Search Results
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… The National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will … understanding the genomic bases of common and rare human diseases. … sequencing to explore the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. …
Talking Glossary
Understand the terms and concepts used in genetic research
… Genetic Ancestry … Genetic ancestry refers to information about the people that an individual is biologically descended from, including their genetic relationships. … Genetic ancestry refers to information about the people that an individual is biologically descended from, …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… Over the past year, the Intramural Research Program of the … Research Institute (NHGRI) has been reorganized. As part of this reorganization, the Center for Research on Genomics … between CRGGH and other MCIDGB groups, including those of Dan Kastner , Gary Gibbons , and Sharon Davis . As part of …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … performed on newborn babies to detect a wide variety of disorders. … Newborn Screening, Genetic Disorder, Family Health History, Genetic Counselor, Healthcare … tests performed on newborn babies to detect a set of known genetic diseases. Typically, this testing is performed on a …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… The Combined Pediatrics and Medical Genetics Residency … the diagnosis, management, and counseling of patients with genetic disorders. Combined residents gain broad experience … in pediatrics, clinical and molecular genetics, metabolic diseases, and cytogenetics. Trainees spend approximately 50% …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
… In collaboration with the UMDF, the NIH Metabolism, Infection and Immunity (MINI) Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. … receive immune therapies and some do not. The purpose of this study is to understand how widespread these therapies …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… For the first time, National Institutes of Health (NIH) … The gene therapy involved inserting a functional copy of the NPC1 gene into mice with the disease; the treated … William J. Pavan, Ph.D., senior investigator in the NHGRI Genetic Disease Research Branch. "The gene therapy is …
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.
… Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA … Genetics is the branch of biology concerned with the study of … Genetics is the branch of biology concerned with the study of inheritance, including …
Fact Sheet
Sickle cell disease resources for patients
… The Democratizing Education Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email … only. They are meant to promote your general understanding of gene therapy for sickle cell disease. We encourage you to … What is Sickle Cell Disease?   National Institutes of Health (NIH)  About Sickle Cell Disease   Centers for …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… In the first study of its kind, researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease … the success of clinical trials and implementation of new genetic curative therapies, into clinical treatment," said …