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Brett Abrahams (born March 3, 1973) is an American geneticist and neuroscientist involved in the identification and subsequent functional characterization of the autism-related gene CNTNAP2 at UCLA. [1] [2] [3] [4] [5] [6] [7] Abrahams is an assistant professor at the Albert Einstein College of Medicine in New York City.
Publications in scientific journals including Cell , [7] Nature , [8] New England Journal of Medicine , [4] together with reviews in Nature Reviews Genetics [9] and the textbook Human Genetics: Problems & Approaches , [10] have been cited by others over 2,000 times. [11]
Work Abrahams has contributed to has made the Autism Speaks "Top Ten Research Advances" list in each of 2008, [2] [3] 2009, [8] 2010, [12] and 2011. [7]
Forkhead box protein P2 (FOXP2) is a protein that, in humans, is encoded by the FOXP2 gene. FOXP2 is a member of the forkhead box family of transcription factors, proteins that regulate gene expression by binding to DNA. It is expressed in the brain, heart, lungs and digestive system.
The heritability of autism is the proportion of differences in expression of autism that can be explained by genetic variation; if the heritability of a condition is high, then the condition is considered to be primarily genetic. Autism has a strong genetic basis, although the genetics of autism are complex and it is unclear whether autism spectrum disorder (ASD) is explained more by multigene interactions or by rare mutations with major effects.
22q13 deletion syndrome, also known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations (phenotype) typical of a terminal deletion may be diagnosed as 22q13 deletion syndrome. There is disagreement among researchers as to the exact definition of 22q13 deletion syndrome. The Developmental Synaptopathies Consortium defines PMS as being caused by SHANK3 mutations, a definition that appears to exclude terminal deletions. The requirement to include SHANK3 in the definition is supported by many but not by those who first described 22q13 deletion syndrome.
Michael Howard Wigler is an American molecular biologist who has directed a laboratory at Cold Spring Harbor Laboratory since 1978 and is a member of the National Academy of Sciences. He is best known for developing methods to genetically engineer animal cells and his contributions to cancer, genomics and autism genetics.
Integral membrane protein GPR155, also known as G protein-coupled receptor 155, is a protein that in humans is encoded by the GPR155 gene. Mutations in this gene may be associated with autism.
Homeobox protein Hox-A1 is a protein that in humans is encoded by the HOXA1 gene.
Myotilin is a protein that in humans is encoded by the MYOT gene. Myotilin also known as TTID is a muscle protein that is found within the Z-disc of sarcomeres.
Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene. Since the most recent reference human genome GRCh38, CNTNAP2 is the longest gene in the human genome
Chromodomain-helicase-DNA-binding protein 2 is an enzyme that in humans is encoded by the CHD2 gene.
Neuregulin 3, also known as NRG3, is a neural-enriched member of the neuregulin protein family which in humans is encoded by the NRG3 gene. The NRGs are a group of signaling proteins part of the superfamily of epidermal growth factor, EGF like polypeptide growth factor. These groups of proteins possess an 'EGF-like domain' that consists of six cysteine residues and three disulfide bridges predicted by the consensus sequence of the cysteine residues.
Christopher Paul Ponting is a British computational biologist, specializing in the evolution and function of genes and genomes. He is currently Chair of Medical Bioinformatics at the University of Edinburgh and group leader in the MRC Human Genetics Unit. He is also an Associate Faculty member of the Wellcome Trust Sanger Institute, a Fellow of the Academy of Medical Sciences, member of the European Molecular Biology Organisation and Fellow of the Royal Society of Edinburgh. His research focuses on long noncoding RNA function and evolution, on single cell biology and on disease genomics. Outside of science, Chris is an amateur novelist and wrote an unpublished, science fiction novel about engineered viruses.
Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome. These features include a tall, thin stature and long, slender limbs. LFS is also associated with psychopathology and behavioral abnormalities, and it exhibits a number of malformations affecting the brain and heart. The disorder is inherited in an X-linked dominant manner, and is attributed to a missense mutation in the MED12 gene. There is currently no treatment or therapy for the underlying MED12 malfunction, and the exact cause of the disorder remains unclear.
Genomic structural variation is the variation in structure of an organism's chromosome. It consists of many kinds of variation in the genome of one species, and usually includes microscopic and submicroscopic types, such as deletions, duplications, copy-number variants, insertions, inversions and translocations. Originally, a structure variation affects a sequence length about 1kb to 3Mb, which is larger than SNPs and smaller than chromosome abnormality. However, the operational range of structural variants has widened to include events > 50bp. The definition of structural variation does not imply anything about frequency or phenotypical effects. Many structural variants are associated with genetic diseases, however many are not. Recent research about SVs indicates that SVs are more difficult to detect than SNPs. Approximately 13% of the human genome is defined as structurally variant in the normal population, and there are at least 240 genes that exist as homozygous deletion polymorphisms in human populations, suggesting these genes are dispensable in humans. Rapidly accumulating evidence indicates that structural variations can comprise millions of nucleotides of heterogeneity within every genome, and are likely to make an important contribution to human diversity and disease susceptibility.
Ashley Van Zeeland is an American neuroscientist, focusing on genomics, genetics, and biotechnology in the fields of autism and anorexia nervosa. Her work on autism revealed that genetic variants were linked to different communication pathways within the brain, and her work related anorexia nervosa to an enzyme regulating cholesterol metabolism.
Martha Herbert is an American physician and assistant professor of neurology at Harvard Medical School and pediatric neurologist at Massachusetts General Hospital. Herbert is also director of the TRANSCEND program at the Athinoula A. Martinos Center for Biomedical Imaging.
Joseph D. Buxbaum is an American molecular and cellular neuroscientist, autism researcher, and the Director of the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai. Buxbaum is also, along with Simon Baron-Cohen, the co-editor of the BioMed Central journal Molecular Autism, and is a member of the scientific advisory board of the Autism Science Foundation. Buxbaum is a Professor of Psychiatry, Neuroscience, and Genetics and Genomic Sciences. He is also the Vice Chair for Research and for Mentoring in the Department of Psychiatry at the Icahn School of Medicine at Mount Sinai.
Arthur L. Beaudet is a founder and CEO of Luna Genetics. He is a past professor and chair of molecular and human genetics at Baylor College of Medicine. He was inducted into the Institute of Medicine in 1995, the Society of Scholars in 2008 and into the National Academy of Sciences in 2011.
DEAD-box helicase 53 is a protein that in humans is encoded by the DDX53 gene.
Protein-truncating variants (PTVs) are genetic variants predicted to shorten the coding sequence of genes, through ways like a stop-gain mutation. PTV is sometime categorized under the umbrella term frameshift or truncating variants (FTVs), which includes both PTVs and DNA variants caused by frameshift mutation.