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Blepharophimosis Ptosis Epicanthus Inversus Syndrome
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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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Dr. Greene's HouseCalls: Trisomy 13
NEW!
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Discusses medical information on this chromosome abnormality, including the doctor's personal family experience with this rare disease.
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Gene Clinics
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Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.
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Genetic and Rare Conditions
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Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
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Genetic Disorders: The Links to Diet
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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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IMMD Institute of Medical Molecular Diagnostics Ltd.
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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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Primary Ciliary Dyskinesia
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Information on a rare congenital disease.
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The Center For Jewish Genetics Disorders
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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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The UDGD Spot
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Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis.
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Washington University in St Louis
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Family resource for individuals with Papillon Lefevre, Haim-Munk Syndrome and Prepubertal Periodontis. Interested families may participate in a registry dedicated to learning about the natural history of these three conditions.
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XLH Network
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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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Your Genes, Your Health
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The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
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A3243G
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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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New Scientist: Heroin Addiction Gene Identified and Blocked
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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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