Smith-Magenis Syndrome -Taylor Bug Kisses Foundation

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Natural History Study

Tha National Institute of Health continues to study the growth patterns of individuals with SMS. For more information click here.

Smith-Magenis syndrome Lab Mice

In August 2000 the first genetically engineered mice with SMS were born in Baylor College of Medicine.  Lorraine Potocki, M.D. FACMG continues to study these mice with the anticipation they will provide a better understanding of the genes in this region.  

Dr. Potocki is still actively recruiting individuals with small or unusual-sized deletions of 17p11.2, for the purpose of molecular (DNA) analysis of the SMS region.

To learn more about Dr. Potocki’s research or to contact her click here.

Behavioral Study

The Burkhart Center is conducting a study on common patterns of problem behaviors exhibited by children and adults with Smith-Magenis Syndrome, Autism, and Cornelia de Lange Syndrome and we are asking for your help.  We want to know the types of problem behaviors (e.g., aggression, self-injury, property destruction) that occur most commonly across these three developmental disorders. 

This study is now closed and data is being analyzed. 

 Sleep Study

Sarah H. Elsea, Ph.D. FACMG at Virginia Commonwealth University is currently examining the impact of sleep disturbances of individuals with Smith-Magenis syndrome and Potocki-Lupski syndrome (RAI1 disorders) and their caretakers. The goal of this study is to gather information of sleep habits and activity of individuals with SMS and PTLS with the objective being to implement tools and therapies to improve sleep and success in their daily life.  The information gathered will also provide background data needed to support additional studies of the circadian rhythm in individuals with SMS and PTLS. To read the full summary of this study click here for the PDF file.

Participation for this study is now closed.  Data is now being analyzed.

 

Social Behavior Study

Lucy Wilde a Ph.D. student and her Professor Chris Oliver at the Cerebra Centre for Neurodevelopmental Disorders at the University of Birmingham have started researching the social behavior of individuals with Smith-Magenis syndrome. 

This study is now closed and data is being analyzed. 

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Monday, Jun 4 at 12:00 PM - Thursday, Jun 7 12:00 PM

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Disclaimer

Information on this site is intended for a general overview and for educational purposes. Information on this site is not intended to nor does it, constitute medical or other advice. Always consult with a physician before acting on any information you have read. Medical treatment for each individual should be in accordance to and followed by the patient's physician.