Research

Laura Conlin PhD - post doctoral
fellow working on r(20)

Nancy Spinner PhD

The Foundation is currently engaged in two important international research studies which are being overseen by its principal medical and scientific advisor, Dr. Syed Hosain.

International Genetic Study

The Ring Chromosome 20 Foundation is pleased to announce that the Spinner Laboratory at The Children's Hospital of Philadelphia (CHOP) is beginning an exciting new research project to analyze the ring chromosome 20. This ring chromosome will be studied at the molecular level in order to understand how it is different from the normal (non ring) chromosome 20 and possibly why patients with this ring exhibit certain medical conditions.

The Genetic Analysis of Ring Chromosome 20

"Our hope is that the results will provide the basis for further investigation, allowing us to better understand the causes behind r(20) syndrome and bring us all closer to establishing future treatment protocols. The initial goals of this genetic research study are to understand the gene changes caused by the formation of the ring chromosome 20. We hope that this will lead to better diagnosis and increased understanding of how these changes cause the clinical conditions that patients experience, and that eventually it will lead to better treatments.”Nancy Spinner, PhD - Children's Hospital of Philadelphia

• Bench to Bedside newsletter

Genetic Research Study Forms

• Instructions to participants- Summary
• Laboratory Sample Request Form
• Clinical Information Form
• Medical Information Form
• Patient Consent for Medical Photography Form
• Consent Form
• Shipping Reimbursement Form

Clinical Research Study

Syed Hosain MD

Phenotype Characterization of Ring Chromosome 20 Epilepsy Syndrome

With the support of the r(20) Foundation we are initiating a clinical study to collect detailed clinical information on as many patients as possible around the world with this disorder. Little is known about the true phenotype of r(20) syndrome and the published literature is limited so this study has been designed in a simple questionnaire form which will be completed by the parents, with the participation of their primary physicians.

"Once we have collected and analyzed the information, we hope to be able learn more in order to provide practical information to the families and physicians who care for patients with this difficult to treat disorder.”Syed Hosain MD, Medical Advisor Ring 20 Chromosome Foundation

Clinical Study Forms

• Summary Sheet
• Invitation to Clinical Study
• Release of Medical Information
• Phenotypic Characterization Questionnaire
• Shipping Reimbursement Form

For more information or updates on the Foundation's ongoing research please contact:
Pierra Le Gorrec on (718) 230 8042 or (877) 207 5520 (toll free). Email: info@ring20.org

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