Feb 27, 2010
Feb 16, 2010
A collaboration, led by scientists at the Garvan Institute of Medical Research and the University of New South Wales (UNSW) in Sydney, has discovered the first risk gene specifically for bipolar disorder, also known as manic-depressive illness. This means that people who have a particular form of this gene are twice as likely to develop the disease.
Lead author, Dr Ian Blair, says: “We are the first group in the world to take a multi-faceted approach to identify a bipolar risk gene - we used a number of families, unrelated patients, and therapeutic drug mouse models. Each of these three lines of investigation led us to a gene called FAT.”
Contributing author Professor Phil Mitchell, Head of Psychiatry at UNSW, says: “Over the last twenty years we have collected blood samples from 67 families right across Australia. This amounts to hundreds of family members (904), some of whom are spread across four generations. This was a strong starting point in our hunt for a Bipolar gene.”
"We know that the FAT gene codes for a protein that is involved in connecting brain cells together, what we need to do now is find out exactly how it contributes to the increased risk of bipolar disorder,” explains Dr Blair.
While other scientists have found genes associated with Bipolar, most of them haven’t stood up to scrutiny. The Sydney discovery has been verified in four independent study groups: two in the UK, one in Australia, and one in Bulgaria.
Bipolar disorder is a major psychiatric illness affecting around two people in every 100. Tragically, around one in six people suffering from the condition will commit suicide.
Mood-stabilising medications are typically prescribed to help control bipolar disorder. Lithium was the first mood-stabilising medication approved by the U.S. Food and Drug Administration (FDA) for treatment of mania. For decades it has been widely prescribed for the treatment bipolar disorder, yet no one knows for sure why it works.
“Lithium has a number of severe side effects that include tremor and weight gain. Kidney dysfunction may develop in a small proportion of patients when it is administered for long periods of time,” says Professor Mitchell.
This new research has raised the possibility that lithium exerts its therapeutic affect by altering FAT gene expression, as well as the expression of genes encoding FAT’s protein partners.
“Once we understand exactly what the FAT gene does, we will be able to develop better diagnostic tests for bipolar disorder. In the future, we hope our research will lead to new, targeted medicines specifically for bipolar disorder that don’t have the unpleasant side effects that lithium has,” says Dr Blair.
Feb 15, 2010
News: the Illumina HiSeq can produce 200 gigabases (Gb) of sequence data and 2 billion reads per run. When it was launched we knew that BGI in China had signed an agreement to buy 128 of these machines but no-one has fessed up to owning one just yet.
Things might have changed today.
Two updates to the map of high-throughput sequencers, one hot on the heels of the other are both advertising HiSeq capability in Europe. GATC and DNAvision, both service companies have updated the map to say they have a HiSeq machine ready and waiting to service customers. Their corporate websites are a bit less clear on whether it has actually arrived yet, indicating probably that the HiSeq has just been ordered.
Feb 12, 2010
Combined capabilities will deliver precision health services designed to improve
clinical and financial outcomes
FRANKLIN LAKES, N.J. and SAN FRANCISCO, Feb. 2, 2010 –– Committed to being at the forefront
of translating personalized medicine from the science to its daily practice in healthcare, Medco Health
Solutions, Inc (NYSE:MHS) today announced the acquisition of DNA Direct, Inc., a leader in providing
guidance and decision support for genomic medicine to patients, providers, payors and employees.
Financial details of the acquisition were not released.
“DNA Direct has been a recognized pioneer in assimilating knowledge about molecular diagnostic testing
and deploying certified genetics professionals to help rationalize the opportunities and implications faced
by many in this new and rapidly evolving field,” said David B. Snow Jr., Medco chairman and chief
By integrating DNA Direct’s physician, client and patient support services and capabilities with Medco’s
growing portfolio of personalized medicine capabilities and extensive customer base, Medco intends to
deliver a broader suite of precision health services, ranging from consumer education to clinical decision
“Medco is simply the most innovative and forward thinking healthcare company in the industry today,”
said Ryan Phelan, DNA Direct founder and CEO. “Having spent the past 25 years as an entrepreneur
translating healthcare information to patients, I can’t think of a better partner to take personalized
medicine to the next level.”
DNA Direct is the first genomics-focused company offering URAC-accredited utilization management
programs to help payors ensure the appropriate use of the more than 2,000 genetic and molecular tests
available today. URAC is a Washington D.C.-based health care accrediting organization that establishes
quality standards for the health care industry. DNA Direct’s national call center of genetic experts,
complemented by online decision support services help physicians and patients determine if genetic tests
are appropriate and how to use genetic test results to guide clinical decisions. Medco’s existing
personalized medicine approach encompasses a robust pipeline of important pharmacogenetic research,
turnkey testing programs for drugs like tamoxifen and warfarin, and warnings on over 50 drug-gene
interactions, which are used by Medco's specialist pharmacists to inform physicians and patients about
potential therapy adjustments to ensure the safety and efficacy of the treatment.
“When a Fortune 50 company like Medco makes a commitment to personalized medicine with an
acquisition like this, it’s proof positive that we are at a turning point in the healthcare industry,” said
Sharon Terry, president and chief executive officer of Genetic Alliance. “Integrating Medco’s
phenomenal capacity to respond to its members, with the innovative and creative patient-focused services
of DNA Direct is a win for all consumers.”
The DNA Direct purchase builds upon Medco’s commitment to advancing pharmacogenomics (PGx), a
cornerstone of which is the company’s Personalized Medicine Research Center. The research center is
dedicated to furthering the understanding of the impact of genetics on patient medication response and
applying that science to clinical practice. As knowledge is gained through the research, applications will
be rolled out to the broader client base within Medco’s precision health services.
“By integrating proven state-of-the-art science into every day care, we are providing patients and
providers with actionable information that drives more personalized care to achieve higher efficacy or
improved safety,” said Dr. Robert Epstein, Medco’s chief medical officer. “We have already started this
today with our existing Personalized Medicine programs. DNA Direct will serve to accelerate our speedto-
market implementation capabilities, transforming research into actionable services to meet the
demands of our clients and patients.”
Medco Health Solutions, Inc. (NYSE: MHS) is pioneering the world’s most advanced pharmacy® and its
clinical research and innovations are part of Medco making medicine smarter™ for more than 60 million
With more than 20,000 employees dedicated to improving patient health and reducing costs for a wide
range of public and private sector clients, and 2008 revenue exceeding $51 billion, Medco ranks 45th on
the Fortune 500 list and is named among the world’s most innovative, most admired and most trustworthy
For more information, go to http://www.medcohealth.com.
About DNA Direct
DNA Direct was founded in 2005 to deliver guidance and decision support for genomic medicine to
patients, providers and payers -- reducing health risks, preventing disease, and better targeting therapies.
The first genomics-focused company to receive full URAC accreditation for utilization management in
the U.S, DNA Direct’s comprehensive clinical programs combine proprietary technology with genetic
expertise including a national call center of genetic experts, web-based applications, and educational
resources and training. The company is based in San Francisco and was backed by Firefly Investments
and Lemhi Ventures. For more information, visit www.dnadirect.com.
Feb 8, 2010
Feb 5, 2010
Feb 2, 2010
Adults at risk of either prostate cancer or an erratic heart beat that can lead to strokes can now be identified early by genetic testing. About one in 20 elderly people suffer from atrial fibrillation, a condition in which turbulent blood flow raises the risk of blood clots, which can then lodge in the brain and cause a stroke.
Now an Icelandic company, deCODE, has announced in the journal Nature that it has found a variation in the human DNA sequence which raises the risk of atrial fibrillation, and used it as the basis of a test which will make it possible to identify those who will benefit the most from treatment. The firm's researchers found two "spelling mistakes" or single-letter variations in the human genetic code which increase the risk of atrial fibrillation by about 70 per cent and 40 per cent, doubling that risk if two copies of the variants are carried.
Because of the link with stroke, the company believes testing for these variants will provide doctors with a cost-effective means of identifying those who should be intensively monitored and reduce their risk by taking anticoagulant drugs. Passing abnormalities in heart rhythm are difficult to detect in many patients and it is impractical and too costly to conduct extended cardiac monitoring, even in patients who have had a stroke. The "spelling mistakes" in DNA linked with the risk were found through analysis of more than more than 300,000 common single-letter DNA changes in more than 5,000 Icelanders and were replicated in a further worldwide study of 18,000 subjects.