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Explains a gene defect of mitochondrial DNA which causes several diseases, including maternally inherited diabetes with deafness. Features a newsletter, patient forum and definitions.
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The BPEI (BPES) Family Network encourages people to get in touch with each other, share information and ask questions. Explanation of this rare eye disorder.
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NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.
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Lay advocacy and support groups, information on genetic conditions birth defects for professionals, educators, and individuals.
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Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis.
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The IMMD is a genetic testing laboratory located in Germany. Provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood.
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Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease.
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Scientists have not only identified a critical gene involved in heroin addiction relapse, but they have also successfully blocked it, eliminating cravings for the drug.
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Information on a rare congenital disease.
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A critical effort to provide public and professional education for many of the identified Jewish genetic disorders. Find info on screening and counseling, advocacy, events and community resources.
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El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it?
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Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
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The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
