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Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… because of the palatal differences; middle-ear infections (otitis media); low calcium due to … problems which make it difficult for the body to fight infections; differences in the way the kidneys are formed or … surgical interventions and intensive speech therapy. Infections are generally treated aggressively with …
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
News Release
A new study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… who have Turner syndrome may have frequent middle ear infections. Recurrent infections can lead to hearing loss in some cases. Girls with … who have Turner syndrome are more likely to get middle ear infections. Repeated infections may lead to hearing loss and …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… To collect your stem cells, you will: Be admitted to the hospital for 1 to 3 days. Be given a medication that causes … your modified stem cells, you will: Be admitted to the hospital. Receive a chemotherapy drug through an intravenous … track your progress. Medicines to help prevent and treat infections. Outpatient: 2 to 3 months Once your healthcare …
News Release
NHGRI researchers and colleagues are calling for health disparities research that focuses on the microbiome.
… infection in women, ages 15-44) and sexually transmitted infections. While some researchers have focused on …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… (the cells and proteins present at birth that fight infections). An international network of scientists studying … . The NIH Clinical Center is the nation's largest hospital devoted entirely to clinical research. …
News Release
Researchers at NHGRI have discovered an immune mechanism in humans that perceives threats and was found only in plants.
… gene that encodes the pyrin protein, but certain bacterial infections spark the same activation of the pyrin …