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News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… cases, the atypical results can be explained by benign tumors, autoimmune diseases, or blood abnormalities in the … Many of them had lymphoma and, in some cases, rare tumors. Often, the participants are in the early stages of … who were found to not have cancer, some had benign tumors in the uterus, known as fibroids; abnormal chromosomal …
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, …
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 …
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 …
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 …