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Research Projects

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.

Doctor patient consultation
Sickle cell disease gene therapy education project

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.

Caregiving Study
Caregiving Study

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.

Atlas of Human Malformation Syndromes in Diverse Populations

A photo atlas of individuals from diverse populations who are affected by malformation syndromes.

Breast Cancer Information Core (BIC)

A central repository for information regarding mutations and polymorphisms in breast cancer susceptibility genes.

Clinical Genomic Database (CGD)

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.


A curated database of validated CRISPR targets in zebrafish.

Families SHARE
Families SHARE

An NHGRI-funded research project that helps you and your family learn how your family health history affects your risk for diseases.

Man looking at proteins
Homeodomain Resource

An annotated collection of non-redundant protein sequences, three-dimensional structures, and genomic information for the homeodomain protein family.

Pattern of ACTGs
Hydractinia Genome Project Portal

Access to preliminary sequence data and related information on Hydractinia, a model system for the study of fundamental biological processes.

Limb Morphology Database

Standardized terms used to describe human morphology developed by an international group of clinicians working in the field of dysmorphology.

Mnemiopsis Genome Project Portal

Access to the annotated Mnemiopsis genomic sequence, the first set of publicly available whole-genome sequencing data from any ctenophore species.

Father and son
Multiplex Initiative

A large, multi-disciplinary research collaboration to examine the effects of genetic susceptibility testing for several common health conditions.

NHGRI Dog Genome Project

Information for researchers and dog owners interested in finding the genetic basis of morphologic traits, behaviors, or diseases in the domestic dog.

Pallister-Hall Syndrome

Information for professionals and families caring for or affected by Pallister-Hall Syndrome.

A woman's back
Pigment Cell Gene Resource

A centralized, comprehensive resource of published scientific data relevant to pigment cell biology.

Red Cell Membrane Disorder Mutations Database

A database containing confirmed mutations to inherited disorders of the erythrocyte membrane associated with hemolytic anemia.

Zebrafish Insertion Collection (ZInC)

A Web-based, searchable collection of zebrafish mutations generated by DNA insertion.

Last updated: October 26, 2020