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.
When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder
(MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease.
They did not know how to treat her.
Calls were made to Greenwood Genetic Center to confirm her diagnosis...