News
Ring chromosome 20 syndrome
The genetic study will be conducted by Nancy Spinner, PhD at the Children’s Hospital of Philadelphia (CHOP). The goal of this study is to better understand the genetics and causes behind r(20) syndrome in the hopes of establishing future treatment protocols.
The clinical study will be conducted by paediatric neurologist Syed Hosain, MD in New York City and through an extensive questionnaire will attempt to gather as much information about the disorder as possible in order to determine how it can better be diagnosed and treated.
Ring chromosome 20 syndrome is a rare condition which causes epilepsy. People with r(20) syndrome have poorly controlled seizures and often go undiagnosed since chromosomal analysis is not a routine test with difficult-to-treat epilepsy.
The Ring Chromosome 20 Foundation provides information and support to families affected by the syndrome and works to improve the lives of people with ring chromosome 20 syndrome.
If you would like to find out more about the projects, please visit their website www.ring20.org and click on “Research”.