Long-term outcomes for patients with Dravet syndrome can vary quite a bit. Some patients may have more significant impacts on cognition or speech, while others may struggle most with behavioral or sleep challenges. There can also be differences in the age of onset, the types of seizures that are present, the severity of seizures, and the medication response. For example, while the medications that seem to work best in Dravet syndrome have been outlined by experts, each individual may do best on a slighty different combination of medications; some patients may go seizure-free for long periods while others struggle to find decent seizure control; and the impacts of side effects may also differ greatly. Researchers have worked for quite some time to try to uncover answers for why there is so much variability from one patient to the next. Initially they investigated if more could be learned by looking at the type and locations of mutations along the SCN1A gene; but no clear correlations could be made from just that information. Even two patients with the exact same mutation can have different presentations of symptoms; even within a single family. Some studies have begun to show that the make-up of the rest of a person’s DNA (also called the ‘genetic background’) can play a significant role in the severity of symptoms from a disease-causing mutation. To better understand how this may play a role in how symptoms present for patients with SCN1A+ Dravet syndrome , DSF has funded the Dravet Genome Study to collect whole-genome sequencing from 500 patients and pair it with clinical data.
To date, 223 families have already contributed samples to the Dravet Genome Study, but we still need to make it to 500 participants!
Participation requires an at-home cheek swab and release of medical records. Contact scn1a@chop.edu to learn more and join the project!
Awarded at the end of 2023, this project represents DSF’s largest-ever grant award in the amount of $1 million directed to researchers at The Children’s Hospital of Philadelphia (CHOP). They are collecting DNA samples by sending caregivers at-home cheek swab kits with pre-paid return postage. Participation also requires a release of medical records so the research team can build a clinical profile to match with the genomic data. The community has already shown up in a big way! They have 223 families that have already sent in samples, meaning we are almost 45% of the way to 500 participants! If you have not already joined the effort, you can contact the study team at scn1a@chop.edu to learn more about how to participate.
This new study marks a major milestone of investment from DSF in a research project that holds importance to the patient-family community and creates a forward-thinking resource of data that can be re-examined and expanded upon in the future. We hope that the data will provide answers and insights into some of the outstanding questions about Dravet syndrome and help to stimulate new research ideas that will further our understanding and treatment of Dravet syndrome.
Learn more about the Dravet Genome Study here
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