Genomics

Genetics pioneer to step down from federal research institute

John Carroll — Tue, 03 Jun 2008 09:26:54 -0400

For the past 15 years Dr. Francis Collins has been a leader of the genetics revolution in the U.S. As head of the National Human Genome Research Institute since 1993, he helped guide the Human Genome Project and fostered an outpouring of new research into the way that genetics influences disease. Last week he announced that he would be stepping down from the post, just days after President Bush signed new legislation into law that forbids insurers and employers from using genetic information to guide coverage decisions.

Collins plans to pen a new book on the impact personal genomics will play in medicine in the years to come, following a book he published two years ago chronicling his life as a leading scientist and born-again Christian. Collins conceded that budgetary constrictions have been troublesome, but said his decision to leave was not prompted by any disagreements over policy or planning. Alan E. Guttmacher, deputy director, will take the helm until a permanent replacement is found.

- read the story from the Washington Post

NIH doles out $438M for daring research

Tue, 11 Sep 2007 06:59:59 -0400

The NIH is opening its purse to fund $438 million in new research projects that have the potential to make groundbreaking progress against some of the world's toughest medical challenges. Dr. Alan Krensky, director of the NIH office of portfolio analysis and strategic initiatives, told the Boston Globe that they were bankrolling "knock-your-socks-off" science projects. Nine teams will each get $21 million to $25 million to tackle such projects as growing new heart valves and revolutionizing the drug discovery process with swift advancements in genomics. NIH is shucking its standard operating procedure of offering individual researchers six-figure grants, budgeting a small portion of its money for these big-picture research projects that could offer major advancements in medicine. The new strategy is being developed at a time of growing concern that the NIH is not able to fund all the projects deserving of federal support.

- check out the report from The Boston Globe

ALSO: A team of researchers at the University of California, Davis, School of Medicine and the M.I.N.D. Institute, in collaboration with four allied institutions, has been awarded a five-year, $21.8 million Interdisciplinary Research Consortium grant from the National Institutes of Heath, the largest single federal award to date in support of research related to the Fragile X (FMR1) gene. Release

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Pathway discovered to influence fat accumulation

Mon, 02 Jul 2007 20:01:39 -0400

In a remarkable breakthrough for weight research, scientists have reported the discovery of a neurochemical pathway that stimulates the accumulation of fat in animals laboring under chronically high stress and exposed to a diet of junk food. Inhibiting the pathway prevented weight gain in mice but selectively spurring the mechanism allowed for the strategic accumulation of weight--potentially opening a new pathway to mold larger breasts, firmer buttocks and younger faces.

Zofia Zukowska of Georgetown University's Department of Physiology and Biophysics led the project, which involved an international team of scientists. Researchers say their work may show that a confluence of high rates of stress and easy access to junk food has led to an epidemic of obesity. Mice in the study were left standing in cold water or exposed to an alpha mouse for part of each day and then offered either a junk food diet or standard feed. The mice receiving high fat diets swiftly added weight. An examination of their fat tissue revealed neuropeptide Y (NPY), a chemical messenger that is produced by the body's nerves. They also had extraordinarily high levels of the far higher levels of neuropeptide Y2R receptor, a molecular partner NPY needs in order to work.

- see the release on their work
- read the article from The Washington Post

ALSO: Mayo Clinic researchers have that the absence of the CD38 gene prevented mice on high-fat diets from gaining weight. Report

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Venter's latest revelation could save the world

Mon, 02 Jul 2007 20:01:39 -0400

The Times' Anjana Ahuja takes J. Craig Venter's latest revelation and breaks it down to some easily understood concepts. Venter is focused on creating synthetic life, taking 400 or so genes and making a microbe of his own design. Built properly, the microbe could be used to create a new generation of clean fuels. And his patent on the work, if granted, would give Venter control of those products and the vast riches they would produce. But the basic research could also point the way to a new generation of bioterror agents, which could have a dramatically different effect on the planet. Still, the work on life's simplest forms does also highlight the extraordinary collection of 30,000 genes that goes into creating a human.

- see the release on the work
- here's the column from The Times

Gene combo dramatically increases risk of Alzheimer's

Mon, 11 Jun 2007 20:01:39 -0400

New work at the Translational Genomics Research Institute in Phoenix has revealed that a copy of the APOE4 gene variant quadruples a person's chances of developing late-onset Alzheimer's. Couple that with the GAB2 variant and the chance of developing the disease rises to 16 times the average risk factor. The scientists believe that the combination of the two spurs the development of one of the proteins that afflicts the brains of people with Alzheimer's. In their work, the scientists screened the DNA of 1400 people, half of whom had the disease.

- here's the report from China Post

ALSO: The latest worldwide estimate of Alzheimer's prevalence shows that 26.6 million people were living with the disease in 2006. That number is expected to quadruple by 2050. Report

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New drug controls body's signals for eating

Mon, 11 Jun 2007 20:01:39 -0400

A research team at Hebrew University on Jerusalem has developed a drug that mimics the activity of the hormone aMSH, which spurs the feeling of fullness. The hormone binds to a receptor in the brain that sends out the signal to the body that it is full. The researchers, led by a grad student, developed a synthetic peptide called BL-3020 that was able to enter the bloodstream, make its way to the receptor and emit the 'full' signal. Testing the therapy on mice over 24 hours, researchers noted a reduction in eating. Over a 12-day period, the mice dropped to a weight that was 40 percent below normal. Israel's Bioline RX bought the development rights.

- read the report from Scenta

ALSO: A new study indicates that mutations in the gene known as brain specific homeobox transcription factor might explain why some people fidget less and put on more weight. German engineers developed a mouse model without the Bsx factor and found they had accumulated more weight than normal mice over a period of three months. Report

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Gene therapy approach may work against ED

Mon, 04 Jun 2007 20:01:39 -0400

Tackling the problem of erectile dysfunction which occurs as a result of surgery, researchers at the University of Pittsburgh say they were able to cure the condition in rats using gene therapy to stimulate the growth of a crucial nerve. Nerve damage during bladder surgery or the removal of the prostate can cause ED, which cannot be treated with any currently available therapies. But the researchers were able to cure it by treating the nerves with nerve growth factors. The genes are delivered right to the site of the injury in modified herpes virus that is neutralized through the removal of genetic material. Other gene therapy trials involving ED are also underway.

- here's the report from The Guardian

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Gene therapy study relieves pain in RA mice model

Mon, 28 May 2007 20:01:39 -0400

Scientists have successfully tested a new gene therapy approach to treating pain and other symptoms linked to rheumatoid arthritis. They took an adeno-associated virus--a standard delivery tool in gene therapy--to transport the mu-opioid receptor gene to the joints of afflicted mice. Those receptors facilitate the entry of the body's natural painkillers into cells and the more of them a patient has around affected joints the more responsive they are to the natural approach. Dr. Stephanos Kyrkanides of the University of Rochester Medical Center in New York said that the method eased the pain in the mice and also treated the pathology. The researchers used the actual human gene in the study, leading them to believe that there is a high likelihood of success when the same approach is tried on humans.

- read the report on the gene therapy work from Scientific American

ALSO: Another research team has used gene therapy to cure hereditary blindness caused by a genetic impairment. Report

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First gene therapy for eye disease may offer a cure

Mon, 21 May 2007 20:01:39 -0400

Robin Ali, a professor of human molecular genetics at University College London, is leading the world's first human trial of a gene therapy for an eye condition. A total of 12 patients with Leber's Congenital Amaurocis are being treated in the trial. Their photoreceptor cells misfunction due to a faulty RPE65 gene. That is an extremely rare condition, but investigators say that if this trial works they'll be able to use a similar approach to treating about 100 single-gene sight disorders involving far larger numbers of patients. There are now a number of gene therapy studies which are moving from the lab into the clinic. That's a critical milestone for a field that has been regularly plagued by safety concerns. Now Ali and other researchers say they're on their way to putting those old fears into the past as they look forward to new therapies that offer cures.

- here's the report on the project from Time

Venture group targets tech transfer deals in Texas

Mon, 14 May 2007 20:01:39 -0400

Emergent Technologies garnered $27.1 million in venture capital to license biotech research programs from the University of Texas. ETI has been operating in Texas for several years now. It specializes in identifying promising biotech research, licensing the technology and then spawning small start-up companies to advance the work. The company typically makes relatively small investments in each start-up and looks to larger pharma companies to come in and partner with them, providing much of the money necessary to grow the companies. Texas has lagged behind a large number of states that have seen their university research explode in recent years. The University of Florida system, meanwhile, has been one of the most active in the licensing arena.

- here's the report from the Austin American-Statesman

ALSO: A collaborative of scientists from South Florida and Latin America have begun seeking partners to advance their work in genomics. Report

Blocking enzyme effective in preventing breast cancer

Mon, 14 May 2007 20:01:39 -0400

Scientists at Canada's McGill University say blocking the enzyme PTP1B delayed cancer in mice that also respond to Herceptin. They add development of new drugs that can block the enzyme could well boost the effectiveness of other therapies in humans. The team concentrated on a strain of mice that develops breast cancer as the result of over-activity in the Her-2 gene, a trigger in about one quarter of all breast cancer cases and a biomarker for Heceptin. In addition to delaying the onset of breast tumors, researchers said deleting PTP1B also prevented secondary lung tumors.They noted that in animal studies, the benefits of treatment lasted two months after two weeks of therapy.

- here's the report on the research from the BBC

Researchers explore uses of a genetic report card

Mon, 07 May 2007 20:01:39 -0400

Researchers are recruiting 1,000 healthy members of the Health Alliance Plan in Michigan to examine them for 15 common genetic variations that raise their risk for disease. The scientists want to know if a genetic report card can prompt healthy people to take action to avoid a disease if they are at a higher risk. Participants will get counseling and receive the report in the mail, though it will not become part of their medical record.

- read the USA Today report

ALSO: Researchers have identified a genetic trait common in half of all Caucasians that raises their risk of heart disease. One copy of a gene mutation of Chromosome 9 raised the risk of heart disease by 15 percent to 20 percent while two copies raised the risk by 60 percent. Report

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Drug switches on fat-burning gene in mice

Mon, 30 Apr 2007 20:01:39 -0400

Ronald M. Evans, an investigator at The Salk Institute in San Diego, has developed a drug that switches on the PPAR-d gene in mice, protecting them against weight gain from high-calorie and high-fat diets. The drug--which mimics fat--triggers their metabolisms and generates a physical response similar to exercising. After treatment, the mice had lower levels of fatty acids, triglyceride and sugar levels. These mice also exhibited much greater stamina, allowing them to exercise twice as long as normal. The response earned the rodents in the study the name of "marathon mice." The PPAR-d target is already the focus of several research programs by pharmaceutical companies. While the research obviously has far to go, Evans is quick to point out that a successful therapy would still work best in combination with diet and exercise. It would also have a dramatic impact on epidemic rates of obesity, heart disease and diabetes.

- read the HealthDay News report on the research work

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New agent disables genetic diseases

Mon, 30 Apr 2007 20:01:39 -0400

A study to appear in the June 2007 issue of The FASEB Journal describes a new agent, called "Zorro-LNA," which has the potential to stop genetic disorders in their tracks. In the study, researchers from the Karolinska Institute in Stockholm, Sweden, describe how they developed Zorro-LNA to bind with both strands of a gene's DNA simultaneously, effectively disabling that gene. This development has clinical implications for virtually every human condition caused by or worsened by dominant defective genes. Examples include: Huntington's disease, familial high cholesterol, polycystic kidney disease, some instances of glaucoma and colorectal cancer, and neurofibromatosis, among others.

"Zorro-LNA is a new substance that targets DNA and turns off genes," said co-author Edvard Smith of the Karolinska Institute. "It has the potential of becoming a new drug for the treatment of human genetic disease."

- check out the release on the genetic research project

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Genetic therapy could cure 1,800 diseases

Mon, 23 Apr 2007 20:01:39 -0400

New animal research into PTC124 at the University of Massachusetts Medical School indicated that it is effective in correcting the genetic disorder that causes Duchenne muscular dystrophy in about 15 percent of cases. Researchers say that DMD is sometimes triggered when the assembly process required to make proteins necessary for good health is interfered with by a DNA "nonsense mutation." The therapy works by prompting cells to ignore the mutations. The therapy, which is being developed by PTC Therapeutics, is now in human trials for DMD and cystic fibrosis. Researchers, though, have been excited by the potential for PTC124 to work against up to 1800 genetic diseases also linked to the same cellular process that triggers DMD. Those diseases include Hunter syndrome and beta thalassaemia. PTC Therapeutics recently pulled a planned IPO, saying that a series of partnerships and research grants provided enough capital for now to push its development programs without a public offering.

- see this summary on PTC124
- read the report from the Herald Sun

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Genetically modified cows to produce cheap insulin

Mon, 23 Apr 2007 20:01:39 -0400

Scientists working for Bio Sidus in Argentina have developed a genetically modified cow that can produce insulin in its milk. The company says the four cloned calves will start producing the insulin-rich milk when they reach maturity. To clone the cows, scientists insert a human gene into an embryo, which is then implanted in the mother. The insulin is later extracted from the milk. Bio Sidus said that the procedure can be used to develop insulin for 30 percent less than current methods and that 25 of the cows would be enough to provide insulin for all 1.5 million diabetics in Argentina. There are 200 million diabetics worldwide. Bio Sidus is one of a number of companies involved in transgenics.

- read the report on the new insulin manufacturing process from The Standard

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A biologic mechanism for weight gain

Mon, 16 Apr 2007 20:01:39 -0400

Scientists at Oxford and the University of Exeter say that a variant of the FTO gene that is carried by 16 percent of white Europeans made them 70 percent more likely to be obese than those with an alternative variant. Everyone is born is with two copies of the FTO gene, but there are two variants that are inherited. The group at the highest risk was on average 3 kg heavier than the low-risk group, and they carried 15 percent more body weight rather than muscle. The discovery is likely to set off a rush of new projects to determine how to influence the FTO gene as a mechanism for controlling weight. Obesity is linked to significantly higher rates of type 2 diabetes, cardiac disease and cancer. Combining a biological mechanism that encourages weight gain in a society where people are more sedentary and have plenty to eat has led to epidemic rates of obesity.

- read the report on obesity research from The Times

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Scientists probe key to memory enhancement

Mon, 09 Apr 2007 20:01:39 -0400

Scientists at McGill University are researching the effects of a gene linked to memory enhancement in hopes of developing a new therapy that could be used to improve memory in healthy people as well as treat dementia. In animal studies, researchers found that mice with a defective version of the gene were able to learn faster than others while enhancing the gene's effect was linked to memory impairment. The gene produces a protein that inhibits the physical response associated with memory. Memories are formed when cells are activated frequently enough to strengthen neural connections. The researchers studied to see how long it took mice to find a slightly submerged platform in water.

- read the article from The Guardian

Scientists identify path to addiction drug therapy

Mon, 02 Apr 2007 20:01:39 -0400

A group of researchers has identified genes that can help a person quit smoking. The study, published in the journal BMC Genetics, brings researchers a step closer toward tailoring individualized drug therapy for addiction based on an individual's unique genetic makeup. The research was conducted by Dr. George Uhl at NIDA's Intramural Research Program and a team led by Dr. Jed Rose at the Center for Nicotine and Smoking Cessation Research at Duke University Medical Center.

"This research marks the first time we've been able to identify genes involved in the ability to quit smoking," says NIDA Director Dr. Nora D. Volkow. "It marks a movement from identifying the genetics of addiction vulnerability to identifying the genetic basis of successful abstinence. This knowledge could impact the success rate of cessation programs by helping health care providers choose the most appropriate treatment based on individual differences."

- read the release on their work

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Researchers tout results for new Alzheimer's test

Mon, 19 Mar 2007 20:01:39 -0400

France's ExonHit Therapeutics says it could have a diagnostic test that can identify Alzheimer's. The disease has been notoriously difficult to diagnose at an early stage. But ExonHit says a panel of 60 biomarkers that can be detected in the blood can possibly be used to create the first such test. Researchers studied the diagnostic test in a trial involving 51 people with Alzheimer's and 34 who did not. The panel of genes was able to identify 78 percent of the patients with the disease and 82 percent of the volunteers who were free of it. A follow-up study is being prepared to further assess the ability of the test to ID Alzheimer's. ExonHit has a therapy in Phase Ib that is designed to reduce the buildup of amyloid plaque, widely believed to be central to the development of the disease.

"Biomarkers from blood represent a major step as compared to current methodology aimed at detecting biomarkers from cerebrospinal fluid obtained through a lumbar puncture" declares Gustavo Roman, professor of medicine and neurology at the University of Texas in San Antonio, and a member of ExonHit's Scientific Board.

- see this release on the biomarker research

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