The Epilepsy Phenome/Genome Project
Time 2022-09-29 18:30:01Web Name: The Epilepsy Phenome/Genome Project
WebSite: http://www.epgp.org
ID:333876
Keywords:
Epilepsy,The,Phenome,ProjectDescription:
HomeFAQPress ReleasesPublicationsParticipant Resources Visit the publications page for the latest findings and the resources page for new projects!Newsletters
May 2013: We are thrilled to report that over the 7 years that EPGP was enrolling and phenotyping, our final dataset contains 4,199 people with epilepsy and their family members and more than 38,000 study activities (interviews, EEGs, blood samples, etc)—more than 6.9 million data points. Together we have worked to create, in EPGP, a scientific resource that is changing the way we think about genetics of epilepsy. In the Infantile Spasms cohort, two entirely new genes were discovered, and in the polymicrogyria cohort, one entirely new gene was discovered.
June 2015: Since our last newsletter, the EPGP investigators have continued studying the genes in EPGP. In Epi4K Project 1, the EPGP cohort contributed to new gene discoveries: two new genes showed association with epileptic encephalopathies (GABR3 and ALG13), and many other genes (CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L) also had de novo mutations The group has also shown that de novo mutations observed are enriched in specific gene sets, including genes regulated by the fragile X protein. The investigators are continuing to look for new gene discoveries in the families with infantile spasms, Lennox-Gastaut Syndrome, and polymicrogyria and periventricular heterotopia, as well as the families with generalized and focal epilepsies.
About the Epilepsy Phenome / Genome Project
Thank you!
Discoveries continue to emerge from the EPGP project because of the contributions of thousands of people worldwide -- research participants, families, patient advocates, doctors, nurses, study coordinators, and other researchers -- who all shared a commitment to epilepsy research and to improving the lives of people with epilepsy. Even though EPGP has completed its enrollment, studying the genes of EPGP will continue for many years to come.
It is our partnership with ongoing research projects that creates information today—from which tomorrow’s discoveries emerge! By continuing to work together, we can continue to build upon the already remarkable resource that we worked so hard to build—and continue to bring light to the questions that we all ask:
- Why do I have epilepsy?
- Will my treatments work?
- Will I eventually no longer have epilepsy?
Patient-Centered Research
An important aspect of the EPGP team’s ongoing work is striving toward patient-centered research. A team of research staff, scientists, and patients from EPGP and other research projects are working together to address a number of questions, such as:
How can we make research projects more patient-friendly? How can we get discoveries to patients faster? How can we help research participants with similar diseases connect with each other to share information and improve their health care? How can we encourage more doctors and hospitals to participate in and offer research projects to their patients? How can we improve the ways that patients get information about research projects, so that they have a opportunity to participate in research that is right for them? What kinds of benefits can research projects provide to study participants?Precision Medicine
Precision medicine is developing treatments tailored to individual patients, based on their genetic, clinical, and risk factor profiles. The EPGP/Epi4K Consortium is working to obtain genetic findings that will translate into “precision” medicine for patients with many types of epilepsy. In this new paradigm, every patient can be compared against data and historical information from many other individuals with biomarkers like theirs, thus enabling their doctors to better predict how the patient will fare and to better match treatments to the individual patient.
In the field of epilepsy, recent advances in fields such as genetics, neuroimaging, stem cell biology and model systems are beginning to provide guidance when a doctor is choosing from existing therapies or wants to develop new therapies. These advances, combined with the increased ease with which clinicians, scientists, and patients can work together collaboratively, have set the stage for a new era in epilepsy care in which some day more patients will benefit from having a highly accurate diagnosis of the cause of their epilepsy and, as an extension, an etiology-specific treatment plan.
On September 29-30, 2014, EPGP, Epi4K, and other investigators from around the world came together in a Precision Medicine Conference to map out a strategy for accelerating the pace with which this goal can be achieved. Scientists, clinicians, patients, and government officials discussed the key challenges to achieving precision medicine for epilepsy and mapped out strategies to address these challenges—including new research collaborations, protocols for excellence in patient care, and immediate actions that can improve many facets of genetic testing and information for patients, providers, and the health care system overall.
This group grew in size and met at the American Epilepsy Society Meeting in December 2014, and decided to form a worldwide collaboration of research projects. This new project will be known as Epi25 and is comprised of moreo than 39,000 participants with epilepsy from 52 of the largest epilepsy research projects in the world. Last month, the Epi25 Consortium supported an application by the Broad Institute (a large genetic sequencing center) to whole-genome-sequence 25,000 people with various diseases—a project that would be funded by the National Human Genome Research Institute (NHGRI) / National Institutes of Health (NIH). Many of those participants may come from the EPGP group! This new project will develop throughout 2015 and 2016, and newsletters on this web site will keep you up to date with new information.
Please visit our newsletters and publications pages for more of our latest findings, or explore our participant resources page for more information about epilepsy and research.
Content copyright 2015 Epilepsy Phenome/Genome Project. From modified CSS template by SymiSun*
TAGS:Epilepsy The Phenome Project
<<< Thank you for your visit >>>
Websites to related : The Heathered Nest
Start HereAboutBlogNesting e-designShopContactBrand Partnership InfoPrivacy & PoliciesMenuDIYLightingPaintingChristmasOrganization and StorageIke
MonsterZine: The Horror Movie Ma The Horror Movie Magazine You CanReally Sink Your Teeth Into
current issue • archives • contents • search • subscribeIssue #1
Therdex PVC vloeren | Therdex PV
Over TherdexCollectieDuurzaamheidInspiratieContactDealersstalenaanvraag0Succesvol toegevoegd.Over TherdexCollectieDuurzaamheidInspiratieContactDealers
the low countries - high road toen www.the-low-countries.com nlwww.de-lage-landen.com
Showroom Directory - theMARTMcPherson Church of the Brethren
HomeAbout UsChurch CalendarChurch MinistriesContact UsJesus in the NeighorhoodWorship BulletinNewsNews & AnnouncementsY
Projects | Jon Naiman PhotographJon NaimanNewsProjectsArc-Trench ComplexArchitecture ModelsArchitectureFlight ControlAlternating CurrentRecapitulationRelease FormFlatlineArc-Trench C
Interviews - The Scott Horton SAboutLibertarian InstituteInterviewsArchivesArchivesScott’s ArticlesLarisa’s ArticlesFair UseStress BlogVideosScott’s SpeechesDocume
City Plaza – The Best HoteHomeΕλληνικαDeutsch Menu 39 months City Plaza: the end of an era, the beginning
adsHot Websites