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Saphetor Partners with Roche Turkey to Advance New Treatments for SMA

By Andy Cosgrove on October, 28 2020

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Andy Cosgrove

Chief Commercial Officer


Lausanne, Switzerland October 28, 2020 -- Saphetor, a global precision medicine company and the creator of VarSome, the emerging global standard platform for human genome data, announced today a partnership with Roche Turkey. The collaboration will be centered around supporting Roche’s drug discovery initiatives into Spinal Muscular Atrophy (SMA).

The open genomics community brings together a vast global network of clinical and research genetic laboratories. Saphetor will facilitate connecting labs who wish to partner with Roche on SMA research. The goal will be to create and foster relationships as well as to accelerate scientific collaboration with SMA community.

Exploring new and more efficient way for scientific collaboration has long been an obstacle in the pharmaceutical industry. Saphetor is helping to avoid the loss of critical time through identifying the most relevant patients and facilitating the communication between involved parties such as labs, pharma and patients.

Anne Nijs, Transformation Leader, Rare Conditions for Pharma International at Roche said: “We look forward to leveraging Saphetor’s innovative approach to bring together the global genomics community in order to connect with the right participants in the healthcare ecosystem of rare disorders”.

Dr. Turgut Gökalp, SMA Rare Conditions Partner for Turkey, Azerbaijan and Georgia added: “We are always looking for new ways to identify new stakeholders and therefore new collaboration opportunities. I believe our partnership with Saphetor will give us a better understanding of SMA testing landscape in Turkey.”

Andreas Massouras, CEO of Saphetor commented: “We are very excited to partner with Roche and contribute to their important effort in developing treatments for this debilitating and often lethal disease. is proving an extremely valuable resource for willing clinical and research labs as well as pharmaceutical companies to collaborate on a worldwide level”.

About SMA

Spinal muscular atrophy (SMA) is a severe, inherited, progressive neuromuscular disease that causes devastating muscle atrophy and disease-related complications. It is the most common genetic cause of infant mortality and one of the most common rare diseases, affecting approximately one in 11,000 babies. SMA leads to the progressive loss of nerve cells in the spinal cord that control muscle movement. Depending on the type of SMA, an individual’s physical strength and their ability to walk, eat or breathe can be significantly diminished or lost.

SMA is caused by a mutation in the survival motor neuron 1 (SMN1) gene that results in a deficiency of SMN protein. SMN protein is found throughout the body and increasing evidence suggests SMA is a multi-system disorder and the loss of SMN protein may affect many tissues and cells, which can stop the body from functioning.

About Roche

Roche is a global pioneer in pharmaceuticals and diagnostics focused on advancing science to improve people’s lives. The combined strengths of pharmaceuticals and diagnostics under one roof have made Roche the leader in personalised healthcare – a strategy that aims to fit the right treatment to each patient in the best way possible.

Roche is the world’s largest biotech company, with truly differentiated medicines in oncology, immunology, infectious diseases, ophthalmology and diseases of the central nervous system. Roche is also the world leader in in vitro diagnostics and tissue-based cancer diagnostics, and a frontrunner in diabetes management.

Neuroscience is a major focus of research and development at Roche. The company’s goal is to develop treatment options based on the biology of the nervous system to help improve the lives of people with chronic and potentially devastating diseases.

Roche has more than a dozen investigational medicines in clinical development for diseases that include multiple sclerosis, spinal muscular atrophy, neuromyelitis optica spectrum disorder, Alzheimer’s disease, Huntington’s disease, Parkinson’s disease, Duchenne muscular dystrophy and autism.

About VarSome and Saphetor SA

VarSome is the emerging global standard platform for human genome data. With more than 300,000 professional users and 80+ standardized and continuously updated major datasets freely searchable online, is the world's largest community and knowledge base for human genome variant data. VarSome's premium, clinical and API tools further enable anyone and any organization, from individual healthcare professionals to hospitals and pharmaceutical companies, to harness and apply the power of this community and data to improve health and lives worldwide. VarSome is created by Saphetor, a Switzerland-based precision medicine company using bioinformatics to apply human genome data to benefit people.

VarSome ClinicalCE-IVD-certified and HIPAA-compliant, 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.

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