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News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… General Hospital. She was looking at diseases of the brain. "I'm doing an autopsy on a patient with Parkinson's … Would you like me to send you a sample from this brain?" Sidransky recalls her saying. Because Gaucher disease is very rare, having a brain sample of an inflicted person was a real opportunity. …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… rare and fatal disorder of the central nervous system (the brain and spinal cord) that has no cure. The disease occurs … The accumulation of waste in the spleen, liver and brain causes progressive deterioration in the intellectual … cells and organs as possible, with a strong focus on the brain. To do this, they used a non-disease-causing virus …
Staff
Dr. Alexander Arguello is a program director in the NHGRI Division of Genome Sciences.
… Expression  (dGTEx) initiatives as well as the trans-NIH BRAIN Initiative Cell Atlas Network (BICAN) team. Dr. … scientific areas including the genetics and genomics of brain disorders. Dr. Arguello received his Ph.D. from …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… features), small head size (microcephaly) or structural brain malformations. … Diagnosis of autism is based on … symptoms. When physical features, small head size or brain malformations are present or there is a family history … autism have found irregularities in several regions of the brain. Other studies suggest that people with autism have …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
… to help these kids." The NIH defines ADHD as "a brain disorder marked by an ongoing pattern of inattention … A key aspect of Dr. Shaw's research involves studying the brain connectome. The connectome is made up of the … structural, and physical connections between different brain regions, allowing those regions to communicate and work …
Event
NHGRI and NICHD program staff will hold a pre-application interactive Q&A webinar for the Developmental Genotype-Tissue Expression Project funding opportunities and answer questions from prospective applicants.
… ELSI research is required. Would the BPC need to advise on brain dissection strategies, or other tissue selection … determine the best strategy. It depends on the number of brain sections that are dissected. It is expected that the BPC would have provisions to be able to do the expert brain dissections and be able to provide the tissues to the …
Staff
Dr. Edward Giniger is an adjunct investigator in NHGRI's Genetics and Molecular Biology Branch.
… Information processing in the brain is done by specialized neural circuits. Every neuron … almost certainly acts in construction of the human brain and nervous system. … Giniger, E. How do Rho family … in mushroom body neurons of the Drosophila central brain. J. Neurosci . 31:10451-62. 2011. [PubMed] Gates, M.A., …
Media Availability
New research provides a better understanding of some of the genetic and cellular changes in pathways and processes involved in Autism Spectrum Disorder.
… Synapses are the spaces between nerve cells over which brain messages must travel. Mutations in synaptic genes and … on and off, and the formation of neural connections in the brain. Transcription. Instructions embedded in genes must be … can affect a wide range of important processes in the brain, from controlling gene activity to transmitting …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
… genomic diversity of prostate cancers  (2015)  Peering at brain and skin cancers through a genomic lens, scientists … Cancer Genome Atlas Identifies Distinct Subtypes of Deadly Brain Cancer That May Lead to New Treatment Strategies … Atlas Reports First Results of Comprehensive Study of Brain Tumors  (2008)  The Cancer Genome Atlas Awards Funds …
Media Availability
Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… of mice and examined regulatory DNA and gene activity in brain and other tissue. They found that more than 80 percent … parent, they found that expression in 95 genes in the brain depended more on being inherited from one parent than … unexpectedly discovered that for thousands of genes in the brain, there was a slightly greater expression of genes …