Search Results
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… Jojo in 2016. Jojo and her mother, Lei, arrived at the NIH Clinical Center with their tea set when they volunteered to … that they were ready to test the treatment on humans in a clinical trial. Now, Edwards, Martin, Sena-Esteves, and … would be a huge success and enough to move from the clinical trial phase to a new drug approval in two years. …
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… that aims to accelerate the use of genome sequencing in clinical care. The new awards will generate innovative … centers. … The research is being funded as part of the Clinical Sequencing Evidence-Generating Research (CSER2) Consortium. CSER2 builds upon the Clinical Sequencing Exploratory Research (CSER) Consortium , …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… research in the field of genetic counseling and provides clinical rotations for students to learn directly about … and the role of the professional genetic counselor. … Clinical rotations begin in the second quarter of the program … adult, pediatric, prenatal and specialty genetic clinical training sites in the Baltimore-Washington area. In …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia … of age. Be able to travel to and be admitted to the NIH Clinical Center in Bethesda, Maryland for 4 to 5 days each … and/or homocysteine levels in the blood and/or urine, and clinical history. Dr. Venditti will determine patient …
Research at NHGRI
The NHGRI Office of the Clinical Director supports world-class clinical research and enhances the education of genetics investigators at all levels.
… The Office of the Clinical Director (OCD) provides oversight and guidance to … on the following areas: Providing and overseeing expert clinical and administrative infrastructure and support for all NHGRI clinical research protocols, as well as basic science studies …
Fact Sheet
Currently, there are different gene therapy approaches available through clinical trials.
… materials to talk with your healthcare provider or a clinical trial team. … Blood stem cells and blood cell … are different gene therapy approaches available through clinical trials. … Currently, there are different gene therapy …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… information on only a few genomic variants is used in clinical practice. One factor that limits the clinical use of variant information is the lack of openly … their phenotypic and functional effects and other clinical information. ClinGen investigators are developing …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… Sarah A. Bates, M.S. … Clinical geneticist to lead NHGRI’s clinical genomics research efforts … The National Human … Solomon, M.D., to lead the institute’s intramural Clinical Research Program , which provides oversight and …
Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators
… that variants in 59 genes be returned to people undergoing clinical sequencing - this is frequently referred to as the … annotation and return of actionable secondary findings in clinical sequencing; contains the "ACMG 59 gene list"  … counseling for secondary findings look like? … Resources … Clinical Research Staff and Protocol Coordinators … Clinical …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… volunteers for the study. Each member of the study has a clinical visit and tests to look at heart health. Study … CLINSEQ®? Possible benefits to you may include: Free clinical testing, such as testing for cholesterol and … 6 to 7 tablespoons of blood taken. This blood is used for clinical and genetic testing.  EKG, Echocardiogram and CT …