Search Results
Event
The NHGRI Center for Precision Health Research sponsors a monthly series of talks by intramural and special guest speakers on research relevant to the use of genomic data and large-scale electronic health record information to improve health.
… The NHGRI Center for Precision Health Research (CPHR) sponsors a monthly series of talks by … details are updated as information becomes available. For more information, please contact Les Biesecker at email … Center for Precision Health Research Seminar Series … The NHGRI Center for Precision Health Research sponsors a monthly …
News Release
Researchers identified connections in the brain that children with attention deficit hyperactivity disorder (ADHD) may inherit from their parents.
… author and an investigator in the Social and Behavioral Research Branch at the National Human Genome Research … In the simplest terms, certain genes provide the blueprint for building the brain; the brain produces the symptoms of … and ranked them according to which were most likely to be inherited and play a role in ADHD. We're now asking which …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… Familial Mediterranean Fever (FMF) is an inherited disease, characterized by recurrent attacks of fever, … FMF is considered a rare disease worldwide. However, it is very common in people of … is highly variable, both among groups of patients or for any individual patient, with the interval between attacks …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. … Heart, Lung, and Blood Institute and the NIH Clinical Center, all part of NIH, along with their colleagues in … NHGRI. "The results have been amazing and life changing for these children and their families," said Daniel Kastner, …
Research at NHGRI
The NIH Intramural Sequencing Center is a multi-disciplinary genomics facility that emphasizes the generation and analysis of DNA sequence.
… The NIH Intramural Sequencing Center (NISC) , established in 1997, is a multi-disciplinary … procedures. NISC's role within the National Human Genome Research Institute (NHGRI), and more broadly across NIH, aims … with other investigators across the NHGRI Intramural Research Program to develop novel methods to analyze genomics …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… Dr. Doumatey is currently a Staff Scientist at the Center for Research on Genomics and Global Health (CRGGH), part of … The genomic landscape of African populations in health and disease. Hum Mol Genet. 2017 Oct 1;26(R2): R225-R236. doi: … study identifies African-ancestry specific variants for metabolic syndrome. Mol Genet Metab. 2015 Dec; …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… obvious cause - affects 1-2% of all children, accounting for about 40% of all hypertension diagnoses in children, and … Although a role for genetics in the development of the disease has been supported, it is unclear whether this … by more severe multisystem dysfunction. Despite decades of research, the underlying reasons why some children develop …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the … Retinitis pigmentosa (RP) is the name given to a group of inherited eye diseases that affect the retina (the … As the disease progresses and more rod cells breakdown, patients …
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… will support multiple clinical sites and a coordinating center with $75 million over five years. … the provision of $75 million in funding over five years for the Electronic Medical Records and Genomics (eMERGE) … existing eMERGE Network  to support both a coordinating center and clinical sites specifically focused on better …
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… methods as applied to mapping quantitative trait loci for obesity in model organisms. He contributed code to the R … predictive values. In 2008, Dr. Shriner joined the Center for Research on Genomics and Global Health within the … influence the risk of developing Alzheimer or Parkinson disease, the two most common neurodegenerative diseases. …