Human Genetics Ch.15 slides
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Category Archives: Human Genetics
Human Longevity, Inc. Hires Industry Experts Barry Merriman, Ph.D., and Paul Mola, M.S. to Lead New Global Solutions …
LA JOLLA, Calif., Oct. 31, 2014 /PRNewswire/ -- Human Longevity, Inc. (HLI), a biological data-driven human health technology and cell therapy company, today announced the addition of Barry Merriman, Ph.D., as Vice President of Global Technology Assessmentand Paul Mola, M.S. as Head of Global Solutions. The two will work together in HLI's new Global Solutions Initiative to seek strategic business opportunities worldwide.
HLI's Global Solutions Initiative is aimed at business partnerships with a variety of customers including foreign governments, large national healthcare systems, and global disease or health-focused charities interested in undertaking population-scale genomic and personalized medicine initiatives. Dr. Merriman and Mr. Mola will engage with these entities to offer enterprise solutions, and services and business opportunities customized to empower and accelerate these projects. This includes access to HLI's comprehensive human biological database, coupled with the company's proprietary computational infrastructure and analytical software solutions.
"We are pleased to welcome Barry and Paul to the HLI team as they bring unique and varied scientific, technological and business expertise," said J. Craig Venter, PhD, HLI's Co-founder, Chairman, and Chief Executive Officer. "Their knowledge of the global genomics market, coupled with their strong scientific and technology backgrounds and ability to translate this experience into successful global partnerships will be invaluable to HLI."
Dr. Merriman commented, "My goal has always been to use science and technology to advance human health and longevity. HLI is unique in pursuing a complete and integrated approach to this, with the focus, resources and scale required for success, and with an endpoint of truly revolutionizing health care. I am very excited to work with leaders globally on ways for HLI to empower their efforts to improve health and solve disease in their populations."
Mr. Mola added, "HLI's focused investment to create an unmatched, end-to-end infrastructure for population scale projects will enable the most advanced clinical capabilities for solving some of the common diseases of aging. I am pleased to be joining HLI and am eager to help the company realize its mission of comprehensive integration of genomic advances, cellular therapeutics, and health information technology, to create an unprecedented knowledge base of patient biological data to effect health care change on a global scale."
Dr. Merriman comes to HLI most recently from Life Technologies (now a Division of Thermo Fisher Scientific, Inc.), where he was the Lead System Architect for Advanced DNA Sequencing Technology, and co-founder and CSO of the Enterprise Genomics Solutions group. In these roles he established and guided the company's overall strategy and portfolio in sequencing technology, and architected national scale genomics projects. Prior to this, Dr. Merriman was on the faculty of UCLA for 20 years, where he led interdisciplinary research efforts in human genetics, genomic technology, as well as math, physics and engineering. Dr. Merriman has a Ph.D. in Applied Math from The University of Chicago.
Paul Mola, M.S., MSEL, also comes to HLI from Life Technologies, where he was Head of Strategy and Chief of Staff for their Genetic Systems Division. There, he founded their Enterprise Genomics Solutions Group, which established the business model for supporting national scale translational genomics projects, including their first global flagship initiative, the Saudi Human Genome Project in Saudi Arabia. Mola previously served in product development and commercial capacities at Applied Biosystems and Roche Diagnostics. Mola earned an M.S. in Biotechnology from Cochin University of Science and Technology and a MSEL from the University of San Diego, School of Business.
About Human Longevity, Inc.HLI, a privately held company headquartered in San Diego, CA was founded in 2013 by pioneers in the fields of genomics and stem cell therapy. Using advances in genomic sequencing, the human microbiome, proteomics, informatics, computing, and cell therapy technologies, HLI is building the world's most comprehensive database of human genotypes and phenotypes as a basis for a variety of commercialization opportunities to help solve aging related disease and human biological decline. HLI will be licensing access to its database, and developing new diagnostics and therapeutics as part of their product offerings. For more information please visit, http://www.humanlongevity.com
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SOURCE Human Longevity, Inc.
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Wheelchair Judge (The Hidden #3) – Video
Wheelchair Judge (The Hidden #3)
What is The Hidden In the early 1950s human genetics experimentation was taking its first, tentative steps. Amongst many other black projects, a team of British scientists working at an Infinitum...
By: MrMad TeaHatter
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Trevor’s C4 Story (The Hidden #2) – Video
Trevor #39;s C4 Story (The Hidden #2)
What is The Hidden In the early 1950s human genetics experimentation was taking its first, tentative steps. Amongst many other black projects, a team of Brit...
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Geneticists tap human knockouts
Mikko Mattila - Travel, Finland, Helsinki/Alamy
Finland offers geneticists a rich seam of variation.
For decades, biologists have studied gene function by inactivating the gene in question in mice and other lab animals, and then observing how it affects the organism. Now researchers studying such gene knockouts have another, ideal model at their disposal: humans.
The approach does not involve genetically engineering mutant people in the lab, as is done in mice. Instead, researchers scan the genomes of thousands or millions of people, looking for naturally occurring mutations that inactivate a particular gene. By observing how these mutations affect health, researchers hope to gain insight into basic biology and to unearth new disease treatments.
Geneticists discussed several such large-scale efforts during a packed session at the American Society of Human Genetics meeting in San Diego, California, last week. So much of what we know is based on mice and rats, and not humans, says Daniel MacArthur, a genomicist at Massachusetts General Hospital in Boston, whose team identified around 150,000 naturally knocked-out genes by trawling the protein-coding portion of the genome, or exome, in more than 90,000 people. Now we can find people who actually have a particular gene inactivated or somehow modified, and that allows us to test hypotheses directly.
On average, every person carries mutations that inactivate at least one copy of 200 or so genes and both copies of around 20 genes. However, knockout mutations in any particular gene are rare, so very large populations are needed to study their effects. These loss of function mutations have long been implicated in certain debilitating diseases, such as cystic fibrosis. Most, however, seem to be harmless and some are even beneficial to the persons carrying them. These are people were not going to find in a clinic, but theyre still really informative in biology, says MacArthur.
His group and others had been focusing on genome data, but they are now also starting to mine patient-health records to determine the sometimes subtle effects of the mutations. In a study of more than 36,000Finnish people, published in July (E.T.Lim etal. PLoS Genet. 10, e1004494; 2014), MacArthur and his team discovered that people lacking a gene called LPA might be protected from heart disease, and that another knockout mutation, carried in one copy of a gene by up to 2.4% of Finns, may cause fetuses to miscarry if it is present in both copies.
Bing Yu of the University of Texas Health Science Center in Houston told the meeting how he and his collaborators had compared knockout mutations found in more than 1,300people with measurements of around 300molecules in their blood. The team found that mutations in one gene, called SLCO1B1, were linked to high levels of fatty acids, a known risk factor for heart failure. And a team from the Wellcome Trust Sanger Institute in Hinxton, UK, reported that 43 genes whose inactivation is lethal to mice were found to be inactivated in humans who are alive and apparently well.
Following up on such insights will help researchers to unpick the functions of the thousands of human genes about which little or nothing is known, say MacArthur and others. It might even aid drug discovery by identifying genes or biological pathways that could protect against disease.
The poster child for human-knockout efforts is a new class of drugs that block a gene known as PCSK9 (see Nature 496, 152155; 2013). The gene was discovered in French families with extremely high cholesterol levels in the early 2000s. But researchers soon found that people with rare mutations that inactivate one copy of PCSK9 have low cholesterol and rarely develop heart disease. The first PCSK9-blocking drugs should hit pharmacies next year, with manufacturers jostling for a share of a market that could reach US$25 billion in five years.
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Elizabeth Neufeld PhD Tribute 2014 – Video
Elizabeth Neufeld PhD Tribute 2014
UCLA Human Genetics Tribute to Elizabeth Neufeld PhD.
By: UCLA
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Team proposes benchmark to better replicate natural stem cell development in the laboratory environment
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In a study that will provide the foundation for scientists to better replicate natural stem cell development in an artificial environment, UCLA researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research led by Dr. Guoping Fan, professor of human genetics, have established a benchmarking standard to assess how culture conditions used to procure stem cells in the lab compare to those found in the human embryo.
The study was published online ahead of print in the journal Cell Stem Cell.
Pluripotent stem cells (PSCs) are cells that can transform into almost any cell in the human body. Scientists have long cultured PSCs in the laboratory (in vitro) using many different methods and under a variety of conditions. Though it has been known that culture techniques can affect what kind of cells PSCs eventually become, no "gold standard" has yet been established to help scientists determine how the artificial environment can better replicate that found in a natural state (in vivo).
Dr. Kevin Huang, postdoctoral fellow in the lab of Dr. Fan and a lead author of the study, analyzed data from multiple existing research studies conducted over the past year. These previously published studies used different culture methods newly developed in vitro in the hopes of coaxing human stem cells into a type of pluripotency that is in a primitive or ground-zero state.
Utilizing recently-published gene expression profiles of human preimplantation embryos as the benchmark to analyze the data, Dr. Huang and colleagues found that culture conditions do affect how genes are expressed in PSCs, and that the newer generation culture methods appear to better resemble those found in the natural environment of developing embryos. This work lays the foundation on the adoption of standardized protocol amongst the scientific community.
"By making an objective assessment of these different laboratory techniques, we found that some may have more of an edge over others in better replicating a natural state," said Dr. Huang. "When you have culture conditions that more consistently match a non-artificial environment, you have the potential for a much better reflection of what is going on in actual human development."
With these findings, Dr. Fan's lab hopes to encourage further investigation into other cell characteristics and molecular markers that determine the effectiveness of culture conditions on the proliferation and self-renewal of PSCs.
"We hope this work will help the research community to reach a consensus to quality-control human pluripotent stem cells," said Dr. Fan.
Explore further: Technique to make human embryonic stem cells more closely resemble true epiblast cells
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The cost of cognition: The blessing and curse of human brain complexity
By Shane Huntington
Neuroscientist Prof Seth Grant explains how genetics gave rise to the modern human brain, and how the very complexity that characterises our brains makes them vulnerable to neurological diseases that reveal themselves in mental illness.
SHANE HUNTINGTON
I'm Dr Shane Huntington. Thanks for joining us. Our ability to comprehend the environment around us, to adapt rapidly the changing conditions and to imaginatively express ourselves through art are all outstanding outcomes of an evolutionary process that has generated human brains of stunning complexity. But what is it that enables our grey matter to achieve such feats? Are these features solely the territory of human beings or do we share similar traits with other life forms? As with any mechanism, be it electrochemical or mechanical, added complexity leads to potential problems that are correspondingly complex to resolve. Diseases that affect the way we think and use our bodies are many and stem from a variety of causes but almost always situated in the brain. Today on Up Close we're joined by neuroscientist Professor Seth Grant to explore how the evolution of synapses has given vertebrates like us the ability to think and learn whilst also making us susceptible to mental illness and diseases of the brain. Seth Grant is Professor Molecular Neuroscience in the Centre for Neuroregeneration at the University of Edinburgh. He is in Melbourne to speak at the 2014 Melbourne Brain Symposium, an event jointly organised by the Melbourne Neuroscience Institute and the Florey Institute of Neuroscience and Mental Health. He is also delivering the annual Kenneth Myer Public Lecture as a guest of the Florey Institute. Welcome to Up Close, Seth.
SETH GRANT
Yes, thank you, Shane.
SHANE HUNTINGTON
I think we'll start with just the role that synapses actually play in the brain. Can you give us a description of where they fit in?
SETH GRANT
Well most people will realise of course that all organs in the body are made from cells and there's very large numbers of them but the nerve cells in the brain are very unusual compared to other cells in other parts of the body because they have specialised junctions between them which are called synapses. Now not only do they have junctions between them but the nerve cells in the brain have very long extensions or fibres which have names like axons and dendrites. Those long axons and dendrites have on them about 10,000 synapses per cell which means then that every nerve cell in the brain can contact as many as 10,000 other nerve cells. Just contrast that with a liver cell for example. A liver cell may only touch another 10 or 20 cells so nerve cells and the synapses are what make the brain different to all other organs.
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The cost of cognition: The blessing and curse of human brain complexity
Rare Mutation Detection w/ Digital PCR – ASHG 2014 – Video
Rare Mutation Detection w/ Digital PCR - ASHG 2014
Learn more at http://www.lifetechnologies.com/us/en/home/life-science/pcr/digital-pcr/rare-mutation-analysis.html.html Among several technologies on display at the American Society for Human...
By: Life Technologies
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Welcome to ASHG 2014: Inside the Life Technologies Booth – Video
Welcome to ASHG 2014: Inside the Life Technologies Booth
Thousands packed the San Diego Convention Center this week to attend the 2014 American Society of Human Genetics annual meeting. But alas, countless others were not able to make the trip out...
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Welcome to ASHG 2014: Inside the Life Technologies Booth - Video
UCLA Scientists Propose Benchmark to Better Replicate Natural Stem Cell Development in the Laboratory Environment
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Newswise In a study that will provide the foundation for scientists to better replicate natural stem cell development in an artificial environment, UCLA researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research led by Dr. Guoping Fan, professor of human genetics, have established a benchmarking standard to assess how culture conditions used to procure stem cells in the lab compare to those found in the human embryo.
The study was published online ahead of print in the journal Cell Stem Cell.
Pluripotent stem cells (PSCs) are cells that can transform into almost any cell in the human body. Scientists have long cultured PSCs in the laboratory (in vitro) using many different methods and under a variety of conditions. Though it has been known that culture techniques can affect what kind of cells PSCs eventually become, no "gold standard" has yet been established to help scientists determine how the artificial environment can better replicate that found in a natural state (in vivo).
Dr. Kevin Huang, postdoctoral fellow in the lab of Dr. Fan and a lead author of the study, analyzed data from multiple existing research studies conducted over the past year. These previously published studies used different culture methods newly developed in vitro in the hopes of coaxing human stem cells into a type of pluripotency that is in a primitive or ground-zero state.
Utilizing recently-published gene expression profiles of human preimplantation embryos as the benchmark to analyze the data, Dr. Huang and colleagues found that culture conditions do affect how genes are expressed in PSCs, and that the newer generation culture methods appear to better resemble those found in the natural environment of developing embryos. This work lays the foundation on the adoption of standardized protocol amongst the scientific community.
"By making an objective assessment of these different laboratory techniques, we found that some may have more of an edge over others in better replicating a natural state," said Dr. Huang. "When you have culture conditions that more consistently match a non-artificial environment, you have the potential for a much better reflection of what is going on in actual human development."
With these findings, Dr. Fan's lab hopes to encourage further investigation into other cell characteristics and molecular markers that determine the effectiveness of culture conditions on the proliferation and self-renewal of PSCs.
"We hope this work will help the research community to reach a consensus to quality-control human pluripotent stem cells," said Dr. Fan.
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Thigh Bone DNA Helps Narrow Down When Humans, Neanderthals First Intermingled
Chuck Bednar for redOrbit.com Your Universe Online
Genetic analysis of DNA obtained from a 45,000-year-old modern human thigh bone has allowed researchers to narrow down the time frame in which mating first introduced Neanderthal genes into the human gene pool.
An international team of experts including scientists from the Max Planck Institute for Evolutionary Anthropology, the Key Laboratory of Vertebrate Evolution and Human Origins of Chinese Academy of Sciences and Harvard Medical School in Boston report in the latest edition of the journal Nature that interspecies mating first took place between 50,000 and 60,000 years ago.
The thigh bone studied by the genetics team was discovered in Siberia, and Dan Vergano of National Geographic noted that it is the oldest modern human bone discovered that far outside of Africa and the Middle East nearly twice the age of the next oldest, a 24,000-year-old fossil belonging to a boy that died elsewhere in the northern Asian region and whose genome was sequenced in 2013.
Study author and genetics expert Janet Kelso of the Max Planck Institute told Vergano that it was really exciting to have a really high-quality genome sequence of an early modern human that is this old, and that by using DNA from the bone to analyze the mans genetic map, they were able to find that he had roughly 2.3 percent Neanderthal genes. By comparison, modern men and women typically have about 2.1 percent Neanderthal DNA.
After its discovery, the bone reportedly changed hands multiple times before reaching the Max Planck Institute. Once there, the samples remarkably well preserved DNA enabled researchers to extract a genome sequence that Harvard University said was significantly higher in quality than most genome sequences of present-day people generated for analysis of disease risk.
Carbon dating and molecular analysis had revealed the sample belonged to an individual who lived 45,000 years ago and lived on a diet that included plants or plant eaters, as well as fish or other aquatic life forms. The genome sequence further revealed the individual, who has been identified as the Ust-Ishim man, was a modern human and, more specifically, a member of one of the most ancient non-African populations.
The morphology of the bone suggests that it is an early modern human; that is an individual related to populations that are the direct ancestors of people alive today anthropologist Bence Viola, who analyzed the bone, confirmed in a statement Wednesday. This individual is one of the oldest modern humans found outside the Middle East and Africa.
The sequenced genome was also compared to those of present-day humans of over 50 different populations, and it was found that the Ust-Ishim bone originated from a man who is more closely related to present-day non-Africans than to Africans. For that reason, the researchers conclude that he is among the first people to have left Africa and traveled to Eurasia. In addition, his genome was found to be somewhat equally related to both East Asians and to those that lived in Europe during the Stone Age.
The population to which the Ust-Ishim individual belonged may have split from the ancestors of present-day West Eurasian and East Eurasian populations before, or at about the same time, when these two first split from each other, explained Svante Pbo of the Max Planck Institute. It is very satisfying that we now have a good genome not only from Neandertals and Denisovans, but also from a very early modern human.
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Thigh Bone DNA Helps Narrow Down When Humans, Neanderthals First Intermingled
Up Close: PGM Dx at ASHG 2014 – Video
Up Close: PGM Dx at ASHG 2014
Learn more about the PGM Dx: https://www.lifetechnologies.com/us/en/home/clinical/molecular-diagnostics/diagnostic-instruments/ion-pgm-dx.html Since being previewed at the European Society...
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Human safety trials begin on second experimental Ebola vaccine
The National Institutes of Health announced Wednesday that human testing has begun on a second experimental Ebola vaccine, VSV-ZEBOV.
The vaccine, which was developed by the Public Health Agency of Canada, uses a genetically altered version of vesicular stomatitis virus, which usually affects livestock and causes mild illness in humans.
In tests with monkeys, the vaccine was shown to produce Ebola virus antibodies. Researchers say this was accomplished by altering VSV so that it contained the same protein that Ebola uses to invade cells.
The vaccine is being tested at the National Institute of Allergy and Infectious Diseases and the Walter Reed Army Institute of Research, according to the NIH. One set of tests will involve a two-shot "prime-boost" strategy, while the other will test a single shot technique.
The vaccine has been licensed to Newlink Genetics Corporation of Ames, Iowa.
In September, phase one safety trials began on another vaccine candidate developed by the NIAID and the pharmaceutical company Glaxosmithkline.
The NIH said that initial safety and immune response results for the NIAID-GSK vaccine are expected by the end of this year.
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Human safety trials begin on second experimental Ebola vaccine
Children's genes affect their mothers' risk of rheumatoid arthritis
PUBLIC RELEASE DATE:
19-Oct-2014
Contact: Nalini Padmanabhan press@ashg.org 301-634-7346 American Society of Human Genetics @GeneticsSociety
BETHESDA, MD A child's genetic makeup may contribute to his or her mother's risk of rheumatoid arthritis, possibly explaining why women are at higher risk of developing the disease than men. This research will be presented Tuesday, October 21, at the American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego.
Rheumatoid arthritis, a painful inflammatory condition that primarily affects the joints, has been tied to a variety of genetic and environmental factors, including lifestyle factors and previous infections. Women are three times more likely to develop rheumatoid arthritis than men, with peak rates among women in their 40s and 50s. Certain versions of the immune system gene HLA-DRB1, known collectively as the shared epitope alleles, are associated with the condition. HLA genes are best known for their involvement in the immune system's response to infection and in transplant medicine for differentiating between one's own cells and those that are foreign.
The female predilection of rheumatoid arthritis strongly suggests that factors involved in pregnancy are involved, said Giovanna Cruz, MS, graduate student at the University of California, Berkeley, and first author on the new study.
"During pregnancy, you'll find a small number of fetal cells circulating around the mother's body, and it seems that in some women, they persist as long as several decades. Women with rheumatoid arthritis are more likely to have this persistence of fetal cells, known as fetal microchimerism, than women without the condition, suggesting that it is a potential risk factor for the development of rheumatoid arthritis," Ms. Cruz said. "Why it happens, we don't know, but we suspect HLA genes and their activity may be involved," she explained.
The researchers analyzed the genes of women with and without the shared epitope or other forms of HLA genes associated with risk of rheumatoid arthritis, and their children. They found that having children with these high-risk alleles inherited from the children's father increased the women's risk of rheumatoid arthritis, even after accounting for differences among the mothers' genes. These results showed that beyond a woman's own genetic risk of rheumatoid arthritis, there is additional risk conferred by carrying and bearing children with certain high-risk alleles.
"We don't yet understand how the shared epitope and other HLA alleles influence rheumatoid arthritis risk, but one possibility is that interactions between the proteins these genes encode may stimulate the autoimmune symptoms of the disease," Ms. Cruz said. In other words, a woman's immune system may detect proteins produced by the fetus and mistakenly tag lingering fetal cells as a threat, causing an immune reaction and symptoms of rheumatoid arthritis.
In addition to explaining why women are at increased risk of rheumatoid arthritis, the findings may lead to new ways of assessing a woman's risk of disease depending on whether her children or partner carries high-risk versions of genes, an area of research that Ms. Cruz and her colleagues are planning to explore. Other future research includes genetically analyzing multiple generations of rheumatoid arthritis cases, including mothers of people with the disease, and further exploring the role of HLA-encoded proteins and microchimerism.
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Children's genes affect their mothers' risk of rheumatoid arthritis
African american DNA , Oldest known to date , the evidence – Video
African american DNA , Oldest known to date , the evidence
http://news.discovery.com/human/genetics/african-american-earliest-man-130307.htm http://www.vdubboogie.wordpress.com.
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Gene duplications associated with autism evolved recently in human history
PUBLIC RELEASE DATE:
18-Oct-2014
Contact: Nalini Padmanabhan press@ashg.org 301-634-7346 American Society of Human Genetics @GeneticsSociety
BETHESDA, MD Human geneticists have discovered that a region of the genome associated with autism contains genetic variation that evolved in the last 250,000 years, after the divergence of humans from ancient hominids, and likely plays an important role in disease. Their findings were presented today at the American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego.
Researchers at the University of Washington analyzed the genomes of 2,551 humans, 86 apes, one Neanderthal, and one Denisovan. They closely examined a region of human chromosome 16 known as 16p11.2, a region prone to genetic changes in which segments of DNA are deleted or duplicated, one of the most common genetic causes of autism, schizophrenia, and other conditions. The geneticists found that certain segments of DNA in this region are repeated a variable number of times in different people and may also be associated with disease.
To trace the origins of this variation, the researchers collaborated with colleagues at the University of Lausanne and the University of Bari to sequence and analyze corresponding regions of ape genomes.
"When we compared the genomes of apes and humans, we found that the humans had evolved complex structural changes at 16p11.2 associated with deletions and duplications that often result in autism. The findings suggest that these changes emerged relatively recently and are unique to humans," explained study author Xander Nuttle, BS, BSE, a graduate student in the Department of Genome Sciences at the University of Washington School of Medicine.
While this genetic variation has likely made humans more vulnerable to disease, the scientists believe it also contributed to the formation of novel genes. One such gene is BOLA2, a gene thought to be important in cell reproduction. The researchers found that while apes, Neanderthals, and Denisovans had only two copies of BOLA2, all modern humans have between three and 14 copies, with an average of six. The team is currently studying the function of BOLA2 to understand the potential significance of additional copies for human evolution.
"Another question we are exploring is why people with the same duplications and deletions at 16p11.2 vary in disease severity," Mr. Nuttle said. "Some people are healthy or have mild illness, while others are severely affected and have multiple clinical diagnoses."
One hypothesis is that differences among people in how the region is organized, such as the number of copies of genes like BOLA2 present and the precise locations at which deletions and duplications start and end, contribute to this variability. To examine this possibility, Mr. Nuttle and colleagues are analyzing DNA and medical data from over 125 individuals with deletions or duplications at 16p11.2.
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Gene duplications associated with autism evolved recently in human history
How a Wiki Is Keeping Direct-to-Consumer Genetics Alive
When Meg DeBoe decided to tap her Christmas fund to order a $99 consumer DNA test from 23andMe last year, she was disappointed: it arrived with no information on what her genes said about her chance of developing Alzheimers and heart disease. The report only delved into her genetic genealogy, possible relatives, and ethnic roots.
Thats because just a month earlier, in November 2013, the Food and Drug Administration had cracked down on 23andMe. The direct-to-consumer gene testing companys popular DNA health reports and slick TV ads were illegal, it said, since theyd never been cleared by the agency.
But DeBoe, a mommy blogger and author of childrens books, found a way to get the health information she wanted anyway. Using a low-budget Web service called Promethease, she paid $5 to upload her raw 23andMe data. Within a few minutes she was looking into a report with entries dividing her genes into Bad news and Good news.
As tens of thousands of others seek similar information about their genetic disposition, they are loading their DNA data into several little-known websites like Promethease that have become, by default, the largest purveyors of consumer genetic health services in the United Statesand the next possible targets for nervous regulators.
After the FDA crackdown, consumers are trading information on where to learn about their genes. Dont let the man stop you, said one.
Promethease was created by a tiny, two-man company run as a side project by Greg Lennon, a geneticist based in Maryland, and Mike Cariaso, a computer programmer. It works by comparing a persons DNA data with entries in SNPedia, a sprawling public wiki on human genetics that the pair created eight years ago and run with the help of a few dozen volunteer editors. Lennon says Promethease is being used to build as many as 500 gene reports a day.
Many people are arriving from directly from 23andMe. After its health reports were blocked, consumers complained angrily about the FDA on the companys Facebook page, where they also uploaded links to the Promethease website, calling it a workaround, a way to get exhaustive medical info in reports that are similar, but not as pretty. The mood was one of civil disobedience. Dont let the man stop you from getting genotyped, wrote one.
The FDA is being cautious with personal genomics because although DNA data is easy to gather, its medical meaning is less certain.
Consumer DNA tests determine which common versions of the 23,000 human genes make up your individual genotype. As science links these variants to disease risk, the idea has been that genotypes could predict your chance of getting cancer or heart disease, or losing your eyesight. But predicting risk is tricky. Most genes dont say anything decisive about you. And if they do, you might well wish for a doctor at your side when you find out. I dont believe that this kind of risk assessment is mature enough to be a consumer product yet, says David Mittelman, chief scientific officer of Gene by Gene, a genetic laboratory that performs tests.
In barring 23andMes health reports, the FDA also cited the danger that erroneous interpretations of gene data could lead someone to seek out unnecessary surgery or take a drug overdose. Critics of the decision said it had more to do with questions about whether consumers should have the right to get genetic facts without going through a doctor. Its an almost philosophical issue about how medicine is going to be delivered, says Stuart Kim, a professor at Stanford University who helped developed a DNA interpretation site called Interpretome as part of a class he teaches on genetics. Is it going to be concentrated by medical associations, or out there on the Internet so people can interact?
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Scientists identify mutation associated with cleft palate in humans and dogs
PUBLIC RELEASE DATE:
19-Oct-2014
Contact: Nalini Padmanabhan press@ashg.org 301-634-7346 American Society of Human Genetics @GeneticsSociety
BETHESDA, MD Scientists studying birth defects in humans and purebred dogs have identified an association between cleft lip and cleft palate conditions that occur when the lip and mouth fail to form properly during pregnancy and a mutation in the ADAMTS20 gene. Their findings were presented today at the American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego.
"These results have potential implications for both human and animal health, by improving our understanding of what causes these birth defects in both species," said Zena Wolf, BS, a graduate student at the University of California, Davis School of Veterinary Medicine.
In both humans and dogs, cleft lip and cleft palate occur naturally with varying degrees of severity, and can be caused by various genetic and environmental factors. Since purebred dogs breed only with each other, there is less genetic variation to consider, making cleft lip and cleft palate easier to understand in these populations, Ms. Wolf explained.
From previous studies, the researchers knew that a mutation in the dog genes DLX5 and DLX6, which are involved in face and skull development, explained 12 of 22 cases of cleft palate. However, a mutation in the corresponding human genes accounted for just one of 30 cases in the study sample.
To search for additional genes that may be involved, Ms. Wolf and colleagues performed a genome-wide association study (GWAS), a study that compares the genomes of dogs with cleft lip and cleft palate to those of dogs without it. They found that the conditions were associated with a mutation in the gene ADAMTS20 that caused the protein it encodes to be shortened by 75 percent. Previous studies had shown that ADAMTS20 is involved in the development and shaping of the palate, but no specific mutations that occur in nature had been identified. A similar GWAS in people with cleft lip and cleft palate suggested that mutations in the human version of the ADAMTS20 gene may also increase the risk of these conditions.
"Cleft lip and cleft palate are complex conditions in people, and the canine model offers a simpler approach to study them," Ms. Wolf said. "Not only does this research help people, but it helps dogs, too," she added.
The study was conducted by scientists at the University of California, Davis, along with collaborators at the University of Pittsburgh, the University of Iowa, and the University of Sydney.
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Scientists identify mutation associated with cleft palate in humans and dogs
Clinical Laboratory Services Market By Test (Human & Tumor Genetics, Clinical Chemistry), By Service Provider …
San Francisco, California (PRWEB) October 14, 2014
Global clinical laboratory services market is expected to reach USD 261.42 billion by 2020, according to a new study by Grand View Research, Inc. The demand for early diagnosis in order to render effective therapeutic interventions is on a constant rise. Wide range of diagnostic tests encompassed in the clinical laboratory services segment coupled with increasing incidence rates of infectious and chronic diseases is expected to drive market growth during the forecast period. In addition, presence of untapped growth opportunities and the rapidly improving healthcare infrastructure in emerging markets such as China, India and Brazil are expected to offer growth opportunities for industry participants.
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Clinical chemistry based services dominated the overall market, accounting for over 45.0% of the revenue share in 2013, owing to the fact that these tests are a part of the initial disease diagnostic process and thus are carried out in large volumes.
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Further key findings from the study suggest:
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For the purpose of this study, Grand View Research has segmented the global clinical laboratory services market on the basis of test type, service provider and region:
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