A population of Amerindian hunter-gatherers, who until recently had lived in isolation in the remote Venezuelan Amazon, is yielding a trove of information for scientists at Mount Sinai who are studying their microbiome and finding the most diverse levels of bacteria and bacteria-encoded functions ever discovered in humans. The human microbiome—comprised of trillions of microorganisms that inhabit our bodies—is believed to play a critical role in the well-being of the host. Read more
Researchers from Icahn School of Medicine at Mount Sinai, participating in the largest genetic study yet on obesity, have helped uncover stronger links between genes and body weight and body fat distribution.
The trailblazing discoveries were published in two companion papers in the February issue of the journal Nature, and were the result of a four-year international research project conducted by the Genetic Investigation of Anthropometric Traits (GIANT) consortium. Other key participating institutions included the Broad Institute of the Massachusetts Institute of Technology and Harvard University, the University of Michigan Health System, and the University of North Carolina School of Medicine. Read more
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.
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.
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.
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.
A team of researchers at The Mount Sinai Medical Center and elsewhere recently discovered a causative gene for primary torsion dystonia (PTD), which sheds light on the genetic underpinnings of this debilitating movement disorder that affects an estimated 500,000 adults and children in North America. PTD is characterized by repetitive twisting muscle contractions throughout the body.
The findings—which appear in the December 9, 2012, issue of Nature Genetics—identified the gene GNAL after exome sequencing was performed on two families with PTD. Further investigation into GNAL revealed six additional mutations of the gene. Exome sequencing is an effective, less expensive alternative to whole genome sequencing.