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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… Genetic professionals work as members of health care teams providing information and support to … disorders or may be at risk for inherited conditions. … Genetics professionals are health care professionals with … genetics nurses. … Genetic professionals work as members of health care teams providing information and support to …
Research Training
Two-year fellowships for M.D.s and Ph.D.s in cytogenetics, biochemical genetics and molecular genetics.
… The Laboratory Genetics and Genomics Fellowship Training Program is a … genetic tests important in the diagnosis and management of human genetic disorders. … To gain the requisite laboratory …
Professional Development
ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals wishing to transition to careers in genetics education and public engagement.
… genetics education and public engagement.   At the 2019 American Society of Human Genetics Annual Meeting, former fellow Dyanna …
Educational Resources
Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism.
… Genetic Engineering … Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism. … Genetic Engineering, Recombinant DNA, … uses laboratory-based technologies to alter the DNA makeup of an organism. This may involve changing a single base pair …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… The National Human Genome Research Institute (NHGRI) offers a three-year residency program in medical genetics that trains physicians to diagnose, manage and … genetics program; emphasizes clinical research, one of the few programs to do so; and grants access to the vast …
Educational Resources
A genetic marker is a DNA sequence with a known physical location on a chromosome.
… Genetic markers are used to track the inheritance of a nearby gene that has not yet been identified, but whose … location is known. The genetic marker itself may be a part of a gene or may have no known function. … A genetic marker …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… by which genetic changes affect the structure and function of gene products leading to human disease. … A major focus of the branch's research lies … factors contribute to disease. Our investigators use genetics and genomic approaches in both human and mouse …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… National Cancer Institute (NCI) at the National Institutes of Health (NIH) and the Department of Health, Behavior and Society at the Johns Hopkins University (JHU) Bloomberg … Society of Genetic Counselors - About Genetic Counselors American Society of Human Genetics American Board of Genetic …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.
… Advances in the field of genomics over the past quarter-century have led to … for many years (see Figure 1). With the growing scale of human genetics studies and the increasing number of clinical …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… the genetic factors that contribute to ADHD, with the hope of improving treatment for this condition in the future. … … are also believed to play a role in the disorder. One of the long-range goals of this study is to facilitate the diagnosis of ADHD and the …