Human Genetic Diseases

Studied in the Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine

• Fabry Disease
• International Center for Fabry Disease, Mount Sinai School of Medicine
• Jewish Genetic Diseases
• Center for Jewish Genetic diseases, Mount Sinai School of Medicine
• Bloom Disease
• Canavan Disease
• Familial Dysautonomia
• Fanconia Anemia
• Gaucher Disease
• Mucolipidosis IV
• Niemann-Pick Disease
• Tay-Sachs Disease
• Tortion distonia
• Gaucher Disease
• The Comprehensive Gaucher Disease Treatment Program, Mount Sinai School of Medicine
• Niemann-Pick Disease
• International Center for Types A and B Niemann-Pick Disease, Mount Sinai School of Medicine
• X-Linked Sideroblastic Anemia
• X-Linked Sideroblastic Anemia

Clinical Trial Information in the Department of Genetics and Genomic Sciences

• Usher Syndrome Research Project

Internet Resources concerning Human Inherited Diseases

• Cell Lines
• NIGMS, NIGMS Human Genetic Cell Repository, Coriell Cell Repositories at UMDNJ
• Mutation Databases
• HGMD, The Human Gene Mutation Database (Cardiff)
• HiMD, Hematologically Important Mutation Database (Scripps)
• Mutations, Links to lists of specific gene mutations
• OMIM, The Online Mendelian Inheritance in Man - Now at NCBI
• TBASE, Transgenic Mutation Database
• UMD, Universal Mutation Database - Under development at Hopital Necke r-Enfants Malades.
• General Genetic Information
• MMBID, The Metabolic and Molecular Bases of Inherited Disease.
• Understanding Gene Testing, Information from the U.S. Department of Health and Human Services.
• Understanding Genetics, Information from the Museum of Innovation.
• Your Genes, Your Choices, An online book concerning genetic diseases.
• Laboratories
• GeneClinics, An Electronic Clinical Genetics Knowledge Base
• GeneTests, A Directory of Medical Genetics Laboratories (previously Helix)

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