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Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… state the mouse model embodies the characteristic vascular defects found in HGPS patients, including age-related loss of … with FTIs was successful at reducing the cardiovascular defects in young mice. In addition, it improved the … LB, Collins FS. Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts . Proc Natl Acad …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic testing may be performed prenatally or after birth. Genetic testing is also used to study the genomes of …
News Release
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
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
For Patients and Families
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 …
News Release
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 …
File
… 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
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
Staff
Dr. Bettie Graham was the division director for NHGRI's Division of Extramural Operations.