Search Results
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project utilizes a deliberative stakeholder-engagement approach to develop patient educational materials for sickle cell disease gene therapy.
… It is imperative that patients with sickle cell disease who are considering gene therapy fully understand the meaning and limitations of treatments so they can make an informed … to participate. Patients need accessible, understandable, and actionable educational materials to help them make such …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… of research conducted by the Electronic Medical Records and Genomics (eMERGE) network is to better understand the … into EMRs The grants, administered by the National Human Genome Research Institute (NHGRI), represent the third phase … identifying the potential medical effects of rare genomic variants (inherited differences in the DNA code) in about 100 …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… Jeannine Mjoseth … People with sickle cell disease (SCD) can experience excruciating pain all over their bodies, kidney problems, higher risk of stroke and in rare cases, chronic leg ulcers. These and other … from person to person. … Researchers at the National Human Genome Research Institute (NHGRI) are seeking help from …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… In a new study, researchers at the National Human Genome Research Institute (NHGRI) have generated the largest catalog of genetic variants associated with physical traits for domesticated dog … if variants associated with dog body structure, behavior and life span could also be implicated in related human …
News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… support research to identify differences - called genetic variants - in the less-studied regions of the genome that are responsible for regulating gene activity. A … the specific variants that play a role in the disease and to define what that role is. The new awards, funded by …
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.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic … in different tissues, leading to hematological, skeletal, and neurological manifestations seen in patients with Gaucher … coding for the enzyme glucocerebrosidase is called GBA1 and is located in chromosome 1. While there is only one gene …
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… Ph.D. … NHGRI researchers work with patients, families and the scientific community to improve the informed consent … … As public interest and expanded research in human genome editing grows, many questions remain about ethical, … asked patients, parents and physicians in the sickle cell disease community what they wanted and needed to know about …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… Collaborative effort aims to help patients and their support networks navigate emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell … are now available from researchers at the National Human Genome Research Institute (NHGRI), part of the National …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… to other peoples’ DNA.  There are multiple types of variants in human genomes, ranging from small differences to … subset of genomic variants contributes to human health and disease.  Researchers create reference human genome sequences to help detect genomic variants in each …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… 8:00 - 8:30 a.m. Registration 8:30 - 8:40 a.m. Welcome and Introduction Eric Green 8:40 - 9:00 a.m. Statement of … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of … Madison Room ) Determining the functional consequences of variants acting individually and in combination Co-Chairs: …