Less than 20 individuals with mutations in SMS and Snyder-Robinson syndrome are reported in the medical literature and clinical genetics databases. Therefore, details about the clinical features and natural history are lacking, and disease-specific management and intervention is limited. Detailed and longitudinal characterization of patients will aid the prediction of likely outcomes and inform disease management.
The Snyder-Robinson Foundation has provided a critical role in gathering information about affected individuals through the creation of a registry. The overall aims of our research are:
- Identification of individuals with mutations in SMS.
- Characterization of the clinical spectrum.
- Determine the natural history of disease through collection of longitudinal data.
- Perform genotype-phenotype correlation analysis for potential mutation-based patient stratification.
- Delineate surveillance guidelines for individuals with Snyder-Robinson syndrome.
- Promote already established collaborations with basic and translational researchers to find a treatment for Snyder Robinson patients.
We invite collaborations through the submission of clinical and genetic information, which can be uploaded directly onto to this website’s database. We appreciate clinical photographs if available.
Instructions for the clinician involved:
- Please request written consent for the use and storage of medical information with or without photographs, or contact the Snyder-Robinson Foundation for the specific consent to be included in the Registry.
- Enter the clinical information using the submission interface.
- E-mail photographs to Angela Peron at angela.peron@unimi.it or Charles Schwartz at charles.schwartz224@gmail.com.
- Post or e-mail the consent form and/or images to the contact below. *
Any additional questions or enquiries should be directed to:
Angela Peron, MD
Centro Epilessia (9° piano, blocco B)
Ospedale San Paolo
Via di Rudinì 8
20142 Milano, Italy
Phone: +39 02 8184 4201
Fax: + 39 02 5032 3159
e-mail: angela.peron@unimi.it /angela.peron@hsc.utah.edu
Charles E. Schwartz
317 Creek Road West
Greenwood, SC 29646
1-864-377-0047 (mobile)
Email: charles.schwartz224@gmail.com
*Please use email encryption if available.