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The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… the clinical relevance or validity of genes in genetic disorders for use in precision medicine and research. A … genes reported to be associated with long QT syndrome, a congenital heart condition that predisposes patients to … Research Genomics experts dispute nine genes linked to congenital heart condition Notable accomplishments in genomic …
Staff
Dr. Philip Shaw was an investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… ] Shaw P, Gogtay N, Rapoport JL. Childhood psychiatric disorders as anomalies in neurodevelopmental trajectories . …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases. He … of the second and third known patients in the world with congenital disorder of glycosylation 2b, in which … G, ten Bosch JW, Anikster Y, Klein C, Gahl WA, Somech R. A congenital neutrophil defect syndrome associated with …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis Tenney et al. Nature Genetics . 2023 Jun;55, 1149–1163 PMC10335940  Hereditary congenital facial paresis type 1 (HCFP1) is rare disorder in …
The Genomics Landscape
In the December 2024 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the keynote speaker at the institute's annual symposium, Kate Rubins, a biologist and NASA astronaut who was the first person to sequence DNA in space.
… these regions may also provide insight to other disorders related to nutritional stress, such as cancer. …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Adult Endocrinology Alcohol Use Disorders Biomedical Informatics Cardiology Clinical … … Learning about the care of patients with rare or complex disorders enrolled in human subjects research protocols at … Learn about genomic sequencing and management of genetic disorders Participate in supervised clinical, laboratory, …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… of Outcomes in Purine and Pyrimidine Metabolism Disorders P127 Where Epigenetics, Cancer and Hypoxia meet … GM1 Gangliosidosis: New Biomarker for Neurodegenerative Disorders P204 Primary Care Electronic Medical Record … Environment and Genes Study: Reduced Return in Disorders with Autosomal Recessive Inheritance Pattern P555 …
The Genomics Landscape
In the March 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new fact sheets produced by the institute's Communications and Public Liaison Branch.
… Mendelian Genomics, Whole Genome Sequencing in Psychiatric Disorders, Convergent Neuroscience, the Genotype-Tissue …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Learn about genomic sequencing and management of genetic disorders Participate in supervised clinical, laboratory, … Elective Rotations: Adult Endocrinology Alcohol Use Disorders/Addiction Medicine Allergy and Immunology …