Search Results
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… rotations for students to learn directly about genetic conditions, their impact on individuals and their families, … into the cause and clinical history of genetic conditions and behavioral issues surrounding the use of genetic testing. … to help people find useful information about genetic conditions and rare diseases.  JHU DNA Diagnostic …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… life. Researchers found other evidence that genetic conditions are underestimated. That is because, until now, knowledge about genetic conditions has mostly been based on family health history or … encompass some of the most common, severe and disabling conditions affecting Americans. For more information about …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… children with complex neuromuscular and neurogenetic conditions. His team uses next-generation genomic tools to … spectra and the natural history of known genetic conditions. Their focus is on early-onset muscle disease, … neuromuscular disorders of childhood, neurogenetic conditions, congenital myopathies …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… who have genetic disorders or may be at risk for inherited conditions. … who have genetic disorders or may be at risk for inherited conditions. Genetic professionals: Assess the risk of a … who have genetic disorders or may be at risk for inherited conditions. … who have genetic disorders or may be at risk for inherited conditions. …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Longstanding medical conditions that elude diagnosis are considered undiagnosed … two goals: To provide answers to patients with mysterious conditions that have long eluded diagnosis To advance medical … Individuals whose conditions have eluded medical diagnoses may apply to the …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… people who have WAGR syndrome have two or more of these conditions. Also, people can have WAGR syndrome, but not have all of the above conditions. Other names for WAGR syndrome that are used are: … symptoms of WAGR syndrome may also include: Developmental, behavioral, and/or psychiatric disorders including autism, …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
Clinical Research
This study explores how microbes, such as bacteria and fungi, contribute to a very common skin condition called Atopic Dermatitis, known as eczema.