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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.
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 …
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 …
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 …
Research Funding
The Division of Genomic Medicine promotes the NHGRI's efforts to advance the application of genomics to medical science and clinical care.
… (GENEVA) Implementing Genomics in Practice (IGNITE) Newborn Sequencing in Genomic Medicine and Public Health … filled … Genomic Medicine XV: Genomics and Population Screening November 8-9, 2023  Genomic Medicine XIV: Genomic … Phase III RFAs 2013 RFA-HD-13-010 Genomic Sequencing and Newborn Screening Disorders (U19) Release Date: August 9, …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… a continuum of excellence in care from fetal to newborn periods. They will also develop expertise on the most …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… they would normally be via surgical interventions in the newborn period. Individuals who have low calcium levels are …
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.
… the tools and programs necessary to implement universal screening for newborn hearing loss. Over the years, Jim has also been an …