Study Reveals Common Genetic Changes Are Significant in Autism

Genetic changes are responsible for roughly 60 percent of the risk for autism, and most of these variants are commonly found in the general population, according to a groundbreaking study led by Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center for Research and Treatment, and Professor of Psychiatry, Neuroscience, and Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai.

The remaining nongenetic factors that account for roughly 40 percent of the risk for autism are not known. However, environmental factors and the interaction between genes and the environment may be a part of these nongenetic factors, says Dr. Buxbaum, the G. Harold and Leila Y. Mathers Research Professor of Geriatrics and Adult Development at Icahn School of Medicine.

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Reducing Sepsis Mortality Rates

A novel program implemented across the Emergency Department and all inpatient units at The Mount Sinai Hospital is being credited with helping the hospital achieve a three-year reduction in sepsis mortality.

The “Stop Sepsis Program” is based upon a project developed in 2011 by the Department of Emergency Medicine and the Division of Pulmonary, Critical Care and Sleep Medicine to enhance the early identification and management of patients with suspected sepsis, a condition that results from infection and can quickly become life-threatening when it impairs blood flow to organs.

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Mount Sinai to Open Kidney Stone Center

A comprehensive outpatient Kidney Stone Center, which will offer patients new minimally invasive techniques and a holistic approach to prevention, will be the first of its kind in New York City when it opens this fall in two Manhattan locations.

The Center will be headed by Mantu Gupta, MD, who was recently named Director of Endourology and Stone Disease for the Mount Sinai Health System, Chair of Urology at Mount Sinai Roosevelt and Mount Sinai St. Luke’s, and Professor of Urology.

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Teaching Heart-Healthy Habits to High-Risk Children and Families

Icahn School of Medicine at Mount Sinai has received a $3.8 million grant from the American Heart Association (AHA) to promote cardiovascular health through early education and intervention programs targeting high-risk children and their parents in Harlem and the Bronx.

Mount Sinai researchers will study the genes and lifestyles of 600 preschoolers and their parents or guardians who live in these communities, which are associated with high rates of obesity, cardiovascular disease, stroke, and type 2 diabetes. The investigators will track whether the interventions lead to healthier eating habits and additional exercise. They will also examine the participants’ DNA and RNA to understand how genetics plays a role in the development of cardiovascular disease.

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Young Patients Help Design Reception Area

Pediatric patients and their families recently joined artist and designer Edin Rudic in creating a new interior wall design for the Food for Life program in the Mount Sinai Health System’s Clinic for Inherited Metabolic Diseases. Mr. Rudic donated his services to create the new design located in the reception area of the Medical Genetics Clinic. It incorporates a high-definition screen display of patient photos, and specially coated walls on which children can draw, adding fun to their hospital visits.

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New Research Refutes Long-Held Antiviral Theory

A long-standing belief that mammals use the same potent antiviral molecules deployed by plants and invertebrates is being challenged by researchers at Icahn School of Medicine at Mount Sinai.

Their findings, published in the July 10, 2014, issue of Cell Reports, surprised many scientists who assumed that antiviral RNA Interference (RNAi) exists in humans as a natural result of evolution.

Scientists know that human cells, like cells in every living organism with a nucleus, encode and generate small RNAs, which influence our genetics. It is also known that mammals combat viruses with interferons—proteins manufactured by immune cells in response to pathogens.

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