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Frequently Asked Questions About Genetic Research

What do genetic researchers study?

Gloved hands with pipette and test tubeWe have made great progress in mapping the human genome. Genetic researchers are now learning more about how each gene works and what it does. They also study the role that variations in genes play in disease. Genetic researchers are working to identify the genetic and environmental causes of common illnesses such as asthma, arthritis and Alzheimer disease. The results of such studies will lead to many advances in disease prevention and treatment.

How can genetic research help people with genetic disorders?

Genetic research will lead to improved diagnosis and treatment of diseases. Researchers are creating new types of drugs based on what we know about genes. Because these newer drugs target certain sites in the body, they may have fewer side effects than many of today's medicines. Other new types of medicines will be tailored to an individual's unique genetic profile. (See Pharmacogenetics and Phamacogenomics at: Genetics, Disease Prevention and Treatment).


Current Basic Genetic Research at NHGRI Labs

Genetic or Rare Condition NHGRI Research Lab
Alagille Syndrome Dr. Settara C. Chandrasekharappa
Alkaptonuria Dr. William Gahl
Alzheimers Don Hadley, M.S., C.G.C.
(Adjunct Investigator)
Autoinflammatory Diseases Raphaela Goldbach-Mansky, M.D.
(Adjunct Investigator)
Bardet-Biedl syndrome Dr. Leslie Biesecker
Breast cancer
Dr. Lawrence Brody
Cleft Lip/Palate Dr. Joan Bailey-Wilson
Cystic Kidney Disease Dr. Suzanne Hart
Cystinosis Dr. William Gahl
Endometrial Cancer Dr. Daphne Bell
Fredrich's Ataxia Dr. Kenneth Fischbeck
(Adjunct Researcher)
Gaucher Disease Dr. Ellen Sidransky
Genetic diseases of the teeth, oral cavity and kidney Dr. Suzanne Hart
Grieg Cephalopolysyndactyly Syndrome Dr. Leslie Biesecker
Hereditary Inclusion Body Myopathy Dr. Marjan Huizing
Hereditary Motor Neuron Disease Dr. Kenneth Fischbeck
(Adjunct Researcher)
Hermansky-Pudlak Dr. Marjan Huizing
Holoprosencephaly Dr. Max Muenke

Dr. Erich Roessler
Inborn errors of embryonic development Dr. Stacie Loftus
Kennedy's Disease Dr. Kenneth Fischbeck
(Adjunct Researcher)
Lenz Microphthalmia Syndrome Dr. Leslie Biesecker
Leukemia Dr. Pu Paul Liu
Lung Cancer Dr. Joan Bailey-Wilson
McKusick-Kaufman Syndrome Dr. Leslie Biesecker
Multiple Endocrine Neoplasia Type 1 (MEN1)
(Hereditary Cancer Syndrome)
Dr. Settara C. Chandrasekharappa
Muscular Dystrophy Dr. Kenneth Fischbeck
(Adjunct Researcher)
Pallister-Hall Syndrome Dr. Leslie Biesecker
Papillon-Lefevre Syndrome Dr. Suzanne Hart
Polyglutamine Expansion Diseases Dr. Kenneth Fischbeck
(Adjunct Researcher)
Sarcoma Dr. William Gahl
Skin Cancer Dr. Raman Sood
Spinal Muscular Atrophy Dr. Kenneth Fischbeck
(Adjunct Researcher)
Spinocerebellar Ataxia Dr. Kenneth Fischbeck
(Adjunct Researcher)
X-Linked Agammaglobulinemia Dr. Pamela Schwartzberg
X-Linked Lymphoproliferative Syndrome Dr. Pamela Schwartzberg
Zimmerman-Laband Syndrome Dr. Suzanne Hart

Where can I get more information about genetic research?

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Last Reviewed: June 2, 2014

See Also:

Talking Glossary
of Genetic Terms

Definitions for genetic terms used on this page.

Cumulative Pace of Gene Discovery 1981 - 2005 Microsoft PowerPoint
The number of disease genes identified from 1981 to 2005.

Gene Discoveries for Common Complex Diseases 1990 - 2007 Microsoft PowerPoint
The genes discovered, along with concurrent NIH initiatives, since the beginning of the Human Genome Project.