Category Archives: Human Genetics

PUBLIC RELEASE DATE:

15-Sep-2014

Contact: Sharon Parmet sparmet@uic.edu 312-413-2695 University of Illinois at Chicago @uicnews

A cancer drug that has shown promise against Alzheimer's disease in mice and has begun early clinical trials has yielded perplexing results in a novel mouse model of AD that mimics the genetics and pathology of the human disease more closely than any other animal model.

The drug, bexarotene, was found to reduce levels of the neurotoxic protein amyloid-beta in experimental mice with late-stage Alzheimer's but to increase levels during early stages of disease.

The finding, by researchers at the University of Illinois at Chicago College of Medicine, was reported online in The Journal of Biological Chemistry by Mary Jo LaDu, who in 2012 developed a transgenic mouse that is now regarded as the best animal model of the human disease. That experimental mouse carries a human gene that confers on people a 15-fold elevated risk of developing AD, making it the most important known genetic risk factor for the disease.

Alzheimer's disease is the most common form of dementia, affecting more than five million Americans. The disease is progressive and eventually fatal. One of the hallmarks of AD is the appearance of dense plaques in the brain composed of clumps of amyloid-beta. But recent research indicates that smaller, soluble forms of amyloid-beta -- rather than the solid plaques -- are responsible for the death of nerve cells that leads to cognitive decline.

Humans carry a gene for a protein in cells called apolipoprotein E, which helps clear amyloid-beta from the brain by binding to it and breaking it down. LaDu's mice carry the most unfortunate variant in humans, called APOE4, or APOE3, which is neutral for AD risk.

"APOE4 is the greatest genetic risk factor for Alzheimer's disease," said LaDu, who is professor of anatomy and cell biology at UIC. "Our previous work showed that compared to APOE3, the apolipoprotein produced by the APOE4 gene does not bind well to amyloid-beta and so does not clear the neurotoxin from the brain."

Results of previous studies in mice of bexarotene's effect on AD have been mixed, and none of those studies were done in mice that carry a human APOE gene and also develop progressive, AD-like pathology. The UIC research presented in Copenhagen is the first to do so.

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Drug's effect on Alzheimer's may depend on severity of disease

A team of international scientists have found 10 genes with high levels of mutations which they believe could lead to intellectual disabilities including autism.

Professor of Human Genetics at the University of Adelaide, Dr Jozef Gecz, said the landmark study was essentially looking for patterns and genetic mutations.

"This work really maps a map of a human genome, starting from about 29,000 children with these disabilities, and about 20,000 controls," he said.

The team, including scientists from Australia, set out to find genetic mutations that lead to common intellectual disabilities, including autism and language problems.

"We look at the differences which are consistent, and of course, statistically, mathematically, significant," Professor Gecz said.

"And then the group at the University of Washington in Seattle actually interrogates a selected number of genes, in this case about 26, for next level possible mutations, to see whether there were differences."

The team found 10 genes with high levels of mutations, which they believe could lead to intellectual disabilities that present differently in each case.

"What it tells us is that these genes for autism, learning disability, and perhaps some of the psychiatric problems, or behavioural problems, are actually the same - they just may present in different individuals as an almost different disease," Professor Gecz said.

The findings could lead to better screening for learning disorders, and hopefully one day, treatment.

"That's what we're hoping for, that's really our aim in the long run," he said.

Originally posted here:
Scientists discover possible genetic link to autism, developmental disorders

A team of international scientists have found 10 genes with high levels of mutations which they believe could lead to intellectual disabilities including autism.

Professor of Human Genetics at the University of Adelaide, Dr Jozef Gecz, said the landmark study was essentially looking for patterns and genetic mutations.

"This work really maps a map of a human genome, starting from about 29,000 children with these disabilities, and about 20,000 controls," he said.

The team, including scientists from Australia, set out to find genetic mutations that lead to common intellectual disabilities, including autism and language problems.

"We look at the differences which are consistent, and of course, statistically, mathematically, significant," Professor Gecz said.

"And then the group at the University of Washington in Seattle actually interrogates a selected number of genes, in this case about 26, for next level possible mutations, to see whether there were differences."

The team found 10 genes with high levels of mutations, which they believe could lead to intellectual disabilities that present differently in each case.

"What it tells us is that these genes for autism, learning disability, and perhaps some of the psychiatric problems, or behavioural problems, are actually the same - they just may present in different individuals as an almost different disease," Professor Gecz said.

The findings could lead to better screening for learning disorders, and hopefully one day, treatment.

"That's what we're hoping for, that's really our aim in the long run," he said.

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Scientists discover genetic link to autism, developmental disorders

Google has a mission to organize the worlds information and make it accessible to everyone. The companyis mostly known for its search engine and the largest mobile operating system, but you may not be aware that Google is also heavily involved in the life sciences sector. Google has invested in a number of biotech and life science companies through its venture capital arm, Google Ventures.

Lift Labs

Yesterday, Google acquired Lift Labs. Lift Labs is a company that has built a high-tech device handle, which can stabilize what is being held using an attachable spoon or fork. This type of device benefits someone that has Parkinsons Disease or Essential tremor (ET). The Lift Labs team is joining the Life Sciences division at Google[x], which is a skunkworks lab led by Google co-founder Sergey Brin.

DNAnexus

DNAnexus is a DNA sequencing data software company that works with several genome sequencing organizations to better understand human genetics contributing to heart disease and aging.Last year, DNAnexus partnered with Baylor College of Medicine to process 3,751 whole human genomes and 10,771 exomes. DNAnexus uses Amazon Web Services cloud computing to sequence DNA data and store it.GoogleVentures invested in DNAnexus$15 million Series B and $15 million Series C round of funding.

Rani Therapeutics

Google Ventures participated in an undisclosed Series B round for Rani Therapeutics in August 2013. Rani Therapeutics is working on developing technology for the oral delivery of large drug molecules, which are delivered through injections.Rani Therapeutics is currently in pre-clinical studies and demonstrated over 50% bioavailability.

SynapDx

SynapDx is a company that provides laboratory testing services to physicians who work with children that have development disorders. The goal is to enable earlier detection of autism. In July 2013, Google participated in a $15.4 million round of funding for SynapDx.

One Medical Group

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Google Continues To Build Upon Its Life Sciences Ecosystem

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Newswise (New York, NY Sept. 11, 2014) A research team from the Icahn School of Medicine at Mount Sinai today received a $12 million grant from the National Institutes of Health to create a center that will screen massive data sets for new uses of existing drugs, and confirm them in human cell tests. The centers first mission will be to find FDA-approved drugs that reduce side effects when paired with hundreds of leading drugs against common, deadly diseases.

With advances in inexpensive computing power, and stored data collections becoming truly massive in the era of big data, researchers are just now able to design algorithms and models that pull previously unrecognized disease and drug treatment patterns from databases. These computational patterns are predictive, and researchers can validate them with experiments.

The goal of our new center is to detect changes made in human heart, liver and nerve cells as otherwise useful drugs cause side effects, and to find the combinations of existing drugs that reduce these side effects, said Ravi Iyengar, PhD, the Dorothy H. and Lewis Rosenstiel Professor in the Department of Pharmacology and Systems Therapeutics within the Icahn School of Medicine at Mount Sinai, and the lead investigator for the center grant.

Our center embodies a third way to reduce the side effects that limit the use of so many treatments, along with two traditional approaches: fine-tuning a drugs chemical structure or tailoring its use for each individuals genetics, he added.

Hidden Signatures The new grant will fund a Drug Toxicity Signature Generation Center at Mount Sinai as part the NIH Common Funds LINCS program, the Library of Integrated Network-based Cellular Signatures program. Each signature is a confirmed set of genetic and protein responses within a type of cell to a drug or drug combination.

The team will find such signatures by combining high-throughput experiments on cell responses to drugs with statistical analyses of side effect, gene and protein interaction databases. Interestingly, the team starts with stem cells and then converts them into the heart, liver and nerve cells used in the experiments. The new centers goal is to generate 2,000 signatures per year for further testing.

To anchor the signatures to human diseases and treatments, the team will search the U.S. Food and Drug Administrations Adverse Event Reporting System (FAERS) database to find cases where adding a second drug reduced the side effects associated with a commonly used primary treatment. FAERS has for decades collected such data from individuals, health professionals, drug companies and hospitals, and the millions of records on patients taking multiple drugs now in this public database are free and open to all researchers for analysis.

To translate FAERS-generated drug combinations that reduce toxicity into networks of mechanism-based cell response signatures, the team will then run the experimental results through other databases, including NIH databases of human DNA sequences and interactions between proteins. These networks will be filtered using sophisticated modeling techniques to increase the reliability of the signatures. The most promising signatures can then form the basis for targeted animal and human clinical studies on drug repurposing.

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Center to Find Drug Combinations that Reduce Side Effects

PUBLIC RELEASE DATE:

8-Sep-2014

Contact: Raeka Aiyar, Ph.D. raeka.aiyar@gmail.com 202-412-1120 Genetics Society of America

BETHESDA, MD The Genetics Society of America (GSA) and the yeast genetics research community are pleased to announce the winners of the GSA poster awards at the 2014 Yeast Genetics Meeting, which took place in Seattle, WA, July 29August 3, 2014. These awards were made to undergraduate, graduate, and postdoctoral scientists in recognition of the research they presented at the conference. Their projects examined the molecular basis of several processes governing the inheritance of traits using yeast as a model organism.

"The breadth and depth of the science presented at this meeting was impressive and inspiring," remarked Adam Fagen, PhD, GSA's executive director. "We are very proud to see these significant contributions to genetics research from these early career scientists and look forward to following their continued success throughout their careers."

Nearly 400 research posters were presented at the meeting, and the winning posters were selected by a panel of leading yeast genetics researchers. The winners of the 2014 Yeast Genetics Meeting GSA Poster Awards are as follows:

First Place: Joseph Sanchez (PhD student, University of Washington) Advisor: Dr. Bonny Brewer Title:: "The human Meier-Gorlin Syndrome mutation in ORC4 reduces replication initiation and rDNA copy number in Saccharomyces cerevisiae"

Second Place: Jinglin Xie (PhD student, University of Toronto) Advisor: Dr. Leah Cowen Title: "Dissecting the role of calcineurin and protein kinase C signalling in Hsp90-dependent caspofungin tolerance"

Third Place: Mark Rutledge (PhD student, Princeton University) Advisor: Dr. Jim Broach Title: "Chromatin organization in quiescent yeast"

Fourth Place: Erica Hildebrand (PhD student, Fred Hutchinson Research Center) Advisor: Dr. Susan Biggins Title: "Regulation of centromeric nucleosome localization by the E3 ubiquitin ligase Psh1"

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Seven researchers awarded for work presented at yeast genetics conference

MOUNTAIN VIEW -- In less than a decade, biotech company 23andMe has turned a refrigerator full of spit into one of the largest databases of personal genetics information in the world.

The brainchild of Anne Wojcicki, the wife of Google co-founder Sergey Brin, 23andMe began in 2006 as a startup mailing DNA testing kits to customers' front doors and asking them to mail back a vial of saliva. Eight years later, the company is the gatekeeper of a database of hundreds of thousands of people's DNA -- a self-described Google for genetics information.

"It's actually bigger than anything else I can think of, way bigger," said Lisa Brooks, program director of the National Human Genome Research Institute, part of the National Institutes of Health.

23andMe has begun selling that genetics data to researchers and pharmaceutical companies to conduct large-scale medical studies, making it an emerging leader in a largely underexplored, and at times hotly debated, area of scientific research. In the last couple of months, 23andMe has announced a joint effort with Pfizer to research inflammatory bowel disease, released findings from a joint study of more than 100,000 people that made new discoveries on Parkinson's disease, and received a $1.4 million grant from the NIH.

But as the guardian of a very lucrative set of data -- the accuracy of which has come under question -- critics say the Mountain View company also may pose a threat to consumers' privacy.

Most medical studies take months or years to solicit enough volunteers. But 23andMe puts the genetic information of 700,000 people at researchers' fingertips, allowing medical studies to be fast-tracked and new treatments to make their way into hospitals sooner, experts say, giving patients with chronic diseases a better quality of life.

"Instead of actually having to do clinical trials the old-fashioned way, we can enable researchers to get their answers instantaneously," Wojcicki said in an interview with this newspaper. "And they pay us for that."

But some experts worry 23andMe users have no idea where their own genetic information will end up. Because the company is relying on data sales to become profitable -- selling $99 home genetic testing kits doesn't pull in the big-dollar revenue -- 23andMe may disseminate consumers' genetic information not only to government agencies and research institutions, say legal and bioethics experts, but also to big pharmaceutical companies, marketers and advertisers.

"There are a lot of people who would want to use that data. There's a lot of money potentially locked up in that data," said Charles Seife, a professor at New York University and longtime science writer.

Indeed, in a 2013 interview with The New York Times, Wojcicki said, "I remember in the early days of Google, Larry (Page) would say, 'I just want the world's data on my laptop.' I feel the same way about health care. I want the world's data accessible."

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23andMe aims to be Google for genetic research

ABC Yvonne D'Arcy has lost her second appeal to overturn a court ruling on human gene patening.

The full bench of the Federal Court has thrown out an appeal against a ruling allowing private companies to patent human genes.

Last year breast cancer survivor Yvonne D'Arcy lodged an appeal after two bio-tech companies were granted the patent to a hereditary gene associated with an increased risk of cancer.

A court had previously ruled the patent applied because the genetic material needed to be extracted from the body to be tested.

Ms D'Arcy, from Brisbane, argued the genes existed in nature, so were discovered rather than invented.

She said she launched the case even though she herself did not have the BRCA1 gene.

Her case was against US-based company Myriad Genetics and Melbourne-based company Genetic Technologies.

The full bench of the Federal Court in Sydney has today dismissed her second appeal in the case, stating that "expressions such as the work of nature or the laws of nature are unhelpful when dealing with claims of a kind in this case".

"One may distinguish between discovery of a piece of abstract information without suggestion of a practical application to a useful end, on the one hand, and a useful result produced by doing something which has not been done by that procedure before, on the other," the five-judge panel said.

Ms D'Arcy's lawyer Rebecca Gilsenen from Maurice Blackburn said the judgment was disappointing.

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Court dismisses second appeal to overturn ruling on corporate human gene patenting

STORY HIGHLIGHTS

(CNN) -- A highly anticipated test of an experimental Ebola vaccine will begin this week at the National Institutes of Health, amid mounting anxiety about the spread of the deadly virus in West Africa.

After an expedited review by the U.S. Food and Drug Administration, researchers were given the green light to begin what's called a human safety trial, said Dr. Anthony Fauci, director of the National Institute of Allergy and Infectious Diseases (NIAID).

It will be the first test of this type of Ebola vaccine in humans.

The experimental vaccine, developed by the pharmaceutical company GlaxoSmithKline and the NIAID, will first be given to three healthy human volunteers to see if they suffer any adverse effects. If deemed safe, it will then be given to another small group of volunteers, aged 18 to 50, to see if it produces a strong immune response to the virus. All will be monitored closely for side effects.

Ebola outbreak in Africa

Ebola outbreak in Africa

Ebola outbreak in Africa

Ebola outbreak in Africa

Ebola outbreak in Africa

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Human vaccine trials to start

STORY HIGHLIGHTS

(CNN) -- A highly anticipated test of an experimental Ebola vaccine will begin this week at the National Institutes of Health, amid mounting anxiety about the spread of the deadly virus in West Africa.

After an expedited review by the U.S. Food and Drug Administration, researchers were given the green light to begin what's called a human safety trial, said Dr. Anthony Fauci, director of the National Institute of Allergy and Infectious Diseases (NIAID).

It will be the first test of this type of Ebola vaccine in humans.

The experimental vaccine, developed by the pharmaceutical company GlaxoSmithKline and the NIAID, will first be given to three healthy human volunteers to see if they suffer any adverse effects. If deemed safe, it will then be given to another small group of volunteers, aged 18 to 50, to see if it produces a strong immune response to the virus. All will be monitored closely for side effects.

Ebola outbreak in Africa

Ebola outbreak in Africa

Ebola outbreak in Africa

Ebola outbreak in Africa

Ebola outbreak in Africa

The rest is here:
Human trial of Ebola vaccine begins