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Newswise An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, has identified the microtubule-associated protein tau (MAPT) gene as increasing the risk for developing Alzheimers disease (AD). The MAPT gene encodes the tau protein, which is involved with a number of neurodegenerative disorders, including Parkinsons disease (PD) and AD. These findings provide novel insight into Alzheimers neurodegeneration, possibly opening the door for improved clinical diagnosis and treatment.

The findings are published in the February 18 online issue of Molecular Psychiatry.

Alzheimers disease, which afflicts an estimated 5 million Americans, is typically characterized by progressive decline in cognitive skills, such as memory and language and behavioral changes. While some recent AD genome-wide association studies (GWAS), which search the entire human genome for small variations, have suggested that MAPT is associated with increased risk for AD, other studies have found no association. In comparison, a number of studies have found a strong association between MAPT and other neurodegenerative disorders, such as PD.

Though a tremendous amount of work has been conducted showing the involvement of the tau protein in Alzheimers disease, the role of the tau-associated MAPT gene is still unclear, said Rahul S. Desikan, MD, PhD, research fellow and radiology resident at the UC San Diego School of Medicine and the studys first author.

In the new Molecular Psychiatry paper, conducted with collaborators across the country and world, Desikan and colleagues narrowed their search. Rather than looking at all possible loci (specific gene locations), the authors only focused on loci associated with PD and assessed whether these loci were also associated with AD, thus increasing their statistical power for AD gene discovery.

By using this approach, they found that carriers of the deleterious MAPT allele (an alternative form of the gene) are at increased risk for developing AD and more likely to experience increased brain atrophy than non-carriers.

"This study demonstrates that tau deposits in the brains of Alzheimer's disease subjects are not just a consequence of the disease, but actually contribute to development and progression of the disease," said Gerard Schellenberg, PhD, professor of pathology and laboratory medicine at the University of Pennsylvania, principal investigator of the Alzheimers Disease Genetics Consortium and a study co-author.

An important aspect was the collaborative nature of this work. Thanks to our collaborators from the Consortium, the International Parkinsons Disease Genetics Consortium, the Genetic and Environmental Risk in Alzheimers Disease, the Cohorts for Heart and Aging Research in Genomic Epidemiology, deCODE Genetics and the DemGene cohort, we had tremendous access to a large number of Alzheimers and Parkinsons genetic datasets that we could use to identify and replicate our MAPT finding, said Ole A. Andreassen, MD, PhD, professor of biological psychiatry at the University of Oslo and a senior co-author.

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Tau-Associated MAPT Gene Increases Risk for Alzheimer's Disease

Claremont, CA (PRWEB) February 17, 2015

Precision medicine is a hot topic in health care and scientific research. President Obama spoke about it in his State of the Union Address on January 22, and the White House quickly followed up with details about the Presidents Precision Medicine Initiative a $215 million investment that is aimed at accelerating biomedical discoveries and dramatically improving treatment options for a number of diseases, including those classified as rare.

In recognition of the potential of precision medicine to revolutionize the treatment of rare disease, the theme of Keck Graduate Institutes 6th Annual Rare Disease Day on Friday, February 27, is Precision Medicine for Rare Disease. Rare Disease Day is an international advocacy day to bring widespread recognition of rare diseases as a global health challenge. Each year, KGIs Center for Rare Disease Therapies recognizes the day with a speaker series, panel discussion and the showing of a documentary film on rare disease.

This years keynote speaker is Dr. Stanley Crooke, a pioneer in the field of precision medicine known as antisense therapy. Antisense gene therapy is a gene silencing technique. The therapy is called a gene silencing technique because, instead of repairing the gene that causes disease, it aims to silence the genes effect. As the founder, chairman and CEO of Isis Pharmaceuticals, Dr. Crooke has led the scientific development of antisense technology and engineered the creation of one of the largest and more advanced development pipelines in the biotechnology industry. Isis has achieved commercialization of the first two antisense drugs to reach the market, Vitravene and KYNAMRO. KYNAMRO, approved in January 2013, is the first systemically administered antisense drug to be approved and the first to be approved for lifelong treatment of a chronic rare disease, Homozygous Familial Hypercholesterolemia, disorder of high LDL (bad) cholesterol that is passed down through families.

Precision medicine is the new trend for gene therapies and antisense therapies. It involves utilizing very precise methods for replacing or inhibiting mutant genes known to cause a disease, said Dr. Ian Phillips, director of KGIs Center for Rare Disease Therapies. Having Dr. Crooke as a speaker at this years Rare Disease Day is an incredible opportunity for our students and members of our community to hear firsthand how Isis has been at the forefront of this research and technology.

Chris Garabedian, CEO of Sarepta Pharmaceuticals, is also slated to speak at the event. He will talk about the development of antisense therapy to treat Duchenne muscular dystrophy, a rare disease affecting around 1 in 3,600 males, which results in muscle degeneration and eventual death. His talk will also cover medical countermeasures (MCMs) against the Ebola, Marburg and flu viruses, and against antibacterial resistance.

The Rare Disease Day event will also include the showing of the film Silent Angels: The Rett Syndrome Story. Narrated by actress Julia Roberts, the documentary film explores the lives of children (primarily girls) living with this rare disorder of the nervous system that leads to developmental reversals, especially in the areas of expressive language and hand use.

Rare Disease Day at KGI will also include a panel discussion with Dr. Tim Cot, the founder of Cot Orphan Consulting and a former director of the FDAs Office of Orphan Product Development; Dr. Jon Bui, associate professor at UC San Diego School of Medicines Department of Neurosciences; Dr. Sukirti Bagal, director, US & Global Medical Affairs and Clinical Development, Pfizer; and Barbara Lavery, board member, Global Genes. Global Genes is one of the leading rare disease patient advocacy organizations in the world.

KGIs 6th Annual Rare Disease Day will take place on Friday, February 27 at KGIs campus in Claremont, CA. For more information contact Kelly Esperias at Kelly_Esperias(at)kgi(dot)edu or 909-607-9651.

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2015 Rare Disease Day at KGI to Explore the Use of Precision Medicine for the Treatment of Rare Disease

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Newswise BOSTON President Barack Obama is requesting an increase of $215 million in the 2016 federal budget to launch the Precision Medicine Initiative. This boost in funding for research will give genetic causes of cancer a national focus specifically around precision or personalized treatments for cancer in the future.

Here are some facts about precision medicine:

1) What is precision or personalized medicine?

Physicians have long recognized that the same disease can behave differently from one patient to another, and that there is no one-size-fits-all treatment. Precision medicine makes diagnosis and treatment of cancer and other diseases more accurate, using the specific genetic makeup of patients (and, in cancer, of their tumors) to select the safest and most effective treatments for them.

In cancer, precision medicine involves testing DNA from patients tumors to identify the mutations or other changes that drive their cancer. Then a treatment for a particular patients cancer that best matches, or targets, the culprit mutations in the tumor DNA is used. While such therapies are not widespread yet, many cancer specialists believe precision treatments will be central to the future of cancer care.

2) Do all patients receive precision or targeted treatment?

Not all patients need targeted therapy to treat their type of cancer. The use of targeted therapies is meant for patients whose tumors have specific gene mutations that can be blocked by available drug compounds. Patients who have mutations in certain types of genes, who have mutations that are beyond the reach of available drugs, or whose tumor cells lack identifiable mutations generally would not be candidates for personalized medicine treatments.

According to the National Cancer Institute, a patient is a candidate for a targeted therapy only if he or she meets specific criteria, which vary depending on the disease. These criteria are set by the Federal Drug Administration (FDA) when it approves a specific targeted therapy.

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Dana-Farber Experts Share Five Things You Should Know About Precision Medicine