About

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.

Members

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.”

NPJ Genomic Medicine 3 (2018): 21. PMC. Web. 13 Aug. 2018.

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.

Association

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

Open-source Platform

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:

We welcome research institutes, clinical organizations and concerned individuals

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Our Team

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