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Genetic Disorders

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  • Your Genes, Your Health [*]
    A multimedia guide to specific individual genetic disorders from the Dolan DNA Learning Center at Cold Spring Harbor Laboratory.
    www.yourgenesyourhealth.org
  • Genetic Alliance
    Provides a global resource for genetics information including a directory of condition-specific lay advocacy member groups.
    www.geneticalliance.org
  • OMIM: Online Mendelian Inheritance in Man
    A catalog of human genes and genetic disorders.
    www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
  • GeneClinics
    Working to promote the appropriate use of genetic services in patient care and personal decision making by providing current, authoritative information on genetic testing and its use in diagnosis, management, and genetic counseling.
    www.geneclinics.org
  • Hereditary Disease Foundation
    Nonprofit, basic science organization dedicated to the cure of genetic disease.
    www.hdfoundation.org
  • Xeroderma Pigmentosum Society
    Provides information on the disease also known as XP.
    www.xps.org
  • National Dysautonomia Research Foundation
    Offers information and support for people affected by disorders of the autonomic nervous system.
    www.ndrf.org
  • MedlinePlus: Genetic Disorders
    Presents news, FAQs, overviews, fact sheets, research, and other resources.
    www.nlm.nih.gov/medlineplus/geneticdisorders.html
  • Human Gene Mutation Database
    An attempt to collate known (published) gene lesions responsible for human inherited disease.
    www.uwcm.ac.uk/uwcm/mg/hgmd0.html
  • XLH Network
    Worldwide patient support organization for people living with, treating, or researching the metabolic genetic disorder x-linked hypophosphatemic rickets, also known as vitamin D resistant rickets.
    www.xlhnetwork.org
  • Pompe
    Learn about symptoms and treatments of Pompe disease, a rare neuromuscular genetic disease that occurs in babies, children, and adults. Site created by Genzyme.
    www.pompe.com
  • Canadian Association of Genetic Counsellors
    Works to establish minimum standards of practice, to encourage professional growth, and to increase recognition of the genetic counselling profession in Canada.
    www.cagc-accg.ca
  • CAPS Family Connections
    Information on cryopyrin associated periodic syndromes (CAPS) and a screener survey regarding patient symptoms, including familial history of symptoms and existing diagnosis of CAPS.
    www.capsfamilyconnections.com
  • Center for Inherited Disease Research - Johns Hopkins University
    High throughput genotyping and statistical genetics services to investigators seeking to identify genes contributing to human disease.
    www.cidr.jhmi.edu
  • Medical Genetics
    Materials including exams and photos to supplement the textbook by Jorde et al.
    medgen.genetics.utah.edu
  • Chromosome 9P- Network
    International not-for-profit organization dedicated to educating and bringing together families with children who have Alfi's syndrome.
    www.9pminus.org
  • Mucolipidosis IV Foundation
    Information forum on ML$, a rare genetic disease.
    www.ml4.org
  • International Society for Mannosidosis & Related Diseases
    A nonprofit organization advocating for families and caregivers.
    www.mannosidosis.org
  • Center for Inherited Disorders of Energy Metabolism (CIDEM) - Case Western Reserve University
    Focuses on disorders of mitochondrial function interfering with pyruvate metabolism, fatty acid oxidation, the Krebs cycle, and the electron transport chain.
    www.cwru.edu/med/CIDEM/cidem.htm
  • Office of Genetics and Disease Prevention
    Information and global resources on human genetic research, the Human Genome Project, epidemiology, public health, disease prevention, and health promotion.
    www.cdc.gov/genomics/default.htm
 


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Genetic Disorders

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