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Genetic Diseases   Tags: science 7th  

Last Updated: Dec 13, 2011 URL: http://francisparker.libguides.com/geneticdisease Print Guide RSS Updates
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Genetic Diseases

  • Achromatopsia
    An information network for individuals and families who are affected by achromatopsia and for professionals interested in achromatopsia

    Click on the link: What is Achromatopsia?
  • Aicardi Syndrome
    Click on the link: What is Aicardi Syndrome?
  • Albinism
    NOAH
    The National Organization for Albinism and Hypopigmentation

    Click on the link: Albinism
  • Alexander Disease
    Alexander Disease is a type of leukodystrophy. The leukodystrophies are a group of rare genetic disorders that affect the central nervous system by disrupting the growth or maintenance of the myelin sheath that insulates nerve cells. These disorders are progressive, meaning that they tend to get worse throughout the life of the patient. Below we describe the source of the disorders in more detail.
  • Alper's Disease
    National Institute of Neurological Disorders and Stroke: Alpers' Disease information page
  • Alzheimer's Diesase
    The Alzheimer's Association is the leading, global voluntary health organization in Alzheimer's care and support, and the largest private, nonprofit funder of Alzheimer's research.
  • Angelman Syndrome
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.


  • Autism
    Autism Speaks has grown into the nation's largest autism science and advocacy organization, dedicated to funding research into the causes, prevention, treatments and a cure for autism; increasing awareness of autism spectrum disorders; and advocating for the needs of individuals with autism and their families.
  • Bardet-Biedl Syndrome
    Bardet-Biedl Syndrome page from the Foundation Fighting Blindess.

    The urgent mission of the Foundation Fighting Blindness, Inc. is to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa (RP), macular degeneration, Usher syndrome, and the entire spectrum of retinal degenerative diseases.
  • Barth Syndrome
    The Barth Syndrome Foundation, together with our affiliates, is a community of families, physicians, scientists, donors and volunteers around the world.
    As our mission statement says, we are dedicated to saving lives through education, advances in treatment, and finding a cure for Barth syndrome - a sometimes fatal, oftentimes debilitating genetic disease.
  • Best's Disease
    The Best Foundation is a nonprofit international organization that was established in Israel on March 6th 2005. It's go is
    to promote and fund research projects aimed to better understand the disease and to find a cure for Best Disease.
  • Bipolar Disorder
    From the National Institute of Mental Health
  • Bloom Syndrome
    Lauri & Richard Gladstein founded BLOOM'S SYNDROME FOUNDATION in 2004 shortly after learning that their son Milo was diagnosed with the disorder. The Foundation's goal is to fund research aiming at the development of a therapy for Bloom's Syndrome and the prevention of its complications, primarily the significant risk of developing cancers at early ages.
  • Canavan Syndrome
    The Canavan Foundation is a not-for-profit organization that was founded in 1992 by the parents and friends of affected children. Having witnessed the devastating effects of this disease, the founders pledged to work to increase awareness so others would not have to suffer similarly.
  • Cancer Genetics
    American Cancer Society page describing the genetic component of cancer. Included are links to information about common forms of cancer.
  • Carnitine Deficiencies
    From the Genetics Home Reference. Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Cleft lip / Cleft Palate
    Brochure from the Cleft Palate Foundation discusses the genetics of this birth defect.
  • Coffin Lowry Syndrome
    The Coffin-Lowry Syndrome Foundation (CLSF). The purpose of CLSF is to provide a clearinghouse for information on Coffin-Lowry Syndrome (CLS), and to provide families affected by CLS a general forum in which to exchange information, ideas and advice.
  • Color Blindness/ Color Deficieny
    From the Genetic Home Reference.
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Congenital Heart Defects
    From the National Heart Lung and Blood Institute
  • Cooley's Anemia
    Cooley's Anemia Foundation

    The Cooley's Anemia Foundation is dedicated to serving people afflicted with various forms of thalassemia, most notably the major form of this genetic blood disease, Cooley's anemia/thalassemia major.
  • Corneal Dystrophy
    From the Corneal Vision Foundation website.
  • Cystic Fibrosis
    From the Cystic Fibrosis Website.

    The Cystic Fibrosis Foundation is the world’s leader in the search for a cure for cystic fibrosis. We fund more CF research than any other organization, and nearly every CF drug available today was made possible because of Foundation support.
  • Cystinosis
    The Cystinosis Foundation is a non-profit organization with more than 25 years of International experience in supporting and educating families and the medical community through the dissemination of educational literature, funding research, and annual conferences.
  • Diabetes
    This page from the American Diabetes Association describes the genetic risks for diabetes. There are also links to the different types of diabetes and the symptoms.
  • Down Syndrome
    This page from the National Down Syndrome Society website discusses the genetic causes of this syndrome. The site also contains links to symptoms and prognosis for the syndrome.
  • Epidermolysis Bullosa
    From the Genetics Home Reference
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Familial Dysautonomia
    This page from the Dysautonomia Foundation discusses the genetics of this genetic disease. Links to diagnosis and symptoms of the disease are also available.
  • Fibrodysplasia
    From the Genetics Home Reference
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Fragile X Syndrome
    This page from the National Fragile X Foundation discusses the genetics of this syndrome. The site also has links describing the syndrome, etc.
  • Deficiency Anemia
    There are quite a few causes of this condition. This page lists the major diseases associated with this condition and gives a brief overview of the genetics of the particular disease.
  • Galactosemia
    Galactosemia Foundation is a national, non-profit, volunteer organization whose mission is to provide information, support, and networking opportunities to families affected by galactosemia.
  • Gaucher's Disease
    From the National Gaucher Foundation.
  • Glaucoma
    From Genetics Home Reference
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Hemochromatosis
    From the National Digestive Diseases Information Clearing House.
  • Hemoglobin C Disease (see also: Sickle Cell Anemia)
    From the University of Iowa Children's hospital website.
  • Hemophilia
    From the National Human Genome Research Institute
  • Homocystinuria
    Genetics Home Reference
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Huntington's Disease
    From the Mayo Clinic.
  • Hurler Syndrome (Mucopolysaccharidosis (MPS) I)
    From the National MPS Society
 

About this page

There is an abundance of medical information on the internet. The internet links included here were located using Google. The criteria for selection included the clarity of the discussion of the disease or syndrome and also whether genetic information was included. Where possible, links to non-profit organizations supporting a particular disease were chosen since these organizations often present very accurate and detailed information in laymen's terms. Also, these sites often help put a human face to these problems so that, you as students, will learn not only the science but also the devastationg human side to these conditions.

Databases

Online Encyclopedias

More Genetic Diseases

  • Klinefelter's Syndrome
    The NICHD conducts and supports research on all stages of human development, from preconception to adulthood, to better understand the health of children, adults, families, and communities.
  • Marfan Syndrome
    The National Marfan Foundation, founded in 1981, is a non-profit voluntary health organization dedicated to saving lives and improving the quality of life for individuals and families affected by Marfan syndrome and related disorders.
  • Marshall Syndrome
    Healthline was founded in 1999 as YourDoctor.com and was re-launched as Healthline Networks in 2005. Although this is a commercial site, the information is clear and concise.
  • Marshall Syndrome
    For another look at the syndrome, go to NIH's Office of Rare Diseases.
  • Menkes Disease
    From The National Institute of Neurological Disorders and Strokes. The mission of NINDS is to reduce the burden of neurological disease - a burden borne by every age group, by every segment of society, by people all over the world.
  • Mitochondrial Disease
    From The United Mitochondrial Disease Foundation. The UMDF maintains this website to provide the latest news and information about issues relating to mitochondrial disease research and information.
  • Mucolipidoses
    Mucolipidosis IV Foundation
    ML4 is a genetic disease causing mental retardation, retinal degeneration, and limited lifespan. The mission of the Foundation is to fund, promote, and support medical research dedicated to developing treatments and a cure for ML4.
  • Muscular Dystrophy
    From the Muscular Dystrophy Association site. This page links to the list of neuromuscular diseases.
    MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research.
  • NOMID (Neonatal Onset Multisystem Inflammatory Disease
    From NLM's Genetics Home Reference. Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Neural Tube Defects
    Duke Center for Human Genetics. The Duke Center for Human Genetics is an international leader in the study of inherited disorders.
  • Noonan Syndrome
    National Human Genome Research Institute
    The National Human Genome Research Institute began as the National Center for Human Genome Research (NCHGR), which was established in 1989 to carry out the role of the National Institutes of Health (NIH) in the International Human Genome Project (HGP).
  • Optic Neuropathy (LHON)
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Optic Atrophy Type I (Kjer's)
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Osteogenesis Imperfecta (Brittle Bone Disease)
    OI Foundation Website. The foundationfunds research, runs education programs, raises awareness, and provides support to families of OI.
  • Peutz-Jeghers Syndrome
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Phenylketonuria (PKU)
    From the March of Dimes website.March of Dimes has led the way to discover the genetic causes of birth defects, to promote newborn screening, and to educate medical professionals and the public about best practices for healthy pregnancy. We have supported research for surfactant therapy to treat respiratory distress and helped initiate the system of regional neonatal intensive care for premature and sick babies.
  • Pseudoxanthoma Elasticum
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Progeria (HGPS) Hutchinson-Gilford Progeria Syndrome
    Progeria Research Foundation
    MISSION: to find treatments and the cure for Progeria and its aging related disorders.
  • Scheie Syndrome (mucopolysaccharidosis type I)
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Sickle Cell Anemia
    The National Heart, Lung, and Blood Institute (NHLBI) provides global leadership for a research, training, and education program to promote the prevention and treatment of heart, lung, and blood diseases and enhance the health of all individuals so that they can live longer and more fulfilling lives.
  • Skeletal Dysplasias (Dwarfism)
    Although this is a commercial site, this offers a comprehensive article of the many skeletal dysplasias.
  • Spherocytosis
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Spinocerebellar Ataxia
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Stargardt's Disease
    The American Macular Degeneration Foundation is committed to the prevention and cure of macular degeneration and offers hope and support to those afflicted and their families.
  • Stickler Syndrome
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Tay-Sachs Disease
    National Tay-Sachs & Allied Diseases Association (NTSAD) is one of the oldest patient advocacy groups in the country. We focus on funding research, supporting over 500 families and individuals worldwide, and raising awareness to prevent disease.
  • Thalassemia
    The Cooley's Anemia Foundation is dedicated to serving people afflicted with various forms of thalassemia, most notably the major form of this genetic blood disease, Cooley's anemia/thalassemia major.
  • Tourette Syndrome
    Tourrette Sydrome Association. Our mission is to identify the cause of, find the cure for and control the effects of Tourette Syndrome. We offer resources and referrals to help people and their families cope with the problems that occur with TS.
  • Treacher Collins Syndrome
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Tuberous Sclerosis
    The Tuberous Sclerosis Alliance is dedicated to finding a cure for tuberous sclerosis complex while improving the lives of those affected.
  • Turner Syndrome
    The National Human Genome Research Institute began as the National Center for Human Genome Research (NCHGR), which was established in 1989 to carry out the role of the National Institutes of Health (NIH) in the International Human Genome Project (HGP). The HGP was developed in collaboration with the United States Department of Energy and begun in 1990 to map the human genome.
  • Urea Cycle Disorder
    The National Urea Cycle Disorders Foundation is a non-profit organi-zation dedicated to the identification, treatment and cure of urea cycle disorders
  • Usher's Syndrome
    From the National Institutes of Health. A joint resource from the National Eye Institute and the National Institute on Deafness and Other Communication Disorders.
  • Werner Syndrome
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • Triple X Syndrome
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
  • XYY Syndrome
    Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
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