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Saphetor Partners with PTC Therapeutics to advance awareness of clinical programs in rare diseases

By Carl Smith on July, 12 2022

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Lausanne, Switzerland, July 12, 2022 - Saphetor, a global precision medicine company and the creator of VarSome, The Human Genomics Community and variant interpretation platform, announced today a partnership with PTC Therapeutics International Limited. The open genomics community,, brings together a vast global network of clinical and research genetic laboratories leveraging its industry-leading genomic annotation tools and data. The collaboration will be centered around supporting awareness of clinical programs in rare diseases.

With this partnership, Saphetor will facilitate connecting the rare disease community to accelerate research collaboration, by identifying the most relevant stakeholders and facilitating the communication between involved parties such as labs, pharma and healthcare professionals. This collaboration will help improve the speed at which the rare disease community can be made aware of rare diseases and associated clinical programs, relevant to their genes / variants of interest thanks to VarSome’s global coverage of users.

Ludovic Baillon, Genetic and Diagnostic Lead, at PTC Therapeutics said: “We look forward to leveraging Saphetor’s innovative approach to bring together the global genomics community to build awareness in our rare disease programs”.

Andy Cosgrove, CCO of Saphetor commented: “We are very excited to partner with PTC Therapeutics and contribute to their important effort in developing treatments in rare diseases. is proving an extremely valuable resource for willing clinical and research labs as well as pharmaceutical companies to collaborate on a worldwide level”.


About PTC

PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC's ability to innovate to identify new therapies and to globally commercialize products is the foundation that drives investment in a robust and diversified pipeline of transformative medicines. PTC's mission is to provide access to best-in-class treatments for patients who have little to no treatment options. PTC's strategy is to leverage its strong scientific and clinical expertise and global commercial infrastructure to bring therapies to patients. PTC believes this allows it to maximize value for all its stakeholders. To learn more about PTC, please visit us at and follow us on Instagram, Facebook, Twitter, and LinkedIn.


About Saphetor SA

Saphetor SA, is a global precision-medicine company dedicated to large-scale identification and interpretation of human genetic variants by leveraging proprietary algorithms and expert domain knowledge.

Saphetor is the creator of VarSome, a suite of intuitive and data-driven bioinformatics solutions both for clinicians and researchers. professional community and search engine is freely accessible, featuring a widely-recognized community-driven knowledge base that enables flexible queries across more than 130 genetic and genomic data resources.

VarSome Premium and VarSome Clinical are professional editions of VarSome with powerful functionality and further sophisticated data-mining and analysis tools. VarSome Clinical is a CE-IVD-certified and HIPAA-compliant platform allowing fast and accurate variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels, which helps clinicians reach faster and more accurate diagnoses and treatment decisions for genetic conditions.


For more information contact:

Carl Smith,

Marketing Manager





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