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News Release

NIH will expand existing gene expression resources bank to include developmental tissues

NIH will award $38.5 million over five years to the Developmental Genotype-Tissue Expression (dGTEx) project, which aims to build a widely available resource of human developmental gene expression in a multitude of tissues for use in basic and clinical research.

… understand how gene expression is regulated over time from birth to adulthood, but also to help children who are …

Staff

Paul P. Liu, M.D., Ph.D.

Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.

News Release

NIH researchers tackle thorny side of gene therapy

NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.

… to health by AAV gene therapy injection shortly after birth. The mice in the study survived into adulthood and were …

For Patients and Families

Genetic Testing FAQ

Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

… screening is used to test babies one or two days after birth to find out if they have certain diseases known to …

File

Genomics and World Health Report of the Advisory Committee on Health Research

… cystic fibrosis and haemophilia. The global prevalence at birth of all single-gene disorders is about 10 per thousand. … practice throughout the world. The prevalence at birth is about 2Ð3%, though the prevalence of individual … vary between different countries. For example, neural tube defects are common in China, Egypt and Mexico, while cleft …

News Release

NIH scientists discover a rare neurological disease involving cellular recycling

Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.

Staff

Bettie J. Graham, Ph.D.

Dr. Bettie Graham was the division director for NHGRI's Division of Extramural Operations.

News Release

Rare disease research may provide insights into common diseases

NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.