Cystinosis Awareness Day is held annually on May 7th to highlight the rare genetic disease of cystinosis. This day was chosen in honor of the most common cystinosis mutation: the 57-kb deletion in the CTNS gene.

As part of ORGESTRA outreach values, Roger Mora de la Serna (DC9), together with Irati Vilariño de Uriarte (a researcher living with cystinosis), joined Radio Alma to discuss cystinosis research. The interview was broadcast on 101.9 FM, Brussels, and brings together scientific insight and personal experience, highlighting the impact of ongoing research.

It can be listened to here (in Spanish):
https://radioalma.eu/bruselas/2026/03/30/la-investigacion-y-convivencia-con-las-enfermedades-raras-con-irati-vilarino-y-roger-mora/

In addition, they also wrote a non-scientific report on the results of Roger Mora de la Serna’s research, which also includes the experiences of four people with cystinosis. The report was published on different platforms:

Cystinosis Ireland (English): https://lnkd.in/gEJQQt5d

Leuven Institute for Rare Diseases (English and Dutch): https://www.kuleuven.be/ird/insight-into-rare/blogs/a-first-step-towards-understanding-muscle-weakness-in-cystinosis

Spanish Cystinosis Association (Spanish): https://www.grupocistinosis.org/investigacion-primer-modelo-miopatia-cistinosis/

Rare diseases like cystinosis often remain under-recognized and under-studied. Awareness days play a crucial role in amplifying the voices of people living with the disease, encouraging research and funding and building connections between scientists, clinicians, and families. This Cystinosis Awareness Day, we celebrate the connection between science and lived experience and reaffirm our commitment to advancing research and visibility for rare diseases.

During a recent visit to VIVES University of Applied Sciences in Kortrijk, Belgium, kindly hosted by Tim Bekaert, two of our doctoral candidates (DCs) had the opportunity to present their research to second-year Bachelor students in biotechnology.

Mark (DC7) introduced students to his work on the design and testing of antisense oligonucleotide (ASOs) and small molecule therapeutics for cystic fibrosis. His presentation highlighted how targeted molecular approaches can be used to address defects in the CFTR gene, offering new avenues for precision treatment strategies.

Ananya (DC8) followed with an overview of her research on the use of mRNA-based therapeutics for cytinosis. She also discussed the importance of Good Laboratory Practice (GLP), effective data management strategies, and maintaining high standards of reproducibility and integrity in scientific work.

Beyond their individual research topics, both DCs provided valuable insight into the practical aspects of working in a research environment. They also shared their personal experiences as early-stage researchers, offering students a realistic perspective on pursuing a career in biomedical science.

We thank Tim Bekaert and the students at VIVES for the warm welcome and thoughtful discussions.

This week, three of our DCs – Roger Mora de la Serna, Ananya Singh, and Mark Leahy – share their experience of attending the ESGCT Spring School in Coimbra, Portugal.

The ESGCT (European Society of Gene and Cell Therapy) Spring School is an intensive course designed for early-career researchers in gene and cell therapy. It offers supplementary training on key scientific and translational areas relevant to the field.

During the programme, we took part in workshops covering important aspects of gene and cell therapy research, heard from experts about current challenges and therapeutic approaches, and learned from leading scientists about emerging technologies and future directions in the field. Beyond the formal sessions, the school also offered valuable opportunities to connect with other participants, exchange ideas, and build networks with fellow early-career researchers and senior scientists.

All in all, it was an inspiring and educational experience – a few days full of learning, discussion, and connection, and an excellent opportunity for professional and scientific development in gene and cell therapy.

One of our DCs, Ananya Singh, was recently invited for a short interview by a KU Leuven Master’s student Sabrina Fiore as part of her Master’s thesis research, “Navigating Dual Worlds: Identity Formation and Integration Process among Indians in Leuven between Flemish Context and Indian Heritage.” The interview focused on the experiences of first-generation Indian migrants in Leuven, particularly within academic and professional environments.

During the conversation, Ananya shared her personal journey of adapting to life in Leuven while maintaining a strong connection to her Indian heritage. They discussed topics such as cultural adjustment, identity, challenges faced in professional spaces, and the balance between integration into the Flemish context and preserving cultural roots. It was a meaningful exchange that highlighted the diverse experiences of the Indian community in Europe and reflected the broader journey of many non-European MSCA fellows building their careers while navigating life in an international environment.

From 2–6 February 2026, ORGESTRA fellows, partners and associate partners gathered at the Faculty of Sciences, University of Lisbon for School 2: Filling the Drug Development Pipeline.

The programme combined molecular disease mechanisms, high-throughput screening, RNA therapies, drug delivery, and viral vector design, alongside wet lab and computational training.

The scientific programme featured contributions from Margarida Amaral, Luka Clarke, André Maia, Hugo Botelho, Gimano Amatngalim, Roos Masereeuw, Catherine Bell, Filipa Ferreira, Mykaella Mestre, António Pombinho, Rik Gijsbers, Jenny van Asbeck-van der Wijst, Alessandra Bragonzi, and Tracey MacCauley. Sessions spanned cystic fibrosis molecular mechanisms and premature termination codon biology, high-content screening and statistical analysis of image-based drug discovery data, drug safety and delivery strategies, RNA therapeutics, viral vector design, and patient–researcher partnerships in rare diseases.

A central component of the school was hands-on high-throughput screening training. Fellows participated in wet lab sessions focused on sample handling and automated image acquisition, followed by IT labs using CellProfiler for segmentation and quantitative analysis of image-based drug screening data, led by Hugo Botelho.

The school also hosted work package meetings and the ORGESTRA Mid-Term Review, providing fellows the opportunity to present their research progress and receive structured feedback from partners and the REA Project Officer.

The week concluded with presentation awards recognising scientific communication and creativity:

🏆 Best Poster Award – Mark Leahy
🎥 Best Video Award – Aurora Licaj

ORGESTRA School 2 strengthened technical expertise, reinforced cross-institutional collaboration, and advanced our shared goal of accelerating therapies for rare diseases.

The project mid-term review meeting took place in Lisbon, Portugal on 6th February 2026, hosted by the Faculty of Scinces, University of Lisbon.

The meeting was well attended by network members and included presentations and posters from our DCs.

Congratulations to Lena Heer – DC10,  for winning a poster award at the Utrecht Institute for Pharmaceutical Sciences biannual meeting January 2026.

On Sunday, 23rd November, two of our DCs welcomed many curious minds to the Open Science Day at KU Leuven as part of the Leuven Institute for Rare Diseases. From poster presentations, deep-dive explanations and lab tours, both DCs brought their research on cystinosis closer to the public. Children and grandparents had the opportunity to get a behind-the-scenes look at cutting-edge research on rare diseases and novel gene-based therapies.

Ananya Singh (DC8) and Roger Mora (DC9) explain more:

“We believe that accessible research strengthens the link between our work and our social purpose. It was exciting to witness their enthusiasm and curiosity about our research. We hope this event inspired the next generation and strengthened the general public’s confidence in science. Thank you to everyone who joined the event, engaged in thoughtful conversations, and for making science come alive”.