Directions
Books Databases
General Resources
Resources for Specific Disorders
This assignment continues our study of genetic disorders. You will research 5 genetic disorders and answer the following questions:
Books
There are many books on these various genetic disorders found in the general
collection; use the OPAC to locate them. You can also find books in the
reference section:
R 616 Wyn - The Encyclopedia of Genetic Disorders and Birth Defects
R 616.003 Hum - Human Diseases and Conditions
R 576.50 Wor - The World of Genetic Disorders
Also consult your textbook, Applied Genetics, Chapter 27.
Online Databases
These can be accessed from the desktop of the IMC computers and from
home from the IMC's home page - you will need a user ID and password
Ebscohost for magazine and newspaper articles
Gale Group - Student Resource Center: Health Module
Resources
Books
There are many books on these various genetic disorders found in the general
collection; use the OPAC to locate them. You can also find books in the
reference section:
R 616 Wyn - The Encyclopedia of Genetic Disorders and Birth Defects
R 616.003 Hum - Human Diseases and Conditions
R 576.50 Wor - The World of Genetic Disorders
Online Databases - these are an excellent source of
online books, magazines, newspapers, fact sheets and scholarly journals
These sources are up-to-date.
These can be accessed from the desktop of the IMC computers and from
home from the IMC's home page - you will need a user ID and password
Ebscohost - MasterFile Premier and Health Source - Consumer Edition
Gale Group - Student Resource Center: Health Module
Facts on File - Science
Top of Page
General Resources - start here for information
Google
- this search engine's listing of genetic disorders is wonderful; it is arranged
alphabetically by the disorder and you can find 99% of the assigned disorders
here.
MayoClinic - reliable information on
genetic disorders and diseases
Ask
NOAH - this is a fabulous site for information on genetic disorders
Health Web - educational site for health
information
Genetic-related Diseases and
Disorders - provides links to information available on this topic' from the
Lawrence Berkeley National Laboratory
Family Village -
information on specific diseases; alphabetically arranged
Genetic and Rare Conditions - sponsored by the University of Kansas Medical
Center; arranged alphabetically
The National Institute
of Health - this site provides a description of the disease and a genome
view of each disease or disorder; the left frame contains a list of the diseases
Pediatric Database
- contains over 550 childhood illnesses and disorders
Resources for Specific Disorders - click on the letter of the alphabet of the disorder
Achromatopsia
Achromatopsia
Home Page - one-stop shopping for information on this genetic disorder
What is
Achromatopsia - fact sheet
Breaking the Color Code - this is an excellent site to learn about this disorder
includes information comparing the incidences in men and women and an
explanation of how we see
Discovery Health -
article on this disorder
HealthLink
- article on color blindness
National
Center for Biotechnology - complete information on this disorder
Mapping of Achromatopsia - this is a scholarly paper on color blindness from
Rockefeller University
Acid Maltase Deficiency (Pompe's Disease)
MDA - includes fact sheets'
references provide research information on the genetic link - good place to
start your search
Acid Maltese Deficiency Organization -
includes research, meet the patients and summary of the disorder; in the
"Meet the Patients" page, there are photos of people with the disease
and they discuss the impact of the disease on their lives
Adrenoleukodystrophy
Health Topics -
includes definition, descriptions, causes, symptoms, diagnosis, treatment and prognosis
NIH - this site
provides a brief overview of the disorder
ALD - provides a definition,
genetic information and diagnosis
Fact Sheet - includes charts
and graphs
Lorenzo's
Oil - this movie put a face on this disease
Albinism
Albinism - this provides a
description and photographs
International Albinism Center - this
is an excellent site that provides fact sheets; it even includes information for
student research project (scroll down for these links)
Aicardi Syndrome
EMedicine - scholarly
paper on the disorder
Aicardi Syndrome Foundation - information
and a medical survey completed in 1993
Medline
- definition , causes and risks, symptoms, signs and tests, treatment, and
prognosis
Alpha-1 Antitrypsin Deficiency
Understanding
the Disorder - from the National Institute of Health; includes the risk
factors and prognosis
Medline
Encyclopedia - illustrations, definition, causes and risks, prevention,
symptoms, signs and tests, treatment, prognosis and complications; excellent
site.
Medicine
Net - this site includes a myriad of information; it also has diagrams
Alpha 1 Organization - click on what is
alpha 1 for information
Androgen Insensitivity Syndrome
AIS -
this site from the National Institute of Health is technical, but provides some
excellent information
Testicular
Feminization - includes illustrations, definition, causes, symptoms,
treatment and prognosis
Apert Syndrome
Article
from OMIM Home Page - includes description and genetic basis
Pediatric
Database - includes definition and a list of abnormalities associated with
this disorder
What is Apert Syndrome - includes a
definition, features and a very good explanation of the genetic link
Andrew's Journey - this is
a personal account a child with this disorder. It also includes other personal
accounts; this is an excellent site for learning about the personal impact of
this disorder
Arrhythmogenic Right Ventricular Dysplasia
ARVD - this site contains news (see
reference) about the disorder and information on its diagnosis
Meghan - learn
about a family's struggle with this disorder
Cardiomyopathy
- article from the Cardiomyopathy organization
Ataxia Telenagiectasia
Children's Project - information, inheritance
and diagnosis
Meet Patrick - article from an Austin,
Texas newspaper about a boy living with this disorder
A-T Syndrome - diagram
showing this disorder
A-T article - includes a
graphic of the gene and information on the disorder
Questions and Answers - from
the National Institute of Health
Blue Rubber Bleb Nevus Syndrome
Blue Rubber Bleb Nevus
Syndrome - this site from the University of Texas Southwestern Medical
Center is one shop stopping for information on this disorder; include information,
diagnosis, clinical signs, research and treatment
Medicine.com - this is
an article written for doctors that describes the disorder
Top of the Page
Canaan Disease(Leukodystrophy)
The Canaan Foundation
Cerebella Ataxia
Medical
Encyclopedia - includes a definition, symptoms, diagnosis and treatment
Cooley's Anemia (thalassemia)
Cooley
Anemia Foundation - includes facts on the disorder and personal profiles
Joint Center for Sickle
Cell and Thalassemia Disorders - includes information on thalassemia and its
transmission
Medline
- this article includes symptoms, causes and risks, prognosis and illustrations
Cry due chat syndrome
Online Medallion
Inheritance - description, clinical features, molecular genetics
and references
Medline
article - includes definition, causes and risks, prevention, symptoms,
treatment, prognosis
Durum's Disease (adipose dolorous)
Article
from Emerging Worlds - includes the history of the disorder, treatments and
symptoms
NERD -
article about this rare disorder from National Organization for Rare Disorders
Article
from Medline - includes definition, causes and risks, prevention, symptoms,
treatment and prognosis
Personal Stories about the
disorder
Edward's Syndrome
Baby
World - this brief articles describes the causes of this disorder
Pediatric
Database - includes definition and description of malformations
Medline
- article includes definition, causes and risks, prevention, symptoms, treatment
and prognosis
Franconia Anemia
Franconia Anemia Home Page - scroll
down for links to information on the disease
Online
Medallion Database - includes description, clinical features, inheritance,
mapping diagnosis and molecular genetics
Hope for Henry - a personal story about a
little boy's struggle with the disease
Fibrodysplasia Oossificans Progressive
E-Medicine - very
detailed article on this disorder; includes photos
Fragile X Syndrome
National Fragile X Syndrome
Foundation - site includes information on research, definition, causes and
characteristics of the disorder
Gene Clinic -
University of Washington; includes summary, diagnosis, clinical description,
genetics, resources, and references
Conquer Fragile X - read about the
lives of children who have this disorder; information on the disorder
FREDA Foundation - symptoms, cause,
inheritance, prevalence, testing and treatment
Online Medallion
Database - description, inheritance, mapping, genetics, diagnosis,
and history
Galactosemia
Parents of Galactosemia
Children - this site provides information on the disorder, its
history; be sure to click on Student Research Information for some excellent
information.
Galactosemia Handbook
- this guide for parents was developed by the Texas Department of Health
Gauche Disease
National Institute of
Health - article examines current issues and treatment
National Gauche Disease Foundations
- this site provides information on the disorder's treatment, prevalence,
symptoms and research
Gauche Research Fund - read personal accounts of children who are battling this
disease
Top of Page
Hemochromatosis
Merck
Manual - looks at the disorder's symptoms, treatment and prognosis
Iron Institute -
provides an overview of the disorder
American Heochomatosis Society -
interesting article on the Celtic connection to this disorder
Hemophilia
National Hemophilia
Organization -
Encarta
Encyclopedia - article provides a good introduction to the disorder
Description of Hemophilia -
This page explains information about coagulation
Pediatric
Database - article that explains the various types and genetic factors
World
Federation of Hemophilia - Fans about the disorder
Huntington's Disease
International
Huntington Association - excellent site for an explanation of this disorder
Huntington's Disease Society of America -
includes information, Fans, and publications from its Family Guide Series
including genetic testing, copying with, introduction
Fact Sheet - basic
information
Hurler Syndrome
Yahoo Health - definition,
alternate names, causes, incidence and risk factors
OMIT Database - description, clinical features, inheritance, diagnosis,
references
Medline
Encyclopedia - alternative names, definition, causes and risks, prevention,
symptoms, treatment and prognosis
Hypophosphatasia
National Institute of Health
- provides information on this rare genetic bone disease
Canadian
Hypophosphatasia Society - a very good definition of the disorder
Online
Mendalian Database - text describes the disease; also includes clinical
symptoms
Magic Foundation - from
the Shriner's Hospital; includes definition, prevalence and prognosis
Hypophosphatasia Database -
provides definition, mutations and links
Krabbes Disease
Yahoo Health
- definition, causes, risk factors and symptoms
Krabbes Foundation - definition,
treatment and prognosis, but also includes personal stories (click on family
stories)
Krabbe's Kids - read the personal stories
of children with this disorder
Basic Information -
written without technical language
Langer-Giedion Syndrome (
Trichorhinophalangal Syndrome Type II)
Online
Mendalian Database - description of the disease including clinical symptoms
Basic Information - written
without technical language
Chromosome - image of chromosome
8
Health
Library - description of the disorder
Leukodystrophy Deficiency
Leukodystrophy Foundations
- description of the disorder
Metachromatic
Leukodystrophy - from the OMIM database
Long QT Syndrome
Heart
Center - definition, symptoms, diagnosis and treatment
QT Syndrome - information on the disease
Vanderbilt
University - technical article
QT Society - FAQs, history and genetic
basis
Genes and Diseases
Database - brief overview
Top of Page
Marfan Syndrome
Marfan
Syndrome
- this is an excellent site; one stop shopping for information on
this disorder
Genes and Diseases
Database - overview of the disorder
Children's
Heart Institute - use the menu to find out about causes of the disorder and
its impact on the heart skeleton, and eye; includes images
Mobius Syndrome
HealthLink -
brief article on this disorder
Mucopolysaccharidosis
Pediatric
Database - description of the disorder
Canadian MPS Society - scroll
down for the following information: history, causes and heredity, occurrences,
symptoms, treatment
Yahoo Health
- brief description
National
Library of Medicine - describes the disorder, symptoms, and alternative
names
Top of Page
Nail Patella Syndrome
Overview - definition, genetics,
and illustrations of affected body parts
Eye
Conditions - definition, symptoms, treatment and clinic information
Neurofibromatosis
The National Neurofibromatosis Foundation -extensive information about the
disease, doctors, and research
Neurofibromatosis Homepage - provides
support for families with NF
The Neurofibromatosis Foundation - offers mutual support for those suffering
with NF
and provides information and links to other families and doctors.
Niemann-Pick Disease
National Niemann-Pick Disease Foundation - excellent website with
information about the foundation and the disease, support for families,
education and links to other sites.
Niemann-Pick Disease -
A NIH site which offers educational, support and fundraising.
Osteogenesis Imperfecta
The Osteogenesis Imperfecta Clinic - defines the disease, its cause and
quality of life with people with OI.
Osteogenesis Imperfecta - definitions and descriptions of the four types of
OI.
Osteogenesis Imperfecta - a personal website which raises questions as to
whether this is solely a genetic disease or one that may be linked to nutrition
and the environment.
Top of Page
Patau's Syndrome
Patau's Syndrome - definition and support
Ask a Scientist - about Patau's Syndrome
Polydactyly - photo of infant's hand
Polydactyly of the hand - description
Polydactyl - photo
Porphyria
Porphyria
- description and links to national foundations.
Prophyria -
chemical injuries and Prophyria
Intoxication Prophyria - data
from The Edelson Center for Environmental & Preventative Medicine
Prader-Willi Syndrome
Description of Prader-Willi Syndrome - From Pregnancy to birth and
beyond.
Prader-Willi Syndrome Q & A - sponsored by the Prader-Willi Syndrome
Association.
PWSA Homepage - questions and answers about Prader-Willi Syndrome.
Progeria
Progeria Research Foundation -
this is an excellent site for information about the disorder
Hutchinson-Gilford Progeria Research
Center - check out the links section of this site; it contains many personal
stories
Online
Mendelian Database - technical article on the disorder
Scientific
American - article where an expert answers questions about the disorder
Yahoo Health -
overview, treatment and images
Proteus Syndrome
Proteus Foundations - for
information click on glossary, signs of and article abstracts
Online
Mendelian Database - technical article on the disorder; click on text
DOIA
- this site includes a definition of the disease, alternative names, images and
diagnosis; use the menu bar to access this
Pediatrics - history,
symptoms, clinical prognosis
Retinoblastoma
Yahoo Health
- overview, signs and symptoms, treatment and images
Gene Clinic - scroll down for the information; gives the genetic connection to
the disorder
Retinoblastoma
- case study of a child with this disorder; scroll down for additional
information
Genes and
Diseases - describes genetic basis for the disease
MedNews
- medical article on the disorder
Eye
Care Center - gives basics on the disorder
Continuing Medical
Education - describes the disorder, history and prevalence
Schwachman Syndrome
Shwachman Foundation Canada -
clinical features and research news
Smith Magenis Syndrome
Online
Mendelian Database - click on text to read an article about this disorder
Baylor
University - definition, clinical and behavioral features, diagnosis,
Conference on
Smith Magenis Syndrome - includes image of the genetic defect and information
on the disorder
Special Child Zone
- information on the disorder and personal stories
Stickler Syndrome
Stickler Involved People -
national organization for this disorder; includes medical information,
definition and recent research
Gene Clinics - scroll
down for information which includes definition, genetic testing and treatment
UK
Stickler Syndrome Organization - the article is clearly written and provides
up-to-date information
Top of Page
Thrombocytopenia Absent Radius Syndrome (TAR)
Online
Mendelian Database - click on text to read the article
Tourette's Syndrome
Tourette's - FAQs
and treatment
Neuroscience for Kids
- definition, facts, causes, treatment and a list of famous people with the
disorder
Tourette's Syndrome Association -
background, treatment and research news
Internet Mental Health -
European and American definitions plus resources
Triose Phosphate Syndrome
James Stewardson Reseach
- informtion on this disorder includes prognosis, personal stories and latest
research
Triple X Syndrome
Triple X Syndrome - symptoms
Triple X Syndrome
Triple X Syndrome - and females
Triple X Syndrome - sex chromosomes and genetic conditions.
Tuberous Sclerosis
Tuberous Sclerosis - information from the National Association of
Neurological Disorders and Stroke.
Tuberous Sclerosis - information from American Academy of Family Physicians
on how to recognize and treat the disease.
Tuberous Sclerosis - Fact Sheet
Top of Page
Urea Cycle Disorder
National
Urea Cycle Disorder Foundation - information about the disease, family screening
Vancouver
Hospital - definition, inheritance factors, treatment and resources
Wilson's Syndrome
Symptoms of Wilson's Syndrome
Wilson's
Syndrome - Q&A about Wilson's Syndrome also known as Wilson's Thyroid
Syndrome.
Wilson's Syndrome - account of the disease and the people who are susceptible to it.
Wilson's Syndrome - explanation of the disease and new research which may
affect treatment of the disease.
The
Doctor's Medical Library - very good article that clearly explains this
disorder
Vanderbilt
University - an in-depth look at this disease; includes diagnosis, treatment
and lab reports
William's Syndrome
William's Syndrome -
Facts about the syndrome from the William's Syndrome Association.
Williams's
Syndrome - PowerPoint presentation
William's Association - a very
good reference resource for information
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