Tagged with rare diseases

USA Paul Kim, a leading FDA attorney and policy expert formerly at both the FDA and the US Congress, discusses the current shifts within the American life sciences and regulatory landscape. Kim examines the prevailing sentiment of the industry amidst a period of significant structural upheaval and regulatory whiplash. He offers…

USA Craig Martin, CEO of the Orphan Therapeutics Accelerator (OTXL), discusses the urgent need for a new business model to rescue abandoned clinical-stage programs in the rare disease sector. He details OTXL’s innovative non-profit model, which leverages a collaborative network of partners and unique tax-exempt incentives to liberate stranded assets from…

Taiwan Sabrina Zimmerman, General Manager for Taiwan, Hong Kong, and Macau and APAC (excluding Japan) Portfolio Head at Biogen, shares her perspective on the company’s expanding presence in Asia and its evolving focus beyond neuroscience. She discusses the region’s innovation potential, the strategic priorities driving rare disease and other exciting therapeutic…

UAE As Abu Dhabi translates strategy into execution, the focus turns from platform design to operational delivery. Albarah Elkhani, COO of Integrated Health Solutions at M42, details how large-scale genomics, clinical pathways and regulatory alignment are embedded into day-to-day healthcare practice. From premarital and newborn screening to rare disease management and…

USA Nasha Fitter, a tech entrepreneur and CEO of the FOXG1 Research Foundation, discusses the radical shift in drug development led by a new generation of sophisticated parent-entrepreneurs. Following her daughter’s diagnosis with the ultra-rare neurodevelopmental disorder FOXG1 syndrome, Fitter co-founded the FOXG1 Research Foundation and Citizen Health. Her mission: to…

USA Tanya Carro details Duchesnay Pharmaceutical Group’s organic expansion from its women’s health core into rare diseases and generics. Operating across three geographic pillars, the privately held firm leverages Canadian pricing discipline and US entrepreneurial agility. Carro emphasizes navigating complex reimbursement landscapes through holistic patient support and securing global supply chains…

USA Katherine Stueland, CEO of GeneDx, describes transforming the 26-year-old NIH spinout into a scalable, patient-focused business. Leveraging the Infinity database, strategic biopharma partnerships, AI-driven interpretation, and cost-efficient exome and genome testing, GeneDx accelerates rare disease diagnosis. The company is aiming to assist in the expansion of newborn screening programs as…

MEA Dr Said Ismail, geneticist and professor of genomics at Hamad Bin Khalifa University, reflects on his role as the founding director and one of the architects of the Qatar Genome Programme (QGP), one of the Middle East’s most established and globally recognised population‑level genomics initiatives. He describes the pivotal decisions…

USA Matt Heck, founder and CEO of Sentynl Therapeutics, outlines the company’s acquisition-led rare disease strategy following its integration into Zydus Group in 2017. He discusses building a focused portfolio of life-extending paediatric therapies, leveraging orphan drug incentives, prioritising early diagnosis, expanding internationally, and partnering closely with patient foundations to maximise…

France France is considered among the leading rare disease markets worldwide, both scientifically and organisationally. The country has cultivated a fully-fledged supporting ecosystem for rare conditions that is today regarded as a benchmark internationally, and which few other countries have proven able to match.   “Back in the mid-2000s, under the…

France France’s patient advocacy network is one of Europe’s most well-developed and formalised. Patient advocacy groups – including the three featured below – fill in research, care, and support gaps left by private industry and the state while elevating the concerns of the most important people within healthcare: patients and their…

UAE Global advances in rare blood disorders increasingly hinge on where evidence is generated, how patients are followed, and whether innovation reaches beyond a limited few. Khaled Musallam describes how clinical reality at Burjeel informs international research, trial design, and guideline development, while pressing for models that balance scientific ambition with…