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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Blazing a New Trail in the Treatment of Heart Disease

An injectable nanoparticle that delivers HMG-CoA reductase inhibitors, or statins, which directly inhibit atherosclerotic plaque inflammation could represent a new frontier in the treatment of heart disease. This novel approach is being developed by researchers at Icahn School of Medicine at Mount Sinai, who have seen promising results in mice models and plan to translate their findings to humans within the next few years.

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