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News Release
NHGRI researchers and colleagues are calling for health disparities research that focuses on the microbiome.
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… acidemia and cobalamin (vitamin B12) metabolic defects. By better understanding the complications, we may … acidemia and cobalamin (vitamin B12) metabolic defects. We will define and characterize a patient … 2008. [ PubMed ] Bassim, C. W. et al. Enamel defects and salivary methylmalonate in methylmalonic …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
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 …
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
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.
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 …
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
NHGRI researchers, collaborators at the University of California (UC) San Diego, UC Davis and the University of Pittsburgh School of Medicine lay out a new framework for comparing dog-to-human aging, one that uses epigenetics as a biological marker to better understand the aging process.
… experience the same overarching developmental timeline: birth, infancy, youth, puberty, adulthood and death. But …