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Polydactyly is a condition in which a person has more than the normal number of fingers or toes.
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 …
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 … Branch Alice Schindler, M.S.  Neuromuscular and Neurogenetic Disorders of Childhood Section Sandra …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… two goals: To provide answers to patients with mysterious conditions that have long eluded diagnosis To advance medical … of the Undiagnosed Diseases Network. … Individuals whose conditions have eluded medical diagnoses may apply to become … Program provide answers to patients with mysterious conditions that have long eluded diagnosis. … Rare Disease, …
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. … Genetics professionals are health care … 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. … Genetic Counseling, Medical Genetics, Genetic …
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.
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.
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
… health history is a record of the diseases and health conditions in your family. Knowing the health history of your … may be at increased risk of developing particular conditions. … Healthcare professionals determine whether … may be at increased risk of developing particular conditions. … Health …
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.