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Researchers at the National Human Genome Research Institute (NHGRI) are working with patients and families to better understand of how genes can cause or influence diseases and develop new and more effective diagnostics and treatments.

Value of Clinical Studies

Clinical studies give us a better understanding of how genes can cause or influence diseases. NHGRI researchers are working with patients, and with families with a history of inherited diseases, to learn more about the genetic components of common and rare disorders, and to develop new and more effective tests and treatments.

Deciding whether to participate in a clinical study is an important and personal process. Some reasons people choose to participate include:

  • Participants in clinical studies help current and future generations. Through these studies, researchers develop new diagnostic tests, more effective treatments, and better ways of managing diseases with genetic components.
  • Participants in studies are actively involved in understanding their disorder and current research.
  • Participants in some studies gain access to new tests and treatments before they are widely available.
  • Value of Clinical Studies

    Clinical studies give us a better understanding of how genes can cause or influence diseases. NHGRI researchers are working with patients, and with families with a history of inherited diseases, to learn more about the genetic components of common and rare disorders, and to develop new and more effective tests and treatments.

    Deciding whether to participate in a clinical study is an important and personal process. Some reasons people choose to participate include:

    • Participants in clinical studies help current and future generations. Through these studies, researchers develop new diagnostic tests, more effective treatments, and better ways of managing diseases with genetic components.
    • Participants in studies are actively involved in understanding their disorder and current research.
    • Participants in some studies gain access to new tests and treatments before they are widely available.

Featured Clinical Studies

Metabolism, Infection and Immunity (MINI) Section

The MINI section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.

Other Clinical Studies

The following are conducted by NHGRI researchers. For eligibility requirements and contact information, visit the study on clinicaltrials.gov.

ConditionStudy
AlbinismClinical and Basic Investigations into Hermansky-Pudlak Syndrome
AlbinismClinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
AlkaptonuriaStudy of Alkaptonuria
Alstrom SyndromeClinical and Molecular Investigations into Ciliopathies
Amino Acid MetabolismClinical and Laboratory Study of Methylmalonic Acidemia
AsthmaNew Approaches for Empowering Studies of Asthma in Populations of African Descent
Attention Deficit Disorder with HyperactivityGenetic Analysis of Attention Deficit Hyperactivity Disorder (ADHD)
Autosomal RecessiveEvaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis
Bardet-Biedl SyndromeClinical and Molecular Investigations into Ciliopathies
Brain DisordersA Study of the Genetic Analysis of Brain Disorders
Chediak-Higashi SyndromeStudy of Chediak-Higashi Syndrome
Chromosome AbnormalitiesNatural History Study of Smith-Magenis Syndrome
CiliopathiesClinical and Molecular Investigations into Ciliopathies
Congenital Hepatic FibrosisClinical and Molecular Investigations into Ciliopathies
Coronary Artery CalcificationClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study
CraniosynostosisClinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
CystinosisUse of Cysteamine in the Treatment of Cystinosis
Diabetes MellitusMapping Genes for Non-Insulin Dependent Diabetes Mellitus
EczemaStudies of Skin Microbes in Healthy People and in People With Skin Conditions
Gaucher's DiseaseGenetic Studies of Lysosomal Storage Disorders
Genetic VariationPhysicians' Understanding of Human Genetic Variation
Growth DisorderStudy of Proteus Syndrome and Related Congenital Disorders
Healthy IndividualsGenetic Analysis of Immune Disorders
Healthy IndividualsPET Scanning in Parkinson's Disease
Healthy IndividualsStudy of Autoimmune Lymphoproliferative Syndrome (ALPS)
Hermansky-Pudlak SyndromeClinical and Basic Investigations into Hermansky-Pudlak Syndrome
HoloprosencephalyClinical and Genetic Studies on Holoprosencephaly
Immunologic Deficiency SyndromeGenetic Analysis of Immune Disorders
Immunologic Deficiency SyndromeMolecular and Clinical Studies of Primary Immunodeficiency Diseases
Inborn Errors of MetabolismClinical and Laboratory Study of Methylmalonic Acidemia
Inborn Errors of MetabolismDiagnosis and Treatment of Patients With Inborn Errors of Metabolism
Intestinal DiseaseClinical and Basic Investigations into Hermansky-Pudlak Syndrome
Jeune SyndromeClinical and Molecular Investigations into Ciliopathies
Job's SyndromeGenetic Analysis of Immune Disorders
Joubert SyndromeClinical and Molecular Investigations into Ciliopathies
Kidney DiseaseClinical and Basic Investigations into Hermansky-Pudlak Syndrome
Kidney Disease, PolycysticEvaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis
LeukoodystrophiesLeukodystrophies of Unknown Cause
LeukoodystrophyThe Nosology and Etiology of Leukodystrophies of Unknown Causes
Lung CancerGenetic Epidemiology of Lung Cancer
Lysosomal Storage DisordersGenetic Studies of Lysosomal Storage Disorders
Medical SequencingClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study
Mental DisabilityStudy of Proteus Syndrome and Related Congenital Disorders
Methylmalonic AcidemiaClinical and Laboratory Study of Methylmalonic Acidemia
Muenke SyndromeClinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
Multiple Congenital Anomaly SyndromesWhole Genome Medical Sequencing for Genome Discovery
Myocardial DiseaseClinical and Basic Investigations into Hermansky-Pudlak Syndrome
NephronophthisisClinical and Molecular Investigations into Ciliopathies
NeuropathyGenetics of Type 2 Diabetes in West Africans
Oral CleftsGenetic Analysis of Hereditary Non-Syndromic Oral Clefts
Oral-Facial-Digital SyndromeOral-Facial-Digital Syndromes (OFDS) Research Study
Oral-Facial-Digital SyndromesClinical and Molecular Investigations into Ciliopathies
Ovarian HealthPrimary Ovarian Insufficiency
Parkinson's DiseasePET Scanning in Parkinson's Disease
Polycystic KidneyEvaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis
Polycystic KidneyClinical and Molecular Investigations into Ciliopathies
Primary Ovarian InsufficiencyPrimary Ovarian Insufficiency
Proteus SyndromeStudy of Proteus Syndrome and Related Congenital Disorders
Pulmonary FibrosisSpecimen Procurement From People With Pulmonary Fibrosis
Severe Combined ImmunodeficiencyGenetic Analysis of Immune Disorders
Smith Magenis SyndromeNatural History Study of Smith-Magenis Syndrome
Smith Magenis SyndromeTreatment Strategies for Children With Smith-Magenis Syndrome
Wiskott-Aldrich SyndromeMolecular and Clinical Studies of Primary Immunodeficiency Diseases

Last updated: March 3, 2025