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Educational Resources
Polydactyly is a condition in which a person has more than the normal number of fingers or toes.
Talking Glossary
A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease.
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 …
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 …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… NIH Common Fund from 2013-2022. … 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 … emerging technologies as appropriate … 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.
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.