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News Release
Researchers funded by NHGRI’s Genome Technology Program include a wide range of investigators with a variety of scientific expertise.
… , to probe intricate cellular details of the mouse brain and how immune cells change in different environments …
Fact Sheets
A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.
… codes for a protein that normally suppresses the growth of tumors by arresting cell division. Humans born with mutations … with more than half of human cancers and often lead to tumors in a particular set of tissues. However, when the p53 gene is knocked out in mice, the animals develop tumors in a different array of tissues.Despite these …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… University of Michigan for the study of sarcomas and solid tumors and then joined the National Human Genome Research … of the Hippocampal Transcriptome Following Mild Traumatic Brain Injury After Controlled Cortical Impact in the Rat. J …
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
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… BRAF -targeted therapy strategies," they added. Canine tumors carrying the mutation also offer a new environment for … high frequency of the mutation, examination of the dog tumors might enable us to determine why this particular …
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… methylation reprogramming in testicular germ cell tumors . Genome Res, 26(11):1490-1504. 2016. Li J, Woods SL, …
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 …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.