- Last Updated on Tuesday, 18 August 2015 20:51
GeneSpark.org is a new international non-profit foundation which is focusing on the development and advancement of drug treatments for Intellectuial disabilities, but with an initial focus on Kleefstra syndrome. GeneSpark.org was co-founded by Hira & Neha Verma and Andy & Lindsay Klump. The Verma and Klump families both have children affected by Kleefstra syndrome.
Unique is a source of information and support to families and individuals affected by any rare chromosome disorder and to the professionals who work with them. Unique is a UK-based charity but welcomes members worldwide and membership of Unique is free. They have also been a big help in the production of this website, giving permission for us to use parts of their leaflet on Kleefstra syndrome to populate some of the pages.
The leaflet can be downloaded from here under the Chromosome 9 section.
The Journal of Medical Genetics gives you free access to many very technical articles including those which reference 9q34.3 deletion. It is geared for health professionals and researchers in genetics, but it can be a fascinating read. You need to register on their site, but membership is free.
Chromosome Disorder Outreach, Inc. is a non-profit organization, founded, supported, and run by parents just like you and based in the US. Our children are affected by a wide range of chromosome disorders, including deletions, duplications, trisomies, inversions, translocations, and rings.
Easter Seals provides exceptional services, education, outreach, and advocacy so that people living with autism and other disabilities can live, learn, work and play in our communities.
Provided by the American Academy of Pediatrics this allows you to build a notebook of your own and is designed to help parents/caregivers maintain an ongoing record of their child's care, services, providers, and notes.
LEONA e.V. is a support group for families of children with rare chromosome disorders active in German-speaking countries. We accompany the families during pregnancy, in every day life and also when they have lost their child. We are focusing on connecting families as well as on the exchange of information and experiences between the affected families.
Genetics Home Reference is the US National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions. They provide consumer-friendly information about the effects of genetic variations on human health.
A Life With Riley is simultaneously heart-warming and heart-rending. It follows the twists and turns of a medical mystery, while showing how the power of maternal instinct can turn a young, inexperienced mother into a ferocious warrior—a woman who bucks the educational system, fights her way through a medical quagmire, overcomes her prejudice against alternative medicine, psychics, and astrologers, and learns to let go of the importance of being “normal.” Riley was diagnosed with Kleefstra syndrome at age 13.