Search Results
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… EHOD Collaboration Martina Huemer, M.D. 1:30 - 2:00 p.m. Newborn Screening for HCU Marzia Pasquali, Ph.D. 2:00 - 2:30 p.m. …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… with the goal of advancing noninvasive prenatal DNA screening and diagnosis and investigating the fetal … of her research and contributions to genetics and newborn care.  The 2017 J.E. Wallace Sterling Lifetime … prenatal testing (NIPT) - has revolutionized prenatal screening and diagnosis for fetal chromosome abnormalities. …
Research Funding
NHGRI's programs and projects support research in one of six domains to advance the field of genomics and improve human health.
… Project (modENCODE) Molecular Libraries Program (MLP) Newborn Sequencing in Genomic Medicine and Public Health …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… P.J., Sunny, S., Cohen-Pfeffer, J.L., Yu, C., Caggana, M. Newborn screening and early biochemical follow-up in combined … cblC type, and utility of methionine as a secondary screening analyte. Mol Genet Metab , 99:116-123 . 2010. [ …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… anemia and cystic fibrosis are inherited in families, what screening and testing options are available, and, for some …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… Lewis Return of research results from samples obtained for newborn screening R21 University of California, San Francisco Gloria …
News Release
Celebrating 30 years of genomics that has transformed our understanding of life and improved health.
… a genome sequence at the click of a mouse, performing newborn genome sequencing in an intensive care unit or the … a genome sequence at the click of a mouse, performing newborn genome sequencing in an intensive care unit or the …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Asian, Chinese and Filipino ancestry, results in fetal or newborn death. A child who inherits two copies of the mutated …
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… on individual health outcomes, including lifestyle and screening behaviors. One of the section's major findings is … LM. Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion …