Exciting progress from CMTA’s Strategy To Accelerate Research (STAR) program is once again highlighted with a recent publication celebrating a decade of CMT genomics discovery made possible by the GENESIS platform. This critically important CMTA-funded work, published in Experimental Neurology, highlights the leading role of GENESIS in accelerating CMT gene discovery.
Launched in 2012 by CMTA-STAR Advisory Board Member Stephan Züchner, MD, PhD, the GENESIS genomic research platform and database has grown into one of the most impactful genomic data platforms for CMT genetic discovery. The unrivaled database boats over 20,000 datasets from rare disease patients worldwide, including over 2,500 from CMT community members. Through its user-friendly interface, GENESIS empowers clinical and basic researchers, fostering collaborative efforts that have led to the discovery of over 25 new CMT genes, including the monumental CMT-SORD discovery.
Since its inception, CMTA, through the CMTA-STAR program, has been a committed partner and ongoing sponsor of GENESIS, recognizing its immense potential in unlocking genetic answers for the CMT community. This collaborative model has supported scientific progress and changed countless CMT patients’ lives by shortening diagnostic odysseys and enabling the development of targeted treatments.
In a statement celebrating this milestone, CMTA’s Chief Research Officer, Katherine Forsey, PhD, emphasized the global impact of this collaboration: “The GENESIS platform represents what can be achieved through cutting-edge technology and a collaborative research model. Through CMTA-STAR’s ongoing support of GENESIS, we’ve transformed genetic data into life-changing discoveries. Every discovery opens the door to potential new treatments. This powerful partnership provides hope for those with variants of unknown or uncertain significance (VUS), drives the future of CMT research, and improves outcomes for patients the world over.”
Dr. Züchner confirmed the ability of GENESIS to unite researchers worldwide: “The GENESIS platform has transformed how we approach genomic discovery by facilitating real-time collaboration among scientists worldwide. By breaking down barriers to data sharing, GENESIS accelerates the pace of genetic discoveries and enables breakthroughs that wouldn’t have been possible in isolation. Thanks to the ongoing support of CMTA-STAR, we’ve connected researchers from all corners of the world, working toward a common goal—improving the lives of those affected by CMT and other rare genetic conditions.”
As CMTA continues to support pioneering platforms like GENESIS, we provide hope for over 40% of our CMT community whose genetic subtype is still unknown. By accelerating gene discoveries and fostering global collaboration, CMTA-STAR remains at the forefront of unlocking the mysteries of CMT genetics, bringing answers to patients worldwide.
From the first gene to the last, CMTA is committed to supporting genetic discovery so everyone with CMT can know their subtype, paving the way for treatments and, ultimately, a cure.
Published on: November 25, 2024