Genetic diseases affect millions of Americans every day, and research is key to improving our ability to diagnose and treat these diseases. At the National Human Genome Research Institute, our researchers are creating foundational tools and methods to expand genomics research, ultimately leading to medical breakthroughs.
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.
The goal of our Caregiving Study is to understand how caregivers manage the demands of caring for a loved one with a long-term health condition and how social relationships affect caregivers' ability to cope.
A photo atlas of individuals from diverse populations who are affected by malformation syndromes.
A central repository for information regarding mutations and polymorphisms in breast cancer susceptibility genes.
A manually-curated database of all conditions with known genetic causes, focusing on the utility of genetic/genomic diagnosis and the availability of disease-specific interventions.
An NHGRI-funded research project that helps you and your family learn how your family health history affects your risk for diseases.
An annotated collection of non-redundant protein sequences, three-dimensional structures, and genomic information for the homeodomain protein family.
Access to preliminary sequence data and related information on Hydractinia, a model system for the study of fundamental biological processes.
Standardized terms used to describe human morphology developed by an international group of clinicians working in the field of dysmorphology.
Access to the annotated Mnemiopsis genomic sequence, the first set of publicly available whole-genome sequencing data from any ctenophore species.
A large, multi-disciplinary research collaboration to examine the effects of genetic susceptibility testing for several common health conditions.
Information for researchers and dog owners interested in finding the genetic basis of morphologic traits, behaviors, or diseases in the domestic dog.
Information for professionals and families caring for or affected by Pallister-Hall Syndrome.
A centralized, comprehensive resource of published scientific data relevant to pigment cell biology.
A database containing confirmed mutations to inherited disorders of the erythrocyte membrane associated with hemolytic anemia.
Last updated: October 26, 2020