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Scientists identify specific causative genetic mutation associated with CMT

Scientists using advanced genomic analysis technologies from Life Technologies Corporation have sequenced an individual’s genome and identified the specific causative mutation associated with Charcot-Marie-Tooth Disease (CMT), one of the most common inherited neurological disorders currently affecting 1 in 2,500 individuals in the United States.

11 Mar 2010

Genetic epidemiology: Importance of population genomics

Did women and men contribute equally to the lineage of contemporary populations? Did our ancestors, Homo sapiens, lean more toward polygamy or monogamy? To answer these questions, Dr. Damian Labuda, an investigator at the Sainte-Justine University Hospital Research Center and a professor at the Department of Pediatrics of the Universit- de Montr-al, headed a team that analyzed genomic data from three population samples of African, Asian and European origin. The study's findings are published in the most recent issue of the American Journal of Human Genetics.

5 Mar 2010

InterSystems Ensemble platform enables first successful electronic transmission of genetic data

InterSystems Corporation, the global leader in software for connected healthcare, today announced that InterSystems Ensemble® was the software platform for the first-ever successful electronic transmission of comprehensive genetic data. The information was sent cross-country from Boston-based Partners HealthCare Center for Personalized Genetic Medicine (PCPGM) to Intermountain HealthCare in Salt Lake City, Utah. The announcement about reaching this milestone in personalized medicine came at the HIMSS10 conference.

2 Mar 2010

Body repairs itself through microvesicles: New hope for tissue regeneration

Researchers at Rhode Island Hospital have discovered how cells communicate with each other during times of cellular injury. The findings shed new light on how the body repairs itself when organs become diseased, through small particles known as microvesicles, and offers hope for tissue regeneration.

27 Feb 2010

LGL awards first three grants from POC fund for research in immunotherapy, schizophrenia and heart disease

London Genetics Limited, an expert in the use of pharmacogenetics in clinical drug discovery and development, has awarded the first three grants from its proof-of-concept (POC) fund. The awards, to teams at Imperial College London and University College London, are for research in the areas of immunotherapy, schizophrenia and heart disease.

25 Feb 2010

SeqWright deploys Isilon scale-out NAS storage solution for next-generation genomic sequencing services

Isilon® Systems today announced that SeqWright has deployed Isilon scale-out NAS as an end-to-end storage solution for its full range of next-generation genomic sequencing services. By combining Isilon's X-Series, NL-Series and Backup Accelerator, SeqWright has created a comprehensive solution for every stage of its DNA sequencing workflow – from primary storage, to nearline archival, to tape backup – accelerating time-to-results without requiring full-time storage administration.

25 Feb 2010

New genetic data may help predict risk for end-stage kidney disease

Israeli and American researchers have identified new genetic data that could be used in the future to predict who will develop end-stage kidney disease (ESKD). ESKD requires dialysis or transplantation to sustain life, and is fatal in most regions of the world, where these treatments are not available.

24 Feb 2010

Pathogen study could provide new insights on gene regulation

About 50 percent of the world's population carry Helicobacter pylori (H. pylori) in their gastrointestinal tract - 30 percent of the German population are infected. Besides cancer, these bacteria are linked to other chronic diseases such as cardiovascular disease.

24 Feb 2010

Mechanism by which Plasmodium replicates itself in human blood to spread disease identified

Malaria remains one of the most deadly infectious diseases. Yet, how Plasmodium, the malaria parasite, regulates its infectious cycle has remained an enigma despite decades of rigorous research.

19 Feb 2010

HHS releases report highlighting health insurance premium increases

U.S. Department of Health and Human Services (HHS) Secretary Kathleen Sebelius today unveiled a new report, Insurance Companies Prosper, Families Suffer: Our Broken Health Insurance System. The report highlights health insurance premium increases in states across the country and comes shortly after Anthem Blue Cross announced plans to raise rates on its California customers by as much as 39 percent, even after its parent company took in a profit of $2.7 billion in the previous quarter. The complete report is available at www.HealthReform.gov.

19 Feb 2010

Study: Multiple genetic markers linked with CVD not associated with improvement in CVD risk prediction

Creation of a genetic risk score comprised of multiple genetic markers associated with cardiovascular disease (CVD) was not associated with significant improvement in CVD risk prediction in a study that included more than 19,000 women, according to a study in the February 17 issue of JAMA.

17 Feb 2010

Study: Common underlying mechanism causes complex defects in brain development and function

A new study reveals that a common underlying mechanism is shared by a group of previously unrelated disorders which all cause complex defects in brain development and function. Rett syndrome (RTT), Cornelia de Lange syndrome (CdLS) and Alpha-Thalassemia mental Retardation, X-linked syndrome (ATR-X) have each been linked with distinct abnormalities in chromatin, the spools of proteins and DNA that make up chromosomes and control how genetic information is read in a cell.

16 Feb 2010

Autism Speaks: Ten most significant autism research achievements in 2009

Autism Speaks, the world's largest autism science and advocacy organization has released its annual list of the 10 most significant research achievements to have impacted autism during the previous year. Every year, Autism Speaks documents the progress made toward its mission to discover the causes and treatment for autism spectrum disorders, and compiles a list of the 10 most significant research achievements to have impacted autism during the previous year.

10 Feb 2010

Companies may hit new anti-discrimination law when asking workers about health issues

Employers offering wellness and preventive health programs can sometimes run afoul of a new anti-discrimination law restricting their ability to ask workers about family medical histories, The Wall Street Journal reports.

2 Feb 2010

Breakthrough in HIV research leads to better treatment potential

Researchers have made a breakthrough in HIV research that had eluded scientists for over 20 years, potentially leading to better treatments for HIV, in a study published today in the journal Nature.

31 Jan 2010

Rubicon Genomics reaches agreement with ZyGEM to market its PicoPlex single-cell amplification kits

Rubicon Genomics, Inc., a developer of pre-analytical amplification products that enable more comprehensive genetic analysis of clinical and research samples, announced today that it has reached agreement with ZyGEM to non-exclusively market Rubicon's PicoPlex™ single-cell amplification kits in Australia and New Zealand.

30 Jan 2010

Should medical workers participate in the development of "medicalized" weapons?

(Garrison, NY) The latest issue of the Hastings Center Report features articles on "medicalized" weapons that temporarily incapacitate targets, sharing the benefits of newly found biological resources, and applications of GINA (the Genetic Information Nondisclosure Act).

29 Jan 2010

QIAGEN hosts panel discussion to educate public about the emerging promise of personalized medicine

The treatment of illness has traditionally been based on the law of averages – what works best for the largest number of patients. As a result, billions of dollars are spent every year on treatments that could be ineffective or even harmful for some patients. What if doctors could tell with a simple test which course of treatment would be best for a particular patient?

From QIAGEN Manchester Limited 29 Jan 2010

Researchers challenge prevailing assumptions in interpreting genome-wide studies

In the decade since the Human Genome Project produced the first map of DNA sequences in the human genome, scientists throughout the world have combed through genome data to identify genes and gene variants that cause human disease.

28 Jan 2010

New research project aims at understanding the genetic origins of childhood cancers

St. Jude Children's Research Hospital and Washington University School of Medicine in St. Louis, today announced an unprecedented effort to identify the genetic changes that give rise to some of the world's deadliest childhood cancers.

27 Jan 2010