After a successfully conducted research “An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery” a team of renowned scientists, bioinformaticians and IT professionals has focused on engaging clinical research institutions promoting the Program’s principles to democratize access to undiagnosed diseases research and treatment via open collaboration and efficient gene discovery.
An association was established to follow the crowdsourcing strategy.
An open source project is being developed to support the integrated clinical program methodology.
We welcome research institutes, clinical organizations and concerned individuals. Please contact us for details.
We are open to the new members joining our efforts to democratize new genes discovery and to improve rare diseases treatment. Please contact us for details.
Undiagnosed Rare Diseases
Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients can live months, years or even the decades with the undiagnosed or misdiagnosed conditions. Obtaining a diagnosis is a difficult journey, costing patients and society a lot of suffering, time and money. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple healthcare specialists.
Availability of the modern more effective precision medicine tools is currently restricted to a handful of patients lucky enough to have access to exclusive prominent institutions. Solving genetic cases via broad collaboration with the research community and crowdsourcing benefits patients lows costs for healthcare providers and promotes research through discovering more clinically valid genes.
Gene Discovery through Crowd-sourcing
As part of Brigham Health Genomic Medicine program, an integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery was designed and is being implemented at the various clinical research organizations in the US and worldwide.
Haghighi, Alireza et al. “An Integrated Clinical Program and Crowdsourcing Strategy for Genomic Sequencing and Mendelian Disease Gene Discovery.”
This program employs specific case ascertainment parameters, a WES/WGS computational analysis pipeline that is optimized for Mendelian disease gene discovery with variant callers tuned to specific inheritance modes, an interdisciplinary crowdsourcing strategy for genomic sequence analysis, matchmaking for additional cases, and integration of the findings regarding gene causality with the clinical management plan.
Founded by BGM as part of the interdisciplinary crowdsourcing strategy, the association facilitates an open collaboration for the undiagnosed rare diseases research and patient cases faster resolution by discovering novel genes via crowdsourcing and bioinformatics tools development.
If you would like to join the association, please contact us for details.
TASKS AND PRINCIPLES
Knowledge sharing and collaboration
Facilitate knowledge sharing and collaboration in undiagnosed rare disease gene discover
Onboard institutions, groups, researchers, geneticists, and biologists to support broader collaboration
Promote cross-institutional and cross-border clinical research crowdsourcing for undiagnosed mono and polygenic diseases for specific patient cases
Promote the adoption of genomic medicine into clinical routine through the broad education of physicians and researchers to recognize potential genetic diseases
Speed and efficiency
Enable faster patient cases resolution by connecting the most relevant experts in the most efficient way
Whole genome sequencing will become a routine clinical practice in the next 5 years for monogenic and polygenic diseases.
Forome platform is an open source project, aiming at democratizing the clinical research process for the complex hereditary diseases where traditional genomic protocols and analytical pipelines fail to deliver.
WE ARE CURRENTLY FOCUSED ON DEVELOPING THE FOLLOWING PLATFORM COMPONENTS,
SPECIFIC TO UNDIAGNOSED DISEASE CASES:
Case workflow & pipeline management
Variant Annotation pipeline
Genomics literature text analytics
Crowdsourcing tool for gene discovery
We welcome research institutes, clinical organizations and concerned individuals
Shamil Sunyaev, PhDHarvard Medical School
Joel Krier, MDBrigham and Women's Hospital
Dana Vuzman, PhDOne Brave Idea
Michael (Misha) BouzinierBrigham Health Genomic Medicine
Dmitry (Dima) EtinBrigham Health Genomic Medicine
We are welcoming new members of our association and platform.
Please reach out to us if you are interested in joining our association or would like to know more about our open source tools, implementation support, its roadmap etc.
We are looking forward to hearing any comments and cooperation ideas.
Get in touch
Brigham and Women's Hospital
41 Avenue Louis Pasteur, Suite 305
Boston, MA 02115
+1 (617) 264 8705