Rett Syndrome Awareness Month officially ends today, but we encourage everyone to continue to learn more about this genetic disorder and support this amazing
community which includes families such as the Gunns and the Croissants . We continue our research and clinical care and are excited to
also share information regarding a new book on the subject.
Dr. Walter Kaufmann , Director
of the Center for Translational Research and Ravenel Boykin Curry Chair in Genetic Therapeutics at the Greenwood Genetic Center, has edited a book
on Rett syndrome. The book, Rett Syndrome, is part of the Clinics in Developmental Medicine Series from MacKeith press.
This book is aimed at clinicians and researchers as an overview of the clinical and genetic features of Rett syndrome as well as current status of therapies.
Dr. Kaufmann discusses the book below.
We will remember February 26th for the rest of our lives.
On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome.
Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort
to get Ella some assistance. Along the way, we were sent to GGC and met with Dr. Roger Stevenson ...