Genetic News and Research

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CHD8, SNC2A and KATNAL2 gene mutations lead to ASDs

Mutations in three new genes have been linked to autism, according to new studies including one with investigators at Mount Sinai School of Medicine. All three studies include lead investigators of the Autism Sequencing Consortium.

5 Apr 2012

Fathers more likely to transmit spontaneous mutations to children with ASDs

Researchers have turned up a new clue to the workings of a possible environmental factor in autism spectrum disorders (ASDs): fathers were four times more likely than mothers to transmit tiny, spontaneous mutations to their children with the disorders. Moreover, the number of such transmitted genetic glitches increased with paternal age. The discovery may help to explain earlier evidence linking autism risk to older fathers.

5 Apr 2012

More than 4 in 10 people at high risk for hereditary pancreatic cancer have small lesions

A team of scientists led by Johns Hopkins researchers have found that more than four in 10 people considered at high risk for hereditary pancreatic cancer have small pancreatic lesions long before they have any symptoms of the deadly disease.

5 Apr 2012

Olanzapine improves survival in mouse model of anorexia nervosa

Low doses of a commonly used atypical antipsychotic drug improved survival in a mouse model of anorexia nervosa, University of Chicago researchers report this month. The result offers promise for a common and occasionally fatal eating disorder that currently lacks approved drugs for treatment.

5 Apr 2012

New SORL1 gene causes early-onset Alzheimer's

A new gene that causes early-onset of Alzheimer's disease has been discovered by the research team of Dominique Campion at the Insert unit 1079 "Genetics of cancer and neuropsychiatric diseases" in Rouen.

5 Apr 2012

Getting pregnant while on a diet may lead to an obese baby: Study

Researchers found in a study on sheep that giving ewes less food at the time of conception caused DNA changes in the brains of their young. The University of Manchester scientists suspect the findings may hold true for humans as well and could explain why twins are more likely to develop Type 2 diabetes in adulthood.

4 Apr 2012

Bare platinum coils vs. newer gel-coated coils for aneurysm treatment

Approximately 6 million Americans have brain aneurysms, a condition that occurs when a weak or thin spot develops on a blood vessel in the brain causing it to balloon. Often, these do not cause symptoms and go undetected, but every year an estimated 30,000 Americans experience a ruptured aneurysm that bleeds into the brain causing a life threatening injury.

4 Apr 2012

Reactivation of p53 may be a highly selective treatment modality for virally-induced lymphoma

Kaposi's sarcoma herpesvirus (KSHV) is a human tumor virus and an etiological agent for Kaposi's sarcoma and primary effusion lymphoma (PEL). PELs are aggressive lymphomas with reported median survival time shorter than six months after diagnosis.

4 Apr 2012

Drugs that target cholesterol pathway may enhance cancer-killing potential of chemotherapy drugs

Johns Hopkins investigators are testing a way to use drugs that target a cholesterol pathway to enhance the cancer-killing potential of standard chemotherapy drugs. Their tests, in mouse models of pancreatic cancer, may yield new and more effective combinations of current and possibly new anti-cancer drugs.

4 Apr 2012

Impact of Personal Genomics Study to launch data collection phase

As genetic risk information plays an increasingly important role in the diagnosis and treatment of many diseases, private companies have made personal genomic testing for these risk factors widely available to the public. However, very little data has been gathered to understand the motivations and expectations of consumers of personal genomic services, the psychological and behavioral impact of these services, and the associated ethical, legal and social issues—until now.

4 Apr 2012

Causes of traumatic brain injury in older population

As the population ages in western countries, traumatic brain injury (TBI) resulting mainly from falls is on the rise among the elderly, introducing new complications and treatment challenges, according to an article in Journal of Neurotrauma, a peer-reviewed journal from Mary Ann Liebert, Inc.

4 Apr 2012

Preterm or post-term babies with autism more likely to self-injure

For children with autism, being born several weeks early or several weeks late tends to increase the severity of their symptoms, according to new research out of Michigan State University.

4 Apr 2012

Hepatitis B-infected patients with longer telomeres more likely to develop HCC

Hepatitis B-infected patients with significantly longer telomeres—the caps on the end of chromosomes that protect our genetic data— were found to have an increased risk of getting liver cancer compared to those with shorter ones, according to findings presented by researchers at Jefferson's Kimmel Cancer Center at the American Association for Cancer Research (AACR) Annual Meeting 2012.

4 Apr 2012

Gbb38 protein helps explain how cells send many long-haul messages

As they work together to form body parts, cells in developing organisms communicate like workers at a construction site. The discovery of a new signaling molecule in flies by Brown University biologists not only helps explain how cells send many long-haul messages, but also provides new clues for researchers who study how human development goes awry, for instance in cases of cleft lip and palate.

3 Apr 2012

Genomic fortune-telling fails to provide informative guidance to most people

With sharp declines in the cost of whole genome sequencing, the day of accurately deciphering disease risk based on an individual's genome may seem at hand. But a study involving data of thousands of identical twins by Johns Hopkins investigators finds that genomic fortune-telling fails to provide informative guidance to most people about their risk for most common diseases, and warns against complacency born of negative genome test results.

3 Apr 2012

UT Southwestern molecular biologist to receive Steven C. Beering Award

Dr. Eric N. Olson, chairman of molecular biology at UT Southwestern Medical Center, is the winner of the 2012 Steven C. Beering Award for outstanding advancements in biomedical or clinical science.

3 Apr 2012

Genetic counseling does not help parents in disclosing their breast cancer information to children

When a mother undergoes genetic testing to determine whether she carries a gene for hereditary breast cancer, the parents must then decide whether and how to share this risk information with their children.

3 Apr 2012

NutraGene introduces first ever commercial type 2 diabetes genetic test

With the launch of the country's first ever commercial genetic test for type 2 diabetes, Indians will now have access to clinically relevant and cost effective genetic risk assessment services. NutraGene, a Delhi based genomics company that launched the tests believes that its type 2 diabetes genetic test will provide physicians an effective tool in assessing the risk of diabetes in the Indian population and will help in implementing personalized prevention and management strategies.

3 Apr 2012

MMRF announces unique oncology research partnership

The Multiple Myeloma Research Foundation (MMRF) today announced a unique oncology research partnership. This multi-year agreement involves several partners including the Translational Genomics Research Institute (TGen), Spectrum Health, and the Van Andel Research Institute.

3 Apr 2012

Controversial study on lethal bird flu virus strain to be published

The controversial study on lethal flu virus strain is likely to be published in full. Last December the National Science Advisory Board for Biosecurity - NSABB recommended the two papers not be published in full by the journals - Nature and Science. The panel was concerned that details of the studies, which induced mutations in the H5N1 avian flu virus that made it transmissible among mammals by air rather than by close physical contact, could be used for bioterrorism. Critics of the recommendation raised fears that important science was being censored.

2 Apr 2012