Journal article
The GENESIS database and tools: A decade of discovery in Mendelian genomics
Experimental neurology, Vol.382, 114978
12/2024
DOI: 10.1016/j.expneurol.2024.114978
Abstract
In the past decade, human genetics research saw an acceleration of disease gene discovery and further dissection of the genetic architectures of many disorders. Much of this progress was enabled via data aggregation projects, collaborative data sharing among researchers, and the adoption of sophisticated and standardized bioinformatics analyses pipelines. In 2012, we launched the GENESIS platform, formerly known as GEM.app, with the aims to 1) empower clinical and basic researchers without bioinformatics expertise to analyze and explore genome level data and 2) facilitate the detection of novel pathogenic variation and novel disease genes by leveraging data aggregation and genetic matchmaking. The GENESIS database has grown to over 20,000 datasets from rare disease patients, which were provided by multiple academic research consortia and many individual investigators. Some of the largest global collections of genome-level data are available for Charcot-Marie-Tooth disease, hereditary spastic paraplegia, and cerebellar ataxia. A number of rare disease consortia and networks are archiving their data in this database. Over the past decade, more than 1500 scientists have registered and used this resource and published over 200 papers on gene and variant identifications, which garnered >6000 citations. GENESIS has supported >100 gene discoveries and contributed to approximately half of all gene identifications in the fields of inherited peripheral neuropathies and spastic paraplegia in this time frame. Many diagnostic odysseys of rare disease patients have been resolved. The concept of genomes-to-therapy has borne out for a number of such discoveries that let to rapid clinical trials and expedited natural history studies. This marks GENESIS as one of the most impactful data aggregation initiatives in rare monogenic diseases.
•GENESIS enables researchers without bioinformatic expertise to analyze genomic data.•GENESIS is a genomic data aggregation and genetic matchmaking service.•GENESIS has supported over 100 gene discoveries across over 200 manuscripts.
Details
- Title: Subtitle
- The GENESIS database and tools: A decade of discovery in Mendelian genomics
- Creators
- Matt C. Danzi - University of MiamiEric Powell - Dr. John T. Macdonald FoundationAdriana P. Rebelo - University of MiamiMaike F. Dohrn - RWTH Aachen UniversityDanique Beijer - Dr. John T. Macdonald FoundationSarah Fazal - Dr. John T. Macdonald FoundationIsaac R.L. Xu - University of MiamiJessica Medina - University of MiamiSitong Chen - Dr. John T. Macdonald FoundationYeisha Arcia de Jesus - Dr. John T. Macdonald FoundationJacquelyn Schatzman - Dr. John T. Macdonald FoundationRay E. Hershberger - The Ohio State UniversityMario Saporta - Dr. John T. Macdonald FoundationJonathan BaetsMarni Falk - Children's Hospital of PhiladelphiaDavid N. Herrmann - University of Rochester Medical CenterSteven S. Scherer - University of PennsylvaniaMary M. Reilly - National Hospital for Neurology and NeurosurgeryAndrea Cortese - National Hospital for Neurology and NeurosurgeryWilson Marques - Universidade de São PauloMario R. Carnejo-Olivas - Instituto Nacional de Ciencias NeurológicasOranee Sanmaneechai - Siriraj HospitalMarina L. Kennerson - Anzac Research InstituteAlbena Jordanova - VIB-UAntwerp Center for Molecular NeurologyThiago Y.T. Silva - Universidade Federal de São PauloJose Luiz Pedroso - Universidade Federal de São PauloLuca Schierbaum - Boston Children's HospitalDarius Ebrahimi-Fakhari - Boston Children's HospitalStojan Peric - University of BelgradeYi-Chung Lee - National Yang Ming Chiao Tung UniversityMatthis Synofzik - German Center for Neurodegenerative DiseasesMustafa Tekin - University of MiamiGianina Ravenscroft - Harry Perkins Institute of Medical ResearchMike Shy - University of IowaNazli Basak - Koç UniversityRebecca Schule - Antwerp University HospitalStephan Zuchner - University of Miami
- Resource Type
- Journal article
- Publication Details
- Experimental neurology, Vol.382, 114978
- Publisher
- Elsevier Inc
- DOI
- 10.1016/j.expneurol.2024.114978
- ISSN
- 0014-4886
- eISSN
- 1090-2430
- Grant note
- EL2 fellowship from the Australian NHMRC: APP2007769 Senior Clinical Researcher mandate of the Research Fund-Flanders (FWO): 1805021 N Fund for Scientific Research (FWO-Flanders): G048220N, G0A2122N French Muscular Dystrophy Association (AFM-Telethon): 23708 Bulgarian National Plan for Recovery and Resilience: BG-RRP-2.004-0004-C01
This study and data analysis was supported by the CMT Association, Hereditary Neuropathy Foundation, and Muscular Dystrophy Association (to SZ) . GR is supported by an EL2 fellowship from the Australian NHMRC (APP2007769) . JB is supported by a Senior Clinical Researcher mandate of the Research Fund-Flanders (FWO) under grant agreement number 1805021 N. AJ is supported by the Fund for Scientific Research (FWO-Flanders) (#G048220N, #G0A2122N) , the Association Belge contre les Maladies Neuromusculaires' (ABMM-Telethon) , the French Muscular Dystrophy Association (AFM-Telethon, #23708.) , the Bulgarian National Science Fund and the Bulgarian National Plan for Recovery and Resilience (#BG-RRP-2.004-0004-C01) . Several authors of this publication are members of the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD) and of the European Reference Network for Rare Neurological Diseases (ERN-RND) . JB is a member of the mu NEURO Research Centre of Excellence of the University of Antwerp.
- Language
- English
- Electronic publication date
- 09/30/2024
- Date published
- 12/2024
- Academic Unit
- Molecular Physiology and Biophysics; Neurology; Iowa Neuroscience Institute
- Record Identifier
- 9984721135202771
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