Meet the Advisory Board

Current SMS Research

Research Registry & Tissue Bank

SMS Mouse Model

Participate in a new research study for the SMS community!  If you perform the majority of caregiving duties for a child with Smith-Magenis syndrome, you are eligible to participate.  All you have to do is fill out a survey and you will be entered into a drawing for one of two $100 gift certificates for Amazon.com.  Fill out our survey on the internet (click here for survey ) or contact us for a paper-based survey (Sarah Elsea, Ph.D. at selsea@vcu.edu).

GROWTH PATTERNS in SMS
NIH is working to develop syndrome specific growth curves for SMS. Data gathered to date on 68 children with SMS show the following growth patterns:

• Most infants with SMS are born at term and have normal birth parameters for length, weight and head circumference.
• During the first year of life, Infants with SMS show a decline in weight & height from normal birth range to less than or equal to 5%tile;
• By age 8-9 years, heights are within the normal range (approx 25%tile) and weights are higher for boys than girls.
• Weight gain to levels suggesting obesity (>95%tile) is frequently noted after age 9 years with onset of puberty.
  

Additional growth data is needed to complete the project, especially for children from age 4 years into their teens and final adult height. Parents willing to provide growth measurements on their child with SMS (heights, weights and if available head circumference) are encouraged to down load the SMS Growth Curve form.

 

Current SMS Research

Baylor College of Medicine : Clinical and molecular research on SMS continues to be active at Baylor College of Medicine and the Texas Children's Hospital. The first genetically engineered mice with SMS were born in August 2000. Hopefully these mice will provide a better understanding of the genes in this region. While patient enrollment for SMS clinical research at Baylor is now limited to those individuals with small or unusual-sized deletions of 17p11.2, Dr. Lorraine Potocki is actively recruiting all SMS patients (and their parents) for the purpose of molecular (DNA) analysis of the SMS region. If you would like to participate in their research studies, please visit the Baylor web site, contact Dr. Potocki via email (lpotocki@bcm.tmc.edu), or call her at (832) 824-4292 .

National Human Genome Research Institute, National Institutes of Health : Building on the unique scientific expertise available at the National Institutes of Health (NIH), an inter-disciplinary SMS Research Team of clinical and basic science researchers was established to conduct pioneering, state-of-the-art research to further our understanding of this complex rare microdeletion syndrome. Ann C.M. Smith, M.A., D.Sc. (hon.), co-discoverer of the syndrome, serves at the principal investigator of the NIH research protocol entitled, "Natural History Study of the Clinical and Molecular Manifestations of Smith-Magenis Syndrome (SMS)" (01-HG-0109).  The primary goal of the NIH SMS research study is to gain a better understanding of the range and type of medical problems that occur in SMS and how they change over time. The NIH study has a special focus on defining the underlying speech, language and behavioral aspects of SMS, as well as trying to understand its natural history.  Click here to read more about this program, or send an email to Ann C.M. Smith (acmsmith@mail.nih.gov) for further information.  In addition to these clinical aspects, the NIH research includes a basic science component to study the SMS deletion interval of 17p11.2. To this end, a SMS Research Registry and Tissue Bank has been established at the National Human Genome Research Institute at NIH. The SMS Tissue Bank permits ongoing and future collaborative studies to elucidate the gene(s) and mechanism(s) underlying SMS.

Virginia Commonwealth University : Projects in Dr. Sarah Elsea's lab are focused on the molecular analysis of chromosome 17p11.2 deletions and the identification and analysis of the genes involved in SMS.   The goals of the various studies are to identify and characterize the genes most critical to the syndrome.   For this reason, Dr. Elsea is interested in the evaluation of small and/or unusual deletions involving chromosome 17p11.2.

 

Recent studies in Dr. Elsea's lab led to the identification of the RAI1 gene as the primary culprit in SMS.   Mutation or deletion of this gene can lead to Smith-Magenis syndrome.   The precise function of the RAI1 protein is not yet clear.   Studies in the lab are also focused on determining the normal function of this protein in the cell and in development and behavior.  

 

While Dr. Elsea is interested in all 17p11.2 deletions, she is particularly interested in individuals who have clinical features of SMS but who do not have a documented chromosome 17 deletion.  

Evaluation of the RAI1 gene in persons fitting these criteria can be performed on a research basis. For more information, call Dr. Elsea at (804) 628-0987 or send an email to selsea@vcu.edu