The Doose Syndrome Epilepsy Alliance in coordination with the Gene Partnership at Children’s Hospital Boston and the Manton Center for Orphan Disease Research is proud to announce a new research project.
This is an exciting step for us. If your child has a Doose syndrome diagnosis (myoclonic astatic epilepsy aka epilepsy with myoclonic atonic seizures) then we want you! This is a new sequencing pilot project for clinical and research use. This initiative will allow for investigators at Children's Hospital, with approved IRB protocols, to submit samples for whole genome sequencing or exome sequencing. An inadequate understanding of Doose syndrome’s underlying causes is the greatest obstacle standing in the way of new treatments and cures for orphan diseases, like Doose syndrome. Many disorders are lumped together under a single diagnostic umbrella, making it difficult for physicians to identify appropriate and safe treatments. Further studies could uncover an underlying genetic flaw and open avenues of research to treat or correct the error.
Instead of individual scientists working in "silos" to understand specific orphan diseases, the Manton Center fosters collaborations between investigators to share ideas, resolve common challenges and attack orphan diseases from multiple perspectives. The Manton Center's environment also attracts new experts and resources to address challenging issues, accelerating the discovery process.
Armed with the necessary research tools, financial support and collective determination, investigators at Children's Hospital have created an interdisciplinary program to narrow the gap that separates the study of orphan diseases from mainstream medical research.
The first step to involve yourself in this critical research is to register your interest with Heather Jackson at firstname.lastname@example.org. Please call directly at 719-491-7340 if you have further questions. From there I will connect you with our contact to ensure that all of the data on our Doose syndrome children is submitted and ran together, which will strongly increase the probability of making links. This research will be conducted at no cost to you, however the investigators will have to coordinate orders for blood work with your physician.
Doose Syndrome Epilepsy Alliance
What if my child has "probable Doose syndrome" or their diagnosis has changed? Please by all means please register.
What if I am not in the US? No problem we will work with your physician to ensure participation.
What if I am not a patient at Children's Hospital Boston? Not a problem, you will consent.
Will I have to travel? No, you will do the blood work at your local lab with orders from the Manton Center.