Search Results
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 the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases … individuals (patients and family members); whole-exome sequencing analyses performed for approximately 900 …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… develop methods for incorporating genomic information into clinical care and explore the methods for effective … implementation, diffusion, and sustainability in diverse clinical settings. The first phase of the network, IGNITE I … of Chicago Mary Relling, PharmD, St. Jude Children’s Research Hospital Jordan Smoller, MD, ScD, Massachusetts …
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… D. Green, M.D., Ph.D. Session 1: Making the case for a clinical genomic informatics research strategy Co-Moderators: Rex L. Chisholm, Ph.D. … informatics resources to support Precision Oncology & Evidence Presenter: Subha Madhavan, Ph.D.  Integration of …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Further understanding of this risk is a main focus of research of our team. … Ongoing, currently recruiting: … P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher … (301) 827-1877 For Basic Research, Collaboration or Clinical Trials: Ellen Sidransky, M.D. …
Research at NHGRI
A list of scientific and clinical research investigators at NHGRI.
… Cores … Adjunct Investigators … Scientist Emeriti … Research Investigators … A list of scientific and clinical research investigators at the National Human Genome Research Institute. … A list of scientific and clinical research investigators at NHGRI. … Research at NHGRI …
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… and the field of genomics.  … After ~16 years as Clinical Director within NHGRI's Intramural Research Program, … well as genomic experts and technologies (including genome sequencing) to the program. As one of his UDP highlights, … and Genomics (eMERGE) Network & Clinical Sequencing Evidence-Generating Research (CSER): Genomics and Medicine …
Educational Resources
Shotgun sequencing is a laboratory technique for determining the DNA sequence of an organism's genome.
… Shotgun Sequencing … Shotgun sequencing is a laboratory technique for determining the DNA … an organism's genome. … Deoxyribonucleic Acid (DNA), DNA Sequencing, Genome, Human Genome Project … Shotgun sequencing …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… Sheena Faherty, Ph.D. … The National Human Genome Research Institute (NHGRI) has appointed Carolyn Hutter, … a research portfolio focused on epidemiology and genome sequencing, which included grants in the Clinical Sequencing Exploratory Research (CSER) program. She …
15 Ways Genomics Influences Our World
Advances in genomics are reducing the cost of genome sequencing by a million-fold.
… Advances in genomics are reducing the cost of genome sequencing by a million-fold. … Did you know that your genome …  Resources for Educators: Career Profile: Laboratory Research Assistant or Technician  | Video Learn.Genetics - … and Whole Genome Sequencing? The Jackson Laboratory - Clinical Education Resources on Genetics and Genomics Courses …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… mutations and variations and ranks them according to their clinical and biological relevance to a patient's cancer. … … Nature Medicine . Their work is supported by the Clinical Sequencing Exploratory Research program at the National Human Genome Research …