Tagged with Rare Disease

USA After her son was diagnosed with SYNGAP1 – an extremely rare gene mutation – Monica founded Bridge the Gap – SYNGAP Education and Research Foundation to support families of those suffering from the illness and to accelerate the path to better therapies. Here she discusses the importance of community for tackling rare…

France Genethon, a laboratory created by the patient organization AFM-Telethon, is one of the world’s leaders in the development of biotherapies for rare diseases. In this interview Genethon’s CEO Frédéric Revah explains its role in the discovery of innovative therapies since the 1990s and the recent launch of YposKesi, its innovative…

Turkey Two months into the role, Umut Meriç, general manager for Chiesi Turkey, discusses the affiliate’s rapid progression and his plans to ensure Turkish patients benefit from the global company’s latest therapies in the respiratory and rare diseases areas. Meriç underlines the importance of motivating and developing a productive, dynamic and…

UK Offering genomic sequencing and analysis, Congenica operates in the exciting world of genomic diagnosis, with a particular focus on rare diseases. Its CEO David Atkins describes the potential of Congenica’s platform and talks commercialisation. Can you please start by introducing Congenica to our international readers? “As well as disease diagnosis,…

UK Sean Richardson discusses Alexion’s focus on rare and ultra-rare diseases, the level of support for these therapies from the UK government, awareness raising, diagnostics, and his future priorities.     Let’s please start this interview by introducing the UK affiliate of Alexion to our audience. How would you describe the…

Hong Kong K P Tsang, president of the Hong Kong Alliance for Rare Diseases (HKARD), shares the challenges faced by patients with rare diseases and their caregivers in Hong Kong, the areas of improvement when it comes to rare disease policy, the advocacy work that HKARD is undertaking, and his insights on…

UK Three years into his role as general manager of Sobi’s UK and Republic of Ireland operations, Neil Dugdale introduces the scope of operations of the Swedish rare disease player to our audience, highlighting the company’s unique positioning in working closely with patient groups to drive forward better understanding of unmet…

Spain Alba Ancochea of FEDER, the association that groups together Spain’s 337 rare disease patient organizations, explains how it interacts with both government and industry to the benefit of rare disease patients, the evolving situation for these patients in Spain, and her strategy for the future. Could you please start by…

Portugal Alnylam, pioneers in the RNA interference field, seek to bring their revolutionary medicine across Europe, and in particular Portugal before 2020. In this interview the new General Manager for Spain and Portugal, Alicia Folgueira Lopez, a rare diseases authority, discusses how to build an affiliate from scratch, the synergies across…

Spain Jose Manuel Rigueiro, general manager of the Spanish affiliate of Actelion, discusses the lack of trust between health authorities and the industry and the challenges of launching new orphan drugs in such a fragmented healthcare system. He highlights the successful launch of Uptravi® and his commitment to avoid business disruption…

Portugal Carla Benedito, general manager of Shire Portugal, provides useful insight into the rare diseases landscape in Portugal. Carla discusses market access models for innovative and rare treatments, encouraging dialogue between industry and government, and the touching nature of working for a pharmaceutical company that knows all of its patients by…

UK With an appetite to take the next step in its rapid development, EUSA Pharma has already established itself as a leading rare-disease and oncology biotech company in just a short period of time. Currently active in both the UK and Europe, EUSA is set to further expand internationally, notably in…