Tag Archives: genetics

Alzheimer’s Drug Candidate May be First to Prevent Disease Progression

Source: Newswise

A new drug candidate may be the first capable of halting the devastating mental decline of Alzheimer’s disease, based on the findings of a study published today in PLoS one.

When given to mice with Alzheimer’s, the drug, known as J147, improved memory and prevented brain damage caused by the disease. The new compound, developed by scientists at the Salk Institute for Biological Studies, could be tested for treatment of the disease in humans in the near future.

“J147 enhances memory in both normal and Alzheimer’s mice and also protects the brain from the loss of synaptic connections,” says David Schubert, the head of Salk’s Cellular Neurobiology Laboratory, whose team developed the new drug. “No drugs on the market for Alzheimer’s have both of these properties.”

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Video Game Players Advancing Genetic Research

Source: McGill University

Thousands of video game players have helped significantly advance our understanding of the genetic basis of diseases such as Alzheimer’s, diabetes and cancer over the past year. They are the users of a web-based video game developed by Dr. Jérôme Waldispuhl of the McGill School of Computer Science and collaborator Mathieu Blanchette. Phylo is designed to allow casual game players to contribute to scientific research by arranging multiple sequences of coloured blocks that represent human DNA. By looking at the similarities and differences between these DNA sequences, scientists are able to gain new insight into a variety of genetically-based diseases.

The researchers are releasing the results computed from the solutions collected over the last year today, together with an improved version of Phylo for tablets.

Over the past year, Phylo’s 17,000 registered users have been able to simply play the game for fun or choose to help decode a particular genetic disease. “A lot of people said they enjoyed playing a game which could help to trace the origin of a specific disease like epilepsy,” said Waldispuhl. “There’s a lot of excitement in the idea of playing a game and contributing to science at the same time,” Blanchette agreed. ”It’s guilt-free playing; now you can tell yourself it’s not just wasted time.”

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$400M for Personalized Medicine

Captured by The Scientist

The National Institutes of Health promises about $400 million to help get personalized genetics into the clinic.

The National Human Genome Research Institute announced that it is sending approximately $300 million to three institutes to continue work on the 1000 Genomes Project, which aims to catalogue DNA variation in people, and the Cancer Genome Atlas,  which is investigates the genetic changes that characterize cancers, according to ScienceInsider.

An additional $100 million will go to several new projects that will help translate some of this genomic information into the clinic. For example, $20 million will go towards the development of software for processing large sets of genomic data into medically relevant information—a capability that few currently have, outside of large sequencing centers, reported Nature.  Another chunk of the funds will go towards the study of rare single-mutation heritable disease that shed light on basic human physiology.

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The Case for Personalized Medicine

Captured by Personalized Medicine Coalition

The Personalized Medicine Coalition (PMC) released the 3rd edition of its landmark report, The Case for Personalized Medicine.  The report documents the growth of commercially available personalized medicine products from 13 in 2006 to 72 today, and examines opportunities for the continued development and adoption of personalized medicine as the cost of genetic sequencing declines, the pharmaceutical industry increases its commitment to personalized approaches to drug development and the public policy landscape evolves.

The Case for Personalized Medicine documents personalized medicine’s remarkable progress, evidenced by improved patient outcomes, shifting research models and increased industry investment. Yet it underscores the necessary steps required to align regulatory and reimbursement systems, thereby removing barriers that will increase personalized medicine innovation and speed its adoption,” said Edward Abrahams, Ph.D., President of the Personalized Medicine Coalition.

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Three Hospitals Partner in Cancer Research

Captured by Indianapolis Star
1/10

Three Indianapolis hospital systems announced today their participation in a ground-breaking national project that could yield countless insights into better ways to prevent, diagnosis and treat cancers. Franciscan St. Francis Health, St. Vincent Health, and Community Health Network are among 14 sites across the country collecting tissue samples from cancer patients for The Cancer Genome Atlas project. Researchers will then analyze each cancer’s genetic information and make the data available online for any scientist in an attempt to learn the disease’s secrets to success. Over the next five years, the $275 million project aims to collect samples from more than 10,000 patients. Scientists at Phoenix’s International Genomics Consortium will sequence the genomic information from 500 tumors for each of the 20 most common cancers.

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Coverage Policy for Genetic Tests Should Reflect Clinical Utility

Captured by Managed Healthcare Executive magazine
December issue

Medical science has progressed exponentially in recent years, but the challenge for insurers continues to be determining coverage policies. Clay Marsh, MD, executive director of the Center for Personalized Health Care at The Ohio State University, says some forms of genetic tests are more commonly accepted than others such as the test that looks for BRCA1 or BRCA2 genes in women who have breast cancer. Marsh says some of the earliest research in genetic testing has been done in the area of pharmacogenomics to identify how patients with certain genetic profiles will respond to a drug.
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Jackson Lab Plans New $1.1B Genome Institute in Connecticut

Captured by GenomeWeb 

The Jackson Laboratory plans to build a genomic medicine research center in Connecticut and is working with the state’s governor and the University of Connecticut to ask the legislature to help fund the building and its operations, the state governor’s office said today.

Jackson Lab and Gov. Dannel Malloy said in a press conference today that the Jackson Laboratory for Genomic Medicine would be located on the UConn Health Center’s campus in Farmington, and that it would employ 300 people over the first 10 years and a total of 600 within 20 years.

The Bar Harbor, Maine.-based institute and Malloy have proposed a total capital and research budget of around $1.1 billion over 20 years, including $291 million from the state to build, outfit, and operate the facility. Jackson Lab said it expects to add $809 million for the lab through its own federal research grants, philanthropy, and service income. The state Legislature is expected to review Malloy’s proposal in late October.

Jax Genomic Medicine would combine Jax’s genetics and genomics expertise with the clinical and biological capabilities of Connecticut’s institutions, including UConn and Yale University. Specialty areas for the new lab could include cancer, aging, genetic disorders, metabolic diseases, and others.

The 173,500 square-foot building near the UConn Health Center campus would house 30 principal investigators and resources, staff, and space would be dedicated to the translation of new applications such as diagnostics and computational services into commercial products. The institute also said that the new lab would identify new potential treatments that could then be tested up at its Bar Harbor facility.

Jax also said that it wants to help the UConn center grow its faculty and to advise the state’s economic development agencies to identify the best industrial and biotech partners in personalized medicine. Read more…

UNC, BU, Roswell Land $19.3M for African-American Cancer Study

Captured by GenomeWeb

A research partnership project between the University of North Carolina, Chapel Hill, Roswell Park Cancer Institute, and Boston University will use a $19.3 million grant from the National Cancer Institute to study how genetics and environment interplay in breast cancer cases among younger African-American women.

The study continues ongoing efforts based at UNC’s Lineberger Comprehensive Cancer Center to study why African-American women under the age of 45 are more likely to be diagnosed with aggressive types of breast cancer and have poorer outcomes than American women of European ancestry in the same age groups, according to UNC, BU, and Roswell.

In that age group, African-American women have a 76 percent five-year survival rate compared to an 88 percent survival rate for white women, according to the most recently-available data, according to UNC.

The grant will pull together breast cancer cases from four ongoing studies — the Carolina Breast Cancer Study, the Women’s Circle of Health Study, the Black Women’s Health study, and the Multiethnic Cohort Study, and will involve more than 5,000 participants.

“Our aim is to explore the potential biologic, environmental and epidemiologic causes of this difference in cancer incidence,” Robert Millikan, a professor of cancer epidemiology at UNC, said in a statement today. “Our previous studies and those of our colleagues have suggested hypotheses that we will be investigating with this larger group of patients.” Read more…

The Ohio State University Pioneering the Advancement of HealthCare Delivery

Guest post by Clay Marsh, MD; Senior Associate Vice President for Health Sciences Research, The Ohio State University Medical Center; Vice Dean for Research, The Ohio State University College of Medicine; Executive Director, Center for Personalized Health Care, The Ohio State University Medical Center

Clay Marsh

The Centers for Medicare and Medicaid services reported that total healthcare spending in the United States for 2009 topped $2.5 trillion. The Centers for Disease Control and Prevention estimate that more than 75 percent of national healthcare spending is applied to the treatment of chronic diseases, many of which is preventable. Researchers and clinicians of The Ohio State University recognize that a new approach to medicine is needed to make our healthcare system financially sustainable and to improve the quality of life for every American.

The Ohio State University Medical Center is transforming healthcare delivery from its current reactive, or “sick care” mode, to a proactive one that makes health care more predictive, preventive, personalized and participatory – what Ohio State’s Medical Center refers to as P4 Medicine.

P4 Medicine focuses on creating systems and processes to deliver key evidence-based practices and to stratify individuals into smaller precise populations to deliver these key interventions. The goal of P4 Medicine is to reduce healthcare costs and improve outcomes, and it embraces the interface between an individual’s unique DNA, environment and behavior to choose the right intervention at the right time for the right person. P4 Medicine utilizes advances in genomics and molecular diagnostics discoveries to provide predictive information that is necessary to tailor, or personalize, disease management approaches for each individual. Therapeutics and health management tools are being developed to help prevent disease instead of merely treating the symptoms. Medicine of the future is also participatory. Patients will have access to a single portal that electronically stores their medical records and genetic profiles and tools that analyze these data to guide them to precise strategies to promote wellness. In addition, social networking and the power of games will be instrumental to engaging the consumer to taking ownership of their health care.

Our goal is to transform disease-based care of today to wellness-based care of the future. Together, we are well positioned to develop more specific, effective and efficient treatments for patients with disease and to create tools that define wellness at a deep molecular level, empowering individuals to take an active role in their health care.

How are you living P4 Medicine, and actively participating in your individual health care?

For more information about Ohio State’s Center for Personalized Health Care and P4 Medicine, go to: http://cphc.osu.edu or http://phc.osumc.edu/. To receive a free subscription to Ohio State’s “P4 Medicine Update” – a compilation of industry news and research developments relevant to the advancement of predictive, preventive, personalized and participatory medicine – contact Sherri Kirk, Program Director, Ohio State’s Center for Personalized Health Care, 614-366-3277, or Sherri.Kirk@osumc.edu.

Virtual Health Clinics and Pharmacogenomics Focus on Wellness

Amy Sturm

Post by Amy Sturm, Human Genetics, The Ohio State University’s Center for Personalized Health Care

Ohio State Medical Center genetic counselors Amy Sturm and Kevin Sweet and medical geneticist Kandamurugu Manickam, MD, along with Center for Personalized Health Care(CPHC) staff members, are currently working on the development of a new Virtual Genomics Clinic, which will offer genomic counseling through telemedicine vehicles. This genomic counseling service will focus on wellness and keeping healthy individuals from developing disease.  The virtual clinic will also provide genetic counseling services for a wide array of single-gene disorders and common, complex diseases.  This comprehensive risk assessment will include medical history, family history, behavioral and environmental risk factor analyses, as well as genetic testing services when applicable.  Those individuals interested in participating may also pursue different types of genomic testing services.

Pharmacogenomics (PGx)

An especially important area of P4 Medicine is pharmacogenomics, or the study of genetic variants that influence a person’s response to certain drugs. The metabolism of many different drugs is influenced by one’s genetic background. Among the most common are the Cytochrome P450 (CYP) genes, which encode enzymes that control the metabolism of more than 70 percent of prescription drugs.   People who carry variations in certain CYP genes often do not metabolize drugs normally, and this can influence response in many ways.  Knowing whether a person carries any of these genetic variations can help the healthcare team individualize drug therapy, decrease the number of adverse drug reactions, and increase the effectiveness of drugs.

Members of CPHC are collaborating on a new project with Wolfgang Sadee, PhD, chair of pharmacology at Ohio State, and Peter Embi, MD, MA, associate professor of biomedical informatics at Ohio State, to facilitate the use of genetic variant analysis to determine a patient’s response to certain prescription drugs, and to have this information available in the Ohio State Medical Center electronic medical record (IHIS). The initial focus will target a genetic variant known as CYP2C19 that influences how patients respond to the drug clopidogrel (Plavix). Plavix is a platelet inhibitor used in the treatment and prevention of a number of cardiovascular diseases.  Plavix must be metabolized into its active form by the cytochrome P450 enzyme, CYP2C19, and certain genetic variants can alter a patients’ response.  Some people are slow metabolizers, leading to an increased risk for heart attack.  Having this test available, and the use of advisory flags in IHIS to readily alert the healthcare team for when the drug is prescribed will lead to more effective treatments and safer applications.

Medical geneticist Kandamurugu Manickam, MD and genetic counselors Kevin Sweet and Amy Sturm are leading the clinical implementation of pharmacogenomics at Ohio State.