At PTC, we are committed to a single purpose: Extending life’s moments for patients with rare diseases and their loved ones. Our mission is to provide access to best-in-class treatments for rare disease patients who have little to no treatment options. This mission underpins our focus on clinically differentiated medicines that provide benefits to patients with rare disorders. We recognize the importance of early diagnosis in rare diseases and we are looking forward to working alongside like-minded colleagues on the development of innovative solutions to accelerate diagnosis. As a science-driven, global biopharmaceutical company, we combine our strong clinical and scientific expertise with dedication to using groundbreaking science and new technologies to find innovative ways to treat these diseases. We operate offices and/or research labs in more than 20 countries and occupy a business footprint in more than 50 countries around the world. To learn more about PTC, please visit us at www.ptcbio.com and follow us on Facebook, on Twitter at @PTCBio, and on LinkedIn.
Role within Screen4Care
PTC is delighted to join the Screen 4 Care consortium and will contribute to all Screen 4 Care work packages. The bulk of our activity will be centred around WP3 and WP4. We will contribute together with patients, caregivers and healthcare professionals to the design of innovative gene-panels for treatable and actionable rare diseases. PTC will also contribute to the design and evaluation of algorithms for early EHR-based rare disease detection and help inform public health authorities on the impact of this approach.