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- Genome Technology Program1
- 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
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)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 …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… physician at Children's National Hospital, as the Clinical Director of the Neurofibromatosis type 1 (NF1) … Tifft. … Her main area of professional interest is in the clinical and translational research of neurodevelopmental … and methodological adaptations for very small clinical trials will advance the access and evaluation of therapeutic …
For Patients and Families
The partnership engages communities on genomics, informs and shares perspectives, and impacts the focus of research.
… Analyst, Office of the Director Jean Jenkins, Ph.D., Clinical Advisor, Division of Policy, Communications and … ​ … Genomics Education, Health Disparities, Genomics 101, Clinical Trials In Genomics … The partnership engages communities on …
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 …
The Informed Consent Resource
Explore the basic elements of informed consent that are required by the Common Rule and that are relevant to genomics.
… such as collecting blood or other tissue samples. In clinical trials guided by genetic information, additional risks could … and scarring at the biopsy site (always). If part of your clinical tissue biopsy is used for research, there will be no …
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… on the team. … Participating in a research study or clinical trial can at times be another option when searching … individuals to make a diagnosis. Alternatively, clinical trials or studies may be looking at the …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… health care team. … Participating in a research study or clinical trial can at times be another option when searching … with the goal of making a diagnosis. Alternatively, clinical trials or studies may be looking at the effectiveness of …
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 … …
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 …