English
Español
Participate in Seizure Research
STUDY SEEKS FURTHER CAUSES OF DRAVET SYNDROME
Mutations in the sodium channel gene SCN1A are understood to contribute to between 50 percent and 80 percent of cases of Dravet syndrome. This leaves another 20 percent to 50 percent of patients and families—and their physicians—baffled and without an explanation for their severe seizures. A new research project hopes to uncover the answers these families and doctors desperately need and further the understanding of this devastating condition.
The study, being conducted by Gleeson Neurogenetics Laboratory, employs a new technology that allows scientists to sequence every coding gene in the human genome at one time. Researchers at the lab will apply this knowledge toward discovering and identifying additional genes that contribute to Dravet syndrome and, in turn, these discoveries may lay the foundation for future disease-specific therapies and possibly a cure.
IDEA League families who have tested negative for a mutation in the SCN1A gene are encouraged to take part in this important study and assist in broadening the understanding of the causes of Dravet syndrome. Participation includes contributing relevant medical information as well as DNA sample(s) through either blood or saliva. Results of the study can be sent to the patient’s physician upon request. For more information about this study, or to participate, please click on the link below.
The IDEA League extends thanks to Joseph Gleeson, MD, Tracy Dixon-Salazar, PhD, and everyone at Gleeson Labs for their dedication in delving further into the etiology behind Dravet syndrome and helping to find answers for children and families struggling with this challenging condition.
HANDS AND FACE SIMILARITIES STUDY
The IDEA League is pleased to announce a new research study led by Dr. Kathleen Nolan, Dr. Carol Camfield, and Dr. Peter Camfield. Dr. Nolan is a pediatrics resident at the IWK Health Centre in Halifax, Nova Scotia, Canada, while Dr. Carol Camfield and Dr. Peter Camfield are members of the Division of Neurology at the same institution. The Camfields are members of the Medical Advisory Board and have always been generous supporters of the IDEA League.
The goal of the study is to determine whether there is a specific appearance unique to individuals with Dravet syndrome. To do this, they will inspect photographs of children with Dravet syndrome and compare them to photographs of unaffected siblings.
The full details of the study are outlined in the Information and Authorization Document below. In brief, there are two parts to the study and you may participate in either or both parts. For the first portion of the study you will be asked to submit two photographs of your child’s face and a photograph of each hand. If your child has a sibling who is not diagnosed with Dravet syndrome you will be asked to send the same four photographs of that child. The investigators will measure specific areas of your child’s face and hands from the photographs you provide and compare those measurements of photographs of unaffected siblings to see if there is a difference in their facial and hand measurements.
In the second portion of the study the facial photographs will be compiled into a booklet and distributed to a select group of pediatric neurologists across North America. The reviewers will be asked if they are able to identify the children in the booklet with the same syndrome. In this way, the investigators hope to determine whether there is an overall facial appearance unique to children with Dravet syndrome.
Should you have any questions and would like to participate in the study please feel free to contact the IDEA League at info@IDEA-League.org
Get out your cameras!!