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- Genome Technology Program3
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Ethical, Legal and Social Implications (ELSI) Research Program1
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2020.
… 15 Technology Development Program RFA-HG-20-014 - Novel Synthetic Nucleic Acid Technology Development (R01) RFA-HG-20-015 - Novel Synthetic Nucleic Acid Technology Development (R21) RFA-HG-20-016 - Novel Synthetic Nucleic Acid Technology Development (R43/R44) …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… as a risk factor for parkinsonism. She has spearheaded two large international collaborative studies regarding the …
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… often have access to up-to-date testing and technology, a large group of other healthcare providers and specialists to …
Fact Sheet
Sickle cell disease resources for healthcare providers
Educational Resources
The term epigenome is derived from the Greek word epi which literally means "above" the genome.
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… the Library Core, he focused on employing genomic and cDNA libraries for genome research in genetic diseases. In 1993, … and transcript maps of the locus on 17q. The advent of large insert genomic libraries allowed the CGU to participate in physical mapping …
Staff
Dr. Michael Smith is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.
… topics of technologies for nucleic acid sequencing and synthetic nucleic acids. Dr. Smith earned Bachelor of Science …
Event
NHGRI hosts a virtual Q&A with science journalist Angela Saini, author of “Superior: The Return of Race Science” on Thursday, July 23, 2020.
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… technologies improve, new methods are required to make large-scale genomic edits. Such technologies would be … sequences and other portions of the genome that span large intervals. In a recent study, researchers devised a new and efficient method for making large-scale edits to the genomes of mouse embryonic stem …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… changing, but the methods currently being used look for large changes in the gene ( deletion/duplication ) and … blood pressure, behavior changes, and delayed growth. A synthetic form of prednisilone, called Deflazacort, is used …