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News Release
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… are known to affect organs such as the heart, liver, and brain, less is known how they affect the immune system. Using …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… and body. Having too much phenylalanine can cause brain damage unless diet treatment is started. Additional …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… well as studies utilizing cells, animal models and human brain samples. With funding from the NIH Center for … W. Glucocerebrosidase is shaking up the synucleinopathies. Brain , 137:1304-22 2014. [ PubMed ] Nalls MA, Duran R, Lopez … parkinsonism: A PET study of dopamine synthesis and rCBF. Brain , 135:2440-8. 2012. [ PubMed ] Mazzulli JR, Xu YH, Sun …
News Release
Researchers funded by NIH have completed a detailed atlas documenting stretches of human DNA that influence gene expression.
… data from more than 53 different tissue types (including brain, liver and lung) from autopsy, organ donation and …
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… how immune response triggered by COVID-19 may damage the brain Genomics Videos Healthcare Professionals' Genomics …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
… across the entire genome, though their main focus is on brain regions that are important in schizophrenia, depression … longer telomeres may actually increase the risk for deadly brain cancers called gliomas. To better determine the role of …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… Cystic Fibrosis ); Huntington's disease, which affects the brain and nervous system (See: Learning About Huntington's …
News Release
NIH will award $38.5 million over five years to the Developmental Genotype-Tissue Expression (dGTEx) project, which aims to build a widely available resource of human developmental gene expression in a multitude of tissues for use in basic and clinical research.
… fund the procurement and genomic analyses of developmental brain tissues. The NICHD award will establish a Biospecimen …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… decompression is performed to decrease pressure on the brain. Children who have achondroplasia need careful …