sanofi Home > OurScience > R&DFocusAreas > Rare Diseases R&D Rare Diseases R&D We're deeply committed to discovering, developing, and delivering new options for people living with rare diseases. Artist's interpretation of a therapeutic merging with a lysosome “We're leading the way to discovery ina very connectedecosystem of academic, foundation, and industry research that’s dedicated to bringing new Pablo Sardi options for We're leading the way to discovery in a very people with connected ecosystem of academic, foundation, and : industry research that’s dedicated to bringing new rare diseases.” options for people with rare diseases. Layla Bral, Associate Scientist LMR Ghent ~ Nanobody Research Platform Discovery, Belgium Our Rare Disease Pipeline Around 400 million people globally are affected by 7000 diseases so rare they are difficult to diagnose and treat. We've been uncompromising in our commitment to improving their lives. By developing the first-evermedicines for five rare diseases, we've learned what it takes to turn the impossible into possible. We're more motivated than ever to deliver treatments that set the standard for care in rare diseases. Our Pipeline > Follow the Science One Pathway, Many Rare Diseases Imagine all the metabolic pathways that support life as one vast roadmapImagine all the metabolic pathways that support life as ‘one vast roadmap Seemore > Accelerating Genomic Medicine New gene editing, synthetic biology, and nanobody technologies are reinventing the landscape of medicine Read the article >How Science Gets Done New technologies are changing what's possible in drug design and development See more Pioneering R&D We delivered the first successful enzyme replacement therapy for Gaucher disease, a lysosomal storage disorder (LSD), in 1991.2 Treatments for Fabry, Pompe, Mucopolysaccharidosis | and Acid Sphingomyelinase Deficiency followed. Now, we're addressing multiple LSDs, exploring a biological pathway shared by many of these disorders.Advancing science with the rare disease community LSDs Building on our strong foundation in rare, genetic conditions caused by enzyme deficiencies,3 we're exploring new treatments for people with GM2 gangliosidoses and other disorders. New approaches Bolstered by strategic acquisitions and a genomic medicine unit, we're accelerating drug discovery to improve the lives of families affected by rare diseases. Small population, big impact We steward multinational registries that unite patient communities and help doctors share rare clinical and real-world information.‘ Our scientists also use them to research new therapies.More about rare diseases h FA Rare Disease Advocacy Rare Disease Registries Seemore — Read the article > New Frontiers in Genomic Medicine Readthearticle > References1. Haendel M, Vasilevsky N, Unni D, et al. (2020) How many rare diseases are there? Nat Rev Drug Discov 19:77-78. doi: 10.1038/d41573-019-00180-y. 2. Hindo C, Pastores GM, Brady RO (2018) Rare Disease Database: Gaucher Disease. National Organization for Rare Disorders (NORD) website. Accessed 27 October 2022. See also Sun A, Chang J, Lam C, Berry GT (2021) Lysosomal Storage Disorders. In: Pyeritz RE, et al,, Eds. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics (Seventh Edition). Academic Press, 563-682 pp; DOI: 101016/B978-0-12-812535-9,00014-5, 3. Futerman AH, van Meer G (2004) The cell biology of lysosomal storage disorders. Nature Rev Mol Cell Biol 5:554-565; DOI: 10.1038/nrm1423 4. Kélker S, Gleich F, Miitze U, Opladen T (2022) Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience. Front Endocrinol 13:832063; DOI: 10,3389/fendo.2022.832063 MAT-GLB-2004284 v-2.0 7/2023 Page updated July 2023 Continue to R&D partnerships > Contact. Legal noticePrivacy & data protection Cookies Policy Code of Conduct Our publications Sitemap Directory Accessibility: partial compliance Sanofi Today © Sanofi 2004-2023 - All rights reserved