Gourt > Health > Support Groups > Conditions and Diseases > Genetic Disorders
A genetic disorder, or genetic disease, is a disease caused by abnormal expression of one or more genes in a person causing a clinical phenotype. Some conditions labelled a disorder may confer an advantage. There are a number of possible causes for genetic defects:
- They may be caused by a mutation in a gene, affecting its function.
- There are genetic disorders caused by the abnormal chromosome number, as in Down syndrome (extra chromosome 21) and Klinefelter's syndrome (a male with 2 X chromosomes).
- Triplet expansion repeat mutations can cause Fragile X syndrome or Huntington's disease, by modification of gene expression or gain of function, respectively.
- Defective genes are often inherited from the parents. In this case, the genetic disorder is known as a hereditary disease. This can often happen unexpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant.
Currently around 4,000 genetic disorders are known; new ones are constantly discovered. The vast majority of these disorders are quite rare, and affect one person in every several thousands or millions. Cystic fibrosis is the most common genetic disorder; around 5% of the population of the United States carry at least one copy of the defective gene.
More on [ Genetic disorder ]
@megan_eb Mmmm, there are rare genetic disorders w/ compulsive eating but most overeating is more self-medicating for other issues.
AureliaCotta (Aurelia Cotta) Tue, 22 Dec 2009 14:47:37 -0000
@megan_eb Mmmm, there are rare genetic disorders w/ compulsive eating but most overeating is more self-medicating for other issues.
@dearthyroid I don't know whether the Lupus is genetic though i suspect that auto-immune disorders are - As the number of thyroid females
amethystdragon (Jo Corless) Tue, 22 Dec 2009 12:39:56 -0000
@dearthyroid I don't know whether the Lupus is genetic though i suspect that auto-immune disorders are - As the number of thyroid females
genetic cancer risk & gene identification in ppl w/ inherited bone marrow disorders & their families http://bit.ly/5y8uQH
_clinical_trial (Clinical Trials) Tue, 22 Dec 2009 06:46:37 -0000
genetic cancer risk & gene identification in ppl w/ inherited bone marrow disorders & their families http://bit.ly/5y8uQH
genetic cancer risk & gene identification in ppl w/ inherited bone marrow disorders & their families http://bit.ly/5y8uQH
newtrials_ (New Clinical Trials) Tue, 22 Dec 2009 06:22:39 -0000
genetic cancer risk & gene identification in ppl w/ inherited bone marrow disorders & their families http://bit.ly/5y8uQH
genetic cancer risk & gene identification in ppl w/ inherited bone marrow disorders & their families http://bit.ly/5y8uQH
ustrials (US Trials) Tue, 22 Dec 2009 06:22:34 -0000
genetic cancer risk & gene identification in ppl w/ inherited bone marrow disorders & their families http://bit.ly/5y8uQH
genetic cancer risk & gene identification in ppl w/ inherited bone marrow disorders & their families http://bit.ly/5y8uQH
goclinicaltrial (Clinical Trials) Tue, 22 Dec 2009 06:18:39 -0000
genetic cancer risk & gene identification in ppl w/ inherited bone marrow disorders & their families http://bit.ly/5y8uQH
Alliance of Genetic Support Groups - National coalition of consumers, professionals, and genetic support groups to voice the common concerns of children, adults, and families living with, and at risk for, genetic conditions.
Meta Description: [ Genetic Alliance increases the capacity of genetic advocacy groups to achieve their missions and leverages the voices of millions of individuals and families living with genetic conditions. ]
Chromosome 22 Central - Support group for families who have children with any chromosome 22 disorder, including trisomies, cat eye syndrome, translocations, deletions 22q11, 22q13, VCFS, Digeorge syndrome, rings and unique malformations.
Meta Description: [ A support group for families who have children affected by disorders involving chromosome 22. ]
Chromosome Deletion Outreach, Inc. (CDO) - Non-profit voluntary support group for families affected by rare chromosome disorders.
Meta Description: [ Chromosome Deletion Outreach, Inc. (CDO) is a non-profit organization for families affected by any type of rare chromosome disorder: deletions, translocations, trisomies, rings and inversions ]
Chromosome Help-Station - Information on rare chromosomal disorders. Support and advice for families.
Meta Description: [ The Chromosome Help-Station provides information
on people with anomalies on chromosomes as a reference guide for families, patients
and their organisations. ]
Cornelia de Lange Syndrome (CdLS) Foundation Outreach - Family support organization which exists to ensure the early and accurate diagnosis of CdLS, promote research into the causes and manifestations of the syndrome, and help people with a diagnosis of CdLS, and others with similar characteristics, make informed decisions throughout their lifetime.
Meta Description: [ The Cornelia de Lange Syndrome (CdLS) Foundation is a nonprofit [501 (c) (3)] voluntary health organization based in Avon, Connecticut (USA). The Foundation provides a host of services that attract, educate, and unite families touched by this rare birth disorder which causes individuals to develo... ]
Distal Trisomy 10q Families - Support for families of children with Distal Trisomy 10q. Family stories, contacts, other information.
Meta Description: [ Home page for Distal Trisomy 10q Support Group. Letter's from families, description, links, and papers. ]
Forum for Patients with Myotonic Dystrophy 2 - A forum for sharing information, increasing public awareness, and building advocacy for further research for patients diagnosed with Myotonic Dystrophy Type 2.
Meta Description: [ MyotonicDystrophy2: Myotonic Muscular Dystrophy 2 - PROMM ]
Ideas - A support group for families and professionals interested in the chromosomal condition known as isodicentric 15 (formerly inverted duplication 15).
Lafora body disease research talk - This is a discussion group about lafora body disease.
Meta Description: [ This is a group about lafora body disease also known as lafora disease.
It was set up to discuss medical research but over time it has turned into a general discussion and support group for lafora.
Anybody with a interest may join this group and discuss issues of interest to them. ]
Online Genetic Syndrome Support Groups - Sites are listed alphabetically by disease/condition.
Meta Description: [ Genetic Syndrome Support Groups Online Directory ]
Oto-Palatal-Digital Syndrome Family Resource Network - Resources, articles, support and general information on the rare disorder, Oto-Palatal-Digital Syndrome.
Parents of Polydactyly and Webbed Children - A support board for those parents of children born with extra toes/fingers as well as webbing. A place to learn new information and make friends with others
Meta Description: [ A community for those who have children born with extra toes or fingers (or webbing of either) ]
Peter's Anomaly Support Group - An online support group for people dealing with Peter's Anomaly.
Philadelphia, PA., Internet Support For Invisible/Hidden Disabilities - The Philadelphia, PA., Internetsupport For invisible/hidden disabilities.
S.O.F.T. - A United Kingdom support organisation for parents of infants with Trisomy 13 and 18 and other related disorders.
Meta Description: [ S.O.F.T UK provides support for families affected by Patau's Syndrome (Trisomy 13), Edward's Syndrome (Trisomy 18), partial Trisomy, mosaicism, rings, translocation, deletion, and related disorders. ]
S.O.F.T. - Support Organization in the United States for Trisomy 18, 13, and other related disorders. Provides literature, conferences, newsletter, chapter information, and international contacts.
The Rainbow - A forum for people who have chromosome abnormalites to show support, give advice and comfort.
Meta Description: [ The Rainbow is a teen support site on mental illness. ]
Trisomy 18 Angel - This site was made in memory of our daughter Abigail Renee, to help other families who have been given a diagnosis of Trisomy 18.
Meta Description: [ Our Trisomy 18 Angel - Abigail Renee. This site was created to help other families who have been given a Trisomy 18 diagnosis. ]
Trisomy 18 Moms - A place to list your Trisomy 18, Edwards syndrome memorial site , get help making a website, to share your unique story via the web.
Meta Description: [ A resource site for families of babies diagnosed with T18, Trisomy 18, Edwards syndrome to get help with building or listing a website. Telling your unique story on the web can help others. ]
Trisomy 18 Support Online Community - Participate in this support group for those pregnant with, parenting, or grieving the loss of child with Trisomy 18. Includes resources for all stages of the journey.
Meta Description: [ The Trisomy 18 Support Online Community is comprised of parents and those who support these families, personally and professionally. ]
Unique Rare Chromosome Disorder Support Group - Support and information for families of children with rare disorders.
Meta Description: [ Unique - Rare Chromosome Disorder Support Group for families affected by any rare chromosome disorder such as deletions, duplications, translocations, trisomy, monosomy, rings, mosaic, inversion, isodicentric, microdeletions, tetrasomy, monosomy, congenital, inherited ]
Who is EPI ? - The mission of the European Porphyria Initiative (EPI) is to present an up to date approach to the understanding of porphyria.
X-Linked Alpha Thalassemia M/R Syndrome - Features a Yahoo! group for family support for individuals caring for others affected by Alpha Thalassemia Mental Retardation Syndrome (ATR-X).
Meta Description: [ atr-x: X-Linked Alpha Thalassemia M/R Syndrome ]
Yahoo Groups Floating Harbor - An active support site for the parents and families of children with Floating Harbor Syndrome.
Meta Description: [ floating_harbor: Floating_Harbor_Group ]
Yahoo Support Group for CMT-HMSN-HNPP - A very active support group that prides itself on helping its members through the good - bad days and posting the latest CMT/HMSN/HNPP research information available on the web.
Meta Description: [ CMT-Support: CMT- Friends and Support ]
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