Lerner Institute Research Project

Article written at Cleveland Clinic - June 2017

Understanding Global Developmental Delay 

Global Development Delay (GDD) includes a group of highly prevalent birth defects that affect infants and toddlers who develop at a slower cognitive, physical, and social pace than their peers. While some children catch up to their peers, others develop an intellectual disability or autism spectrum disorder. GDD reportedly impacts 2.5% of the population, but its occurrence is likely underreported or misdiagnosed. There is no known cure, largely because it has received until today too little attention from the clinical and scientific research communities. 
Veronique Lefebvre, Ph.D., an esteemed scientist at Cleveland Clinic Lerner Research Institute, and her team are among few worldwide who have the ability to make advanced discoveries in this disease area, specifically by linking a SOX5 gene insufficiency to GDD as an agent in brain development. Her proposed research program aims to further explore this relationship and contribute broadly to current understanding of this disorder. 

Research Designed to Impact Patients and Families

Dr. Lefebvre and her team have proposed the following research goals to advance discovery in GDD, (which includes Lamb-Shaffer Syndrome): 
·         Explore how and why a SOX5 insufficiency impacts early brain development 
·         Understand the molecular pathways involved to develop potential targets for treatment
·         Elevate and expand the field as a whole, generating preliminary data to garner attention from grant making entities 

Your Philanthropic Partnership

As an international leader in medicine, Cleveland Clinic has an expansive reach in developing health strategies. However, medical research is costly and time consuming—patients and families can’t afford to wait a lifetime for answers. Your philanthropic support allows scientists like Dr. Lefebvre to test an innovative idea in the lab and leverage discoveries into treatment and cures. 
We can’t do this alone. Your philanthropic support allows us to pursue research efforts that will shape the future of global healthcare. Thank you for your partnership. We can make a difference together.

 For more information on how to contribute, please visit www.harpersquest.org/give

Lamb-Shaffer Syndrome

Lerner Research Institute

Use the button below to visit the OMIM database (authored at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins
University School of Medicine).
Use the button below for more information
on the Lerner Research Institute and
Dr. Veronique Lefebvre, Ph.D.

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