Genetic Diseases
 

Check out your topic on these online databases: Student Resource Center and Encyclopedia Britannica (ask a librarian for passwords)
You may also use the links below:

Achondroplasia
Alzheimer's Disease
Autism
Cystic Fibrosis

Diabetes

Down Syndrome

Huntington's Disease

Klinefelter Syndrome
Marfan Syndrome
Neurofibromatosis
PKU

Retinitis Pigmentosa

Sickle Cell Anemia
Tay-Sachs
Thalassemia
Turner Syndrome
 
 
 
 

Achondroplasia

March of Dimes: Achondroplasia - describes the growth defect and its causes.
Medicinenet.com: Achondroplasia - explains characteristics, diagnosis, and genetic inheritance.
Pediatric Health Encyclopedia: Achondroplasia - information from HealthCentral.
M
EDLINEplus Health Information: Achondroplasia - describes symptoms, treatment, and complications.
Johns Hopkins Orthopaedic Surgery: Achondroplasia - patient guide to achondroplasia.

Autism

Ask NOAH About: Autism - covers the basics, care and treatment and the autism spectrum.
WebMD: Autism - a comprehensive overview.

Alzheimer's Disease

Ask NOAH About: Alzheimer's Disease - covers the basics, diagnosis and the caregiver issues.
WebMD: Alzheimer's Disease - a comprehensive overview.

Cystic Fibrosis

Ask NOAH About: Cystic Fibrosis - covers the basics, diagnosis and genetic testing, treatment, resources.
Cystic Fibrosis Foundation - facts about cystic fibrosis: causes, symptoms, treatment.
Cystic Fibrosis: What Is It? - a multimedia guide where you can learn what it is, what causes it, what it is like to have it, and how it is inherited, diagnosed, and treated.
Human Gene Map for Cystic Fibrosis - from the Human Genome Project.

 

Diabetes

All About Diabetes - symptoms, types, statistics, and additional information from the American Diabetes Association.
Diabetes - treatments, complications of, and statistics related to diabetes.
Diabetes Public Health Resource - from the
Centers for Disease Control; explore the "Diabetes & Me" section for facts, links, resources, and articles.
Ask NOAH about Diabetes - NOAH's (New York Online Access to Health) Diabetes pages connect the user to a large number of well-organized resources on all aspects of diabetes.
WebMD: Diabetes - a comprehensive overview.
International Diabetes Website - hosted by the International Diabetes Institute in Australia, this international website is geared to patients, family members, students, doctors, nurses, and researchers. It provides discussions about diabetes, along with information about treatment of the disease.

Down Syndrome

Ask NOAH About Genetic Diseases: Down Syndrome - covers the basics, diagnosis and genetic testing, treatment, resources.
What is Down Syndrome? - answers the question; photograph of genes.
National Down Syndrome Society: About Down Syndrome - covers incidence, causes, myths.
Down Syndrome: Frequently Asked Questions - by Dr. Len Leshin, MD, FAAP.

 

Huntington's Disease

Huntington's Disease - an information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.
Neurology Channel - Huntington's Disease (HD)  - introduction to Huntington's disease; be sure to use links at left sidebar.
FAQs About HD - basic information from the Huntington's Disease Society of America (HDSA).
Huntington's Disease Association Online - facts about the disease, symptoms, treatments; be sure to click on HDA News for articles on latest research and treatments.
Huntington's Disease Information - comprehensive resource on Huntington's disease from the University of Chicago.


Klinefelter Syndrome

Understanding Klinefelter Syndrome: A Guide for XXY Males and Their Families - a National Institutes of Health publication.
Sex Chromosome Variations: About 47XXY - basic information from Klinefelter Syndrome and Associates.
AAKS: Information and Support - about 47XXY/Klinefelter Syndrome.
MEDLINEplus Health Information: Klinefelter Syndrome - includes links to various information.

 
 

Marfan Syndrome

Marfan Syndrome, Children's Heart Institute - Dr. Abdallah uses colorful graphics and animated slide shows to help explain Marfan Syndrome in plain language.
National Marfan Foundation Fact Sheet - basic info, symptoms, diagnosis, causes, treatments.
Marfan Syndrome - information from the American Heart Association.
Marfan Syndrome: What Is It?  - a multimedia guide where you can learn what it is, what causes it, what it is like to have it, and how it is inherited, diagnosed, and treated.
MEDLINEplus Health Information: Marfan Syndrome - includes links to various information.

 
 

Neurofibromatosis

National Neurofibromatosis Foundation - information for patients, families, and healthcare professionals.
Neurofibromatosis, Inc. - nonprofit providing information and assistance to individuals and families affected by this disease and related disorders.
Neurofibromatosis - information compiled by NINDS, the National Institute of Neurological Disorders and Stroke.
March of Dimes - fact sheet about Neurofibromatoses.
Neurofibromatosis: What Is It? - a multimedia guide where you can learn what it is, what causes it, what it is like to have it, and how it is inherited, diagnosed, and treated.

 

PKU

American Family Physician - PKU screening in newborns.
Phenylketonuria (PKU) - information and graphics compiled by a retired Biology professor.
MEDLINEplus Health Information: Phenylketonuria - description of phenylketonuria, along with details of the causes, incidence and risk factors.
NCBI: Genes and Diseases: Phenylketonuria - article with full explanation as to what this disease is.
March of Dimes: PKU - Public health education information sheet with excellent coverage.

 

Retinitis Pigmentosa

What is Retinitis Pigmentosa? - risk factors, treatments and articles from the Foundation Fighting Blindness.
MEDLINEplus Health Information: Retinitis Pigmentosa - illustrations, symptoms, causes, treatment, complications, and prevention information.
Eye Problems - FAQ's about Retinitis Pigmentosa.
Retinitis Pigmentosa - symptoms, signs and causes of RP.

Sickle Cell Anemia

Sickle Cell Information Center - extensive information.
Sickle Cell Disease Association - information on disease with links to other sites.
General Information on Sickle Cell Anemia and other Sickle Cell Disorders - a brief guide to Sickle Cell Disorders with links to more detailed information for different groups of users.
MEDLINEplus Health Information: Sickle Cell Anemia - takes a look at this disorder with a definition, causes, incidence and risk factors.
Sickle Cell Anemia: What Is It? - a multimedia guide where you can learn what it is, what causes it, what it is like to have it, and how it is inherited, diagnosed, and treated.

Tay Sachs

Tay-Sachs Disease: What Is It? - a multimedia guide where you can learn what it is, what causes it, what it is like to have it, and how it is inherited, diagnosed, and treated.
Tay-Sachs Disease - information sheet on this disease addressing what it is, treatment and prognosis.
National Tay-Sachs & Allied Diseases Association, Inc. - information on Tay-Sachs with additional links.
Tay-Sachs Disease - information with a diagram of gene.
MEDLINEplus Health Information: Tay-Sachs -
description of Tay-Sachs, along with details of the causes, incidence and risk factors.


Thalassemia

What is Thalassemia? - information on the disease, includes traditional and alternative treatments.
March of Dimes: Thalassemia - fact sheet on the types, affects, treatment, testing, and prevention.
Thalassemia: What Is It? - a multimedia guide where you can learn what it is, what causes it, what it is like to have it, and how it is inherited, diagnosed, and treated.
About Thalassemia - a basic description of the various forms of Thalassemia.


Turner Syndrome

Turner Syndrome - information from the National Institute of Child Health and Human Development National Institutes of Health.
Turner Syndrome - information from the Human Growth Foundation.
MEDLINEplus Health Information: Turner Syndrome - description of Turner Syndrome, along with an overview and frequently asked questions.
TeensHealth: Turner Syndrome - extensive information about Turner Syndrome written for teens.


 

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Updated 2/08