Through a variety of research programs and activities, the CdLS Foundation plays a major role in advancing clinical and basic scientific knowledge about the syndrome.
Research Holds the Hope to a Better Life
We believe that strategic investment in research is how we’ll achieve our vision of an enhanced quality of life for CdLS patients. Since its inception, the Foundation has been at the forefront of CdLS research, connecting researchers with families, as well as funding research studies. Because of our connections to patients and researchers, we can advance a comprehensive research program, defeating CdLS from all sides.
All CdLS Foundation-sanctioned research activities are approved by the Research Committee, a team of doctors, researchers and parents. This ensures that patient confidentiality and trust are protected, and that researchers operate with patients’ best interests in mind.
Basic science research—often called fundamental or bench research—provides the foundation of knowledge for the applied science that follows. Basic research is the first step in developing enhanced treatments for CdLS by investigating the biology and cause of CdLS to identify the most effective strategies for drug discovery.
This type of research encompasses familiar scientific disciplines such as biochemistry, microbiology, physiology, and pharmacology, and their interplay, and involves laboratory studies with cell cultures, animal studies or physiological experiments. Basic science also increasingly extends to behavioral and social sciences as well, which have no less profound relevance for medicine and health.
The CdLS Foundation has been investing in basic research for many years. Since 2008 alone, we’ve awarded 24 small research grants totaling $300,000.
There is some research that involves animal models, specific cells, molecular tools, gene manipulations and chemical studies. This is considered basic science research, and often leads to the discovery of new genes or new functions of genes, as well as treatments for mutations in genes.
Other research can be more practical for the day to day lives of children and adults with CdLS. This can involve aspects of feeding, digesting, communicating, growing, living in good health, preventing certain conditions and aging. This is known as clinical research and can have a huge impact with relatively low cost.
Partner with the CdLS Foundation
There may be many possibilities for treatments addressing the many needs of children and adults with CdLS. For example, physical therapists, who may have determined the right kind of physical therapy in CdLS, will need to have ways to interact with individuals with CdLS. When the ongoing animal model research has shown that there are possible medications or drugs that could potentially help individuals with CdLS, trials may be offered to families. At that time, the researchers will request volunteers with CdLS using the knowledge and help of the Foundation. The Foundation can help ensure safety, through our Research Committee, by confirming the results of the prior work and animal studies, and having the ability to notify and contact families directly.
Participate in Research
Through a variety of research programs and activities, the CdLS Foundation plays a major role in advancing clinical and basic scientific knowledge about the syndrome. Since its inception, the Foundation has been at the forefront of CdLS research, connecting researchers with families, as well as funding research studies. All CdLS Foundation-sanctioned research activities are approved by the Research Committee, a team of doctors, researchers and parents that ensures that patient confidentiality and trust are protected, and researchers operate with patients’ best interests in mind.
Research in CdLS has not only consistently provided families with explanations for the symptoms and behaviors their loved one experiences, but also new ways to help improve their quality of life.”
Richard Haaland, Ph.D.
Chair, CdLS Foundation Research Committee
The 2022 Small Grants Program has been suspended due to the ongoing worldwide pandemic. It is the goal of the CdLS Foundation to begin awarding small grants in the near future to researchers investigating the causes and treatments of CdLS to help individuals with CdLS overcome many of the obstacles they face.
Please check back in the fall of 2022, and going forward, as we will have an update then.
If you have additional questions, please feel free to contact Bonnie Royster at outreach@CdLSusa.org.
Since 2004, the Foundation has sponsored an exciting symposium in conjunction with its biennial National Family Conference. The CdLS Scientific Symposium is the largest gathering of CdLS experts from around the world. Find out the date and location of our upcoming conference, submit abstracts and read about past conferences.
The Foundation remains a source of support and information for families and a passionate collaborator for researchers and professionals.
The CdLS Foundation provides a range of research articles, most of which are accessible through PubMed.
Research in the News
When CdLS research is featured in the news – it will be at your fingertips.
International Treatment Protocols
Due to the great variability of the CdLS spectrum, as well as in the care and management of individuals, a group of international experts have formed the “International CdLS Consensus Group” to make a series of recommendations.