Genetic Testing Under Way in Connecticut

Genetic Testing Under Way in Connecticut

In Mount Sinai’s Branford, Connecticut, laboratory, Research Associate Courtney Pietropaolo prepares DNA samples for sequencing.

In its first full year of operation, the Mount Sinai Genetic Testing Laboratory in Branford, Connecticut, has become an integral part of the Mount Sinai Health System’s efforts to better diagnose and treat disease.

The 16,400-square-foot facility, located 85 miles from New York City, has the high-throughput equipment to sequence thousands of samples monthly to uncover variations in DNA that code for Alzheimer’s and coronary disease, and cancer, among other diseases. Read more

Study Supports Palliative Care for Cancer Patients

Kavita Dharmarajan, MD, M.Sc

Kavita Dharmarajan, MD, M.Sc

Advanced-stage cancer patients who received palliative care required shorter durations of radiation treatment and had shorter hospital stays, according to a recent study at the Icahn School of Medicine at Mount Sinai.

“Radiation therapy is very effective at relieving pain, but the standard two weeks of treatment may be too long or burdensome for some patients, given the state of their illnesses,” says the study’s senior author, Kavita Dharmarajan, MD, M.Sc, Assistant Professor of Radiation Oncology, and Geriatrics and Palliative Medicine, at the Icahn School of Medicine at Mount Sinai. “We showed that shorter course treatments can be equally, if not more, effective, especially when combined with other forms of therapy that put patients first, and not the tumor.” Read more

Protecting the Brain From Bipolar Disorder

Sophia Frangou, MD, PhD

Sophia Frangou, MD, PhD

Individuals whose siblings have bipolar disorder are at high risk for developing mood disorders themselves. However, siblings who remain psychiatrically healthy may have a natural ability to rewire their brains that compensates for their genetic risk. These findings, led by Sophia Frangou, MD, PhD, Professor of Psychiatry at the Icahn School of Medicine at Mount Sinai, were published in the January 5, 2016, issue of Translational Psychiatry. Read more

Use of Big Data Leads to Discovery in Diabetes

Joel Dudley, PhDAfter carefully analyzing the electronic health records (EHRs) of 11,000 patients, investigators at the Icahn School of Medicine at Mount Sinai have discovered three potential new subtypes of type 2 diabetes.

The discovery, led by Joel Dudley, PhD, Director of Biomedical Informatics at the Icahn School of Medicine, highlights the power of new technology and the promise of precision medicine, as the Mount Sinai Health System ushers in the use of Big Data in discovering, treating, and preventing disease. The results of the study were published in Science Translational Medicine in October, 2015. Read more

Introducing NextStep Carrier Screening, the Most Comprehensive Panel Available

Introducing NextStep Carrier Screening, the Most Comprehensive Panel AvailableThe Mount Sinai Genetic Testing Lab, housed in the Department of Genetics and Genomic Sciences and led by Executive Director Lisa Edelmann, worked closely with clinical geneticists who see patients for rare diseases, as well as the bioinformatics team at the Icahn Institute for Genomics and Multiscale Biology at Mount Sinai, to create a line of new tests that help inform couples of their risk of having a child with a genetic disorder. Read more

New Birth Defects Research: The Gabriella Miller Kids First Research Program

Bruce Gelb

Bruce D. Gelb, MD

An exciting development in birth defects research emerged in 2015! In 2013, Gabriella Miller, a young girl dying from cancer, called upon the U.S. Congress for “less talking, more doing…We need action.” This stimulated Congress to pass the Gabriella Miller Kids First Research Act in 2014, which authorized $12.6 million/year for 10 years toward pediatric research. In implementing this mandate, the National Institutes of Health (NIH) decided to use the 2015 funds for performing whole genome sequencing (WGS) for certain childhood cancers and, of relevance here, for structural birth defects. Read more

National Recognition for Autism Researcher

National Recognition for Autism Researcher

Joseph D. Buxbaum, PhD

Joseph D. Buxbaum, PhD, a pioneering researcher in the field of autism, recently was elected to the National Academy of Medicine, considered one of the highest honors in medicine. New members are elected annually by current active members through a selective process that recognizes individuals who have made major contributions to advance medical sciences, health care, and public health.

A world-renowned molecular geneticist and neurobiologist, Dr. Buxbaum is Professor and Vice Chair for Research in the Department of Psychiatry, and Director of the Seaver Autism Center for Research and Treatment at Icahn School of Medicine at Mount Sinai. He is also Professor of Neuroscience, and Genetics and Genomic Sciences, and the G. Harold and Leila Y. Mathers Research Professor of Geriatrics and Adult Development. Read more

How Might Physical Exercise Stimulate Bone Synthesis?

Mone Zaidi, MD, PhDPrevious studies have shown that there is a clear relationship between physical activity and higher bone mineral density (BMD). Exercise and the force that muscle contraction applies to bone improve skeletal health by stimulating the formation of new bone. Conversely, off-loading muscle, such as in astronauts, can lead to bone loss and an increased fracture risk. But the question of how muscle function regulates bone mass has remained largely unresolved despite their close anatomical proximity. A key question is whether muscle contraction connects to bone mass regulation through a secreted molecule. Read more