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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 …
Clinical Research
The Metabolism, Infection and Immunity (MINI) Section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … with mitochondrial disease can lead to worsening clinical symptoms, particularly neurologic symptoms.   … History Study of Children with Mitochondrial Disease NIH Clinical Center   Household Viral Exposure in Children with …
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 … NIH Office of Rare Diseases Research (ORDR) 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 …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… from home. If you are seeking some virtual connections to genomics, I would like to offer some “remote learning” … In 2012, she provided founding leadership for the Clinical Genome (ClinGen) Resource, an authoritative central resource to define the clinical relevance of genes and variants for use in precision …
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. … of parkinsonism. In collaboration with the NIH Chemical Genomics Center, hundred-thousands of small molecules were …
Research at NHGRI
The NHGRI Intramural Research Award recognizes research achievements by trainees in basic, clinical, and social behavioral science research.
… the NHGRI Intramural Research Program, including basic, clinical, and social behavioral science research. To date, … who continue to make valuable contributions in the area of genomics and related fields. Our well-deserving recipients … recognizes research achievements by trainees in basic, clinical, and social behavioral science research. … NHGRI …
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
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet … (NIH).   Thanks to her aunt, Emily found the NIH RUNX1-FPD clinical research study , which takes a detailed look at the … investigator within the Translational and Functional Genomics Branch at the National Human Genome Research …
For Patients and Families
The partnership engages communities on genomics, informs and shares perspectives, and impacts the focus of research.
… The Partnership for Community Outreach and Engagement in Genomics brings together community liaisons and health … 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 …
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… (ASHG) members have selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and long-time investigator … … As the senior investigator and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, Dr. Biesecker leads a … ASHG … ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with …