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.
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.
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.
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.
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.
The Mount Sinai Hospital is one of three institutions in New York State, and one of one hundred in the nation, selected to study the safety and effectiveness of an implantable cranial nerve stimulation device for heart failure patients with debilitating fatigue, shortness of breath, and heart arrhythmias.
A recent NBC News article highlighted the importance of genetic research and the potential therapeutic application of histamine for individuals with Tourette Syndrome (TS). TS is a chronic neuropsychiatric disorder characterized by multiple motor and vocal tics. Onset of tics occurs before age 18 and is often associated with marked impairment and disability.
Mounting evidence suggests that age-related cognitive decline is caused not by nerve cell death, as it is in Alzheimer’s disease, but from a disruption in synapses, the structures that allow a nerve cell to transmit a signal to other nerve cells. Demonstrating these synaptic disruptions in the prefrontal cortex of the brain, and linking such disruptions to synaptic health, has been challenging for scientists—until now.