonists themselves, but it couldrender many of them sterile, or at least put significant selective pressure onreproductive cells.

Since we dont yet understandhow human embryos would fare in fractional gravity gravitational pull at the Martian surface is only 38 percent that of Earth theres a possibility of selective pressure in this regard too.

All of this is without assuming any isolation, because, of course humans would be arriving regularly from Earth, thereby adding to the Martian gene pool. On the other hand, should humans successfully colonize planets of other star systems, some biologists think that the reproductive isolation could be complete enough for notable evolutionary divergence away from Earthbound human populations.

Scenario IV: Transhumanism will drive evolution

Were already seeing humans using gene therapy to alter their genes. Transhumanists seek to change themselves through a range oftechnologies, includingrobotics, bionics, computer mind uploading,artificial wombs andgenome editing. These technologies are potentiallystrong enough to give humans the power to essentially take over their own evolution.

With a desire to improve both human performance and appearance,the transhumanist factor makes it hard to predict where this could go.Theartificial womb, for example, could remove constraints on fetal head circumference. Its not impossible to thinkwe could seehumans sporting heads like the science fiction alien, ET. The TV science fiction cloning thriller Orphan Black included a transhumanist character with a tail. Will there be people like that in real life? Or should we merely expect body additions that are practical, such as wings for colonists on low-gravity planets?

Importantly, the four scenarios outlined above are idealized. Each has its merits, and so all can occur. It could be thathuman evolution will continue,based on a combination of each of these scenarios.

David Warmflash is an astrobiologist, physician, and science writer. Follow @CosmicEvolution to read what he is saying on Twitter.

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Evolution debate: Are humans continuing to evolve? | Genetic ... - Genetic Literacy Project