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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium2
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… Judith Wyatt … Dr. William Gahl, clinical director at the National Human Genome Research … Lecture on March 23 in Phoenix for the March of Dimes Clinical Genetics Conference, he wanted to inspire. "As … established in 2014. The UDN has created a network of clinical centers that receives patient applications, reviews …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… how rapidly the use of genome sequencing has moved into clinical practice," said NHGRI Director Eric D. Green, M.D., … Several thousand physicians already have ordered clinical genome or exome sequencing (CGES) for their … in 2014, tens of thousands of patients would be getting clinical genome and exome sequencing." Exome sequencing …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… Dr. Biesecker is a clinical and molecular geneticist and is the chief of the … in pediatrics at the University of Wisconsin, and in clinical and molecular genetics at the University of … the interpretation and return of results. He co-directs a Clinical Laboratory Improvement Ammendments (CLIA)-certified …
Event
NHGRI is conducting three Zoom-based listening sessions to help gather information from the national medical genetics community regarding the current and future state of the medical geneticist workforce.
… community regarding the current and future state of the clinical geneticist workforce. We will conduct these sessions … views regarding key challenges and potential solutions in clinical genetics and genomics, as well as to determine … times are in ET. Request an Accommodation … Virtual … The Clinical Geneticist Workforce: Challenges and Opportunities … …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by … Division of Rare Diseases Research Innovation) and the NIH Clinical Center. … A longstanding medical condition that … be considered undiagnosed and may be of interest to this clinical research program. Of the total number of cases that …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the Molecular Neurogenetics Section, is a pediatrician and clinical geneticist in the Medical Genetics Branch of the … University, and completed fellowship training in clinical genetics at the NIH Genetics Training Program. Dr. … and a section chief since 2000. Her research includes both clinical and basic research aspects of Gaucher disease and …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Human Genome Research Institute where she serves as deputy clinical director and directs the Pediatric Undiagnosed … and undiagnosed diseases.  For many years, Dr. Tifft's clinical and research interests have been lysosomal disorders … Diseases Program, Dr. Tifft coordinates the selection and clinical evaluation of children whose diagnoses have long …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
… Raymond MacDougall … Clinical applications of genomics in neurology and psychiatry … the importance of translating genomic science into clinical care. "Physicians are inspired by genomics but need … genomics of neurology and psychiatry begin this spring … Clinical applications of genomics in neurology and psychiatry …
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… now have access to a variety of educational and clinical genomics resources thanks to a new partnership … Society of Genetic Counselors , the American College of Clinical Pharmacy , and The Jackson Laboratory are the first … now have access to a range of educational and clinical genomics resources on the Genetics/Genomics …
Careers and Training
NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with genomic medicine training.
… NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare … knowledge about genomic medicine, genome technologies and clinical applications, and ethical, legal and social issues … providers to integrate polygenic risk scores into clinical care Lead Investigator for Project: Wendy Chung, …