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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Molecular Autism receives highest Impact Factor

On July 29, 2014, Thomson Reuters awarded an Impact Factor of 5.486 to the open access journal Molecular Autism. This represents the highest Impact Factor for any journal dedicated to autism or related neurodevelopmental conditions.

The journal was created in 2010, by Professor Joseph Buxbaum, Director of the Seaver Autism Center and Professor of Psychiatry, Neuroscience, and Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai, and Professor Simon Baron-Cohen, Director of the Autism Research Centre at the University of Cambridge. The goal of the journal was to provide an outlet for the volume of exciting genetic and other molecular autism research papers, and to make this cutting-edge autism research available freely via open access. In the past four years, Molecular Autism has grown and now publishes approximately five articles per month.

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Restoring fading memories

Research in Mark Baxter’s laboratory, the Glickenhaus Laboratory of Neuropsychology, focuses on the neural systems underlying memory and other higher cognitive functions, and understanding how disturbances in these systems impair cognitive function in brain disorders. Our general approach is to study the effects on behavior of specific manipulations of neural circuits in animal models, to gain insight into how similar disruptions in human disease may be responsible for cognitive impairment.

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Making an Old Brain More Plastic

We all know that it is easier to learn a new language or musical instrument as a child rather than in adulthood. At no other time in life does the surrounding environment so potently shape brain function – from basic motor skills and sensation to higher cognitive processes like language – than it does during childhood. This experience-dependent process occurs at distinct time windows called “critical periods”, which are times of great opportunity but also of great vulnerability for the developing brain. Early disruption of proper sensory or social experiences will result in mis-wired circuits that will respond sub-optimally to normal experiences in the future. Comparable effects are also seen for the development of vision, where if a child’s binocular vision is compromised and not corrected before the age of eight, amblyopia (‘lazy eye’) is permanent and irreversible.

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Thinking Microglia

For most of us the word brain is synonymous with nerve cells or neurons. All of us are well familiar with the notion of the brain as a mega-computer where billions of neurons govern our life, from simplest tasks to the rare moments of discoveries. It may appear surprising to hear that the function of brain and neurons would not be possible without cells that do not participate in our thinking directly. Instead, these cells, that are called microglia, function as watchdogs of neuron’s functionality and health and remove neurons that stop acting properly.

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That Other Type of Stem Cell Research

What is the future of stem cell research? Embryonic cells were once so controversial that President George W. Bush limited federal funding in 2001 (a policy that was overturned by President Obama in 2009). Now there is a new type of stem cell, similar to embryonic stem cells, called induced pluripotent stem cells.  We’ve all heard the claims concerning the extraordinary potential of stem cells (be they embryonic or induced) in the treatment of human disease. What will be the first commonly used stem cell therapy?

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Leadership in Scientific Education

The Graduate School of Biomedical Sciences has been training many of our nation’s finest scientists for more than four decades and inspiring them to translate their discoveries into effective treatments for human diseases.

Today, Mount Sinai is a leader in bringing “big data” to biomedical sciences, both in our laboratories and in our classrooms. By connecting with the Icahn Institute for Genomics and Multiscale Biology, the Graduate School has developed innovative courses that teach students how to use the new frontier of computational genomics in the laboratory setting. Many of our most devastating diseases are due to complex changes in our genes and how they interact with our environment. Our students learn how to embrace this complexity.

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Brain Awareness Fair

Have you ever had fun getting dizzy by spinning around? Ever thought of what ears have to do with getting dizzy? Ears are for hearing, right?

When you have a stuffy nose, whatever you eat seems bland and tasteless. What does your nose have to do with taste? We taste food with our tongues and our noses are for smelling, right?

These are just a few of the many complex concepts of how the brain and other parts of our bodies coordinate to keep functioning. Through easy-to-understand demonstrations and activities, these and several other complexities of the brain were adeptly simplified and communicated to our young visitors at Mount Sinai by members of Sinai Neuroscience Outreach Program (SNOP) and their volunteers during the first “Brain Awareness Fair” on March 12th, 2013.

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Is Marijuana Harmless?

Marijuana (Cannabis sativa) is the illicit drug most commonly used by teenagers in the United States. Although cannabis is not as addictive as other substances, such as heroin and cocaine, cannabis-dependent individuals still greatly outnumber those reporting dependence on other illicit drugs and the number of people seeking treatment for cannabis dependence continues to increase yearly. Despite these facts, there is a growing perception, particularly in adolescents and young adults, that cannabis is ‘harmless’ and there is currently much debate as to whether cannabis should be legalized. Unfortunately, most of the discussion and policies being made regarding cannabis have been done without significant consideration of scientific data. Our studies directly address the question regarding the long-term impact on the brain as a consequence of cannabis exposure during adolescence, a period of dynamic brain development.

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