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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… little significance alone, but together they increase the genetic risk for certain symptoms of the disorder. The more ADHD related genetic variations a person has, the more likely they are to … in isolation. Adding them all up can provide you with a 'genetic risk score' (called the polygenic risk score) that …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… heritability from common diseases associated with common genetic variants to rare diseases associated with rare … that are not inherited and instead are due to new genetic mutations and somatic mosaicism. CPHR investigators … at a basic research level, in which investigators use genetic variation to identify pathways that can be targets …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… at NHGRI, where she sees patients with a variety of genetic and metabolic disorders, providing care in both … include expanding the phenotype for rare diseases and genetic syndromes. She is also active in residency education … , Introne WJ, Wang JA, O'Brien KJ, Huizing M, Gochuico BR. Genetic variants associated with Hermansky-Pudlak syndrome . …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… to 200,000 babies are born with GM1 gangliosidosis, a genetic disorder caused by alterations in the DNA of a single … skills, cognition and communication.  Because most rare genetic disorders are due to a single faulty gene, gene … Dr. Tifft hopes to use gene therapy to treat other rare genetic disorders, such as Tay-Sachs disease — a fatal …
Clinical Research
The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
… . This study aims to learn more about the genetic contributions to the severity of COVID-19. We hope to … Study … The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19. … … The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19. …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… and uniformity provides an exceptional opportunity for genetic dissection of biological processes, her lab has … lab is focused on three primary regions of canine genetic research: drivers of behavioral and morphological … infrastructure we developed for the dog to identify genetic and genomic inheritance patterns relevant to our …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… in the family, the NIH group did not at first suspect a genetic cause, and treated the patient with immunosuppressive … by her sixth birthday-they began to suspect a common genetic cause and embarked on a medical odyssey that has led … onset suggested to us that the patients were born with a genetic condition," Dr. Kastner said. "We used a whole-exome …
Research at NHGRI
The Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders.
… and function contribute to health by exploring the genetic, epigenetic and metagenomic basis of human disorders. … microorganisms that live on humans and animal models of genetic disease. TFGB investigators catalyze technology … Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders. …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… to the belly for testing their fetuses for a range of genetic disorders. This non-invasive blood test, combined … journal Prenatal Diagnosis . "Because there are too few genetic counselors, OB/GYNs will be called on to communicate fetal genetic information to parents," said Benjamin Berkman, J.D., …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… a research program focused on using genomic tools and genetic manipulation of model systems to decipher genome … will be revealed through the application of advanced genetic and genomic approaches to the study of mouse genetic mutants that model human disease traits. The section …