Understanding the Roots of Autism

Specific cellular pathways, along which genetic mutations occur, appear to play a key role in the development of autism spectrum disorders (ASD), according to new research from Icahn School of Medicine at Mount Sinai.

The findings, published online in the April 24, 2014, issue of The American Journal of Human Genetics, provide scientists with a better understanding of the complex genetic architecture involved in ASD, which has its roots in early brain development.

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Mount Sinai Presents Groundbreaking Findings on Heart Procedure

In a groundbreaking, multi-centered randomized trial published in The New England Journal of Medicine, researchers, co-led by Mount Sinai’s David H. Adams, MD, determined that a catheter-based heart procedure to replace an aortic valve was superior to surgery for patients who have symptomatic severe aortic stenosis with increased risks. The findings, based on a clinical trial involving 795 patients treated at 45 institutions across the nation, were simultaneously presented by Dr. Adams at the 63rd Annual Scientific Session of the American College of Cardiology on Saturday, March 29, and represent a major advance for heart patients who are at high risk for surgery.

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Genetic Research Leading to Advances in Autism Care

Autism spectrum disorder (ASD) describes a group of neurodevelopmental disorders with a wide range of severity and symptoms affecting 1 out of 68 children in the United States. While there is currently no medicine for this complex condition, discovering genetic causes of ASD will help accurate diagnosis and prediction of additional likely symptoms, thereby improving medical treatment. Genetic findings can also provide families with critical information about the clinical course of the disease and provide opportunities for family counseling. New genetic findings allow scientists to conduct more specific research into the mechanisms that cause ASD as well as the many subtypes and symptoms of the condition. Finally, genetic findings also allow for detailed study of the way these genes function, which can help scientists design new treatments and develop more tailored medical support in the form of personalized medicine.

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Mount Sinai Scientists Appear on CBS This Morning

In February, CBS This Morning had a segment on Mount Sinai’s novel use of fruit flies to screen for personalized cancer drugs. Ross Cagan, PhD, Associate Dean of the Graduate School of Biomedical Sciences at Icahn School of Medicine at Mount Sinai, discussed how his laboratory replicates a patient’s tumor and implants it in a fruit fly. Then his team tests an arsenal of 840 drugs—all approved by the U.S. Food and Drug Administration for other uses—to see if they shrink the tumor.

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New Findings from Mount Sinai’s Seaver Autism Center

The most recent study from the Seaver Autism Center at Mount Sinai draws a possible link between the genetic abnormalities attributed to autism spectrum disorder (ASD), and dysregulation of the mechanism by which unused neural connections are pruned during development. This information builds upon prior discoveries at the Seaver Center, which identified three kinds of genetic mutations that are believed to contribute to autism risk: de novo mutations; recessive or X-linked mutations; and small chromosomal abnormalities.

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Studying the Effect of Vitamin E on Functional Decline in Alzheimer’s Disease

Functional decline, measured as the loss of ability to accomplish activities of daily living, such as bathing and dressing, planning or cooking a meal, and paying bills, is the major symptom in individuals with Alzheimer’s disease and the primary source of caregiver burden. Yet, few studies have focused on ways to slow this functional decline.

In a recently published study in The Journal of the American Medical Association, researchers, co-led by an investigator from Icahn School of Medicine at Mount Sinai, reported that vitamin E, also known as alpha tocopherol, reduced functional decline in patients with mild-to-moderate Alzheimer’s disease.

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