Progress in rare disease research depends not only on scientific discoveries, but also on bringing the right people together. In March 2026, the international Getting Closer to a Treatment for LAMA2-RD Conference did just that in Istanbul, bringing patients, families, clinicians, and researchers together to share knowledge, strengthen collaborations, and discuss the next steps towards better treatments for LAMA2-related muscular dystrophy (LAMA2-RD).

LAMA2-RD is a rare, inherited muscle disease, and for many families, meeting others who truly understand their experiences is unfortunately uncommon. Bringing patients, families, researchers, and clinicians together therefore offered more than an opportunity to exchange scientific knowledge. The conference created a space for connection, shared understanding, and a stronger sense of community.

Hosted at Nişantaşı University, the meeting marked the third international LAMA2 conference, following gatherings in Maastricht in 2019 and Barcelona in 2023. Across three days, the programme covered scientific research, patient advocacy, and the challenges involved in moving towards a therapy in the clinic. Members of the FIT project and students from the FHML Honours Programme contributed to the organisation and programme of the conference.

The event featured scientific talks spanning CRISPR-based gene correction to iPSC disease modelling, alongside key contributions from patient organisations. Gustavo Dziewczapolski (Cure CMD) and Bram Verbrugge (LAMA2-Europe) discussed the value of seed funding and harmonised natural history data in sustaining momentum, while Giorgia Crimi (Fondazione Telethon) presented the foundation's role in advancing therapy development and securing long-term treatment access. PD Dr. Jasmin Barman-Aksözen (University of Zurich, International Porphyria Patient Network) added her own perspective as a 'scientist-patient,' describing how patient advocacy contributed to the regulatory approval of a treatment for erythropoietic protoporphyria, another rare disease. Together, these contributions underscored the importance of including the patient voice throughout the research and development process.

Throughout the conference, new research plans were shaped and existing collaborations strengthened, with a shared ambition to better align efforts across the international LAMA2 field.

Ultimately, the Istanbul meeting highlighted the importance of connecting research, clinical practice, and the patient community. As the LAMA2 field moves towards clinical trials and new treatment options, the connections built during these three days provide a foundation for continued collaboration and progress.

Read more on the official website!