Rare disease research boost for lysosomal scientists backed by Chiesi

This article is part of our special report New research grants advancing innovation in lysosomal disease treatment.

Chiesi Global Rare Diseases has recognised three leading scientists through its ‘Find For Rare’ research grant programme, at a ceremony in Parma. They were honoured for their work supporting early-stage innovation in lysosomal diseases, a field where scientific promise often outpaces available funding.

The independently assessed, expert-led research grant initiative aims to improve patient care and management by recognising innovative research in three lysosomal diseases: Fabry disease, alpha-mannosidosis, and cystinosis.

The 2025 awardees are Professor Mitra Tavakoli from the University of Exeter (UK), honoured for developing non-invasive biomarkers to better understand pain in Fabry disease; Dr Margarita Dinamarca from the University of Basel (Switzerland), recognised for her work on targeting the blood–brain barrier in alpha-mannosidosis; and Dr Francesco Bellomo from Ospedale Pediatrico Bambino Gesù – IRCCS (Italy), awarded for investigating the therapeutic potential of a ketogenic diet in cystinosis.

Their projects promise earlier diagnosis and new therapeutic avenues for these ultra-rare, multi-systemic disorders.

“Chiesi is working on rare diseases. Around 350 million persons are living with a rare disease worldwide. This is as big as the United States and 95% of them do not have an approved therapy,” said Alessandra Vignoli, Vice-President Rare Diseases at Chiesi. “And this is what is moving us with urgency to find new treatments for these patients.”

Lysosomal diseases: high burden, low visibility

Lysosomal diseases are inherited metabolic disorders caused by missing or faulty enzymes. Harmful substances build up inside cells, progressively damaging organs such as the brain, kidneys, heart and bones. While clinical knowledge has improved, effective therapies remain limited and diagnosis is often delayed.

“We understand that only having a therapeutic option sometimes is not enough. So that’s why we want to collaborate with this highly scientific award, to also bring to patients new solutions and an advancement in their disease journey,” said Alessandra Vignoli.

This broader ambition to go beyond conventional treatment underlines why research funding remains so crucial, particularly in the early stages of scientific discovery.

“This rare disease programme really matters. Because children with rare diseases or adults with rare diseases are a little bit neglected and there is a lot of room for improvement,” said Prof. Dieter Hafner, Steering Committee member at the event. The funding shortfall is precisely what Chiesi aims to tackle.

Pan-European call draws 82 proposals

The second edition of Chiesi’s Find For Rare research-grant scheme attracted 82 applications from 23 countries, reflecting growing interest in early-stage innovation for underserved lysosomal diseases. Applications were accepted from all global regions except the Americas, with proposals required to be submitted in English.

Each successful project receives up to €50,000 in funding, with selection criteria based on scientific merit, feasibility, innovation, and patient impact.

This year’s Find For Rare research grants were awarded to three scientists whose projects aim to address critical gaps in understanding and managing lysosomal diseases.

“The quality of the work that was presented really sets a high bar for the entire rare disease research ecosystem,” said Prof. Joao Goncalves, Steering Committee Member.

Tackling Fabry pain through precise phenotyping

Professor Mitra Tavakoli, from the University of Exeter (UK), received the award for her work to better understand and measure the pain experienced by people with Fabry disease. Her project explores non-invasive ways to detect nerve damage and trace how pain develops, with the goal of improving diagnosis and care.

Steering Committee member Professor João Gonçalves described the project as “extremely innovative,” highlighting its unique approach to addressing a clinically relevant issue in Fabry disease.  He emphasised that the project’s focus on exploring a range of novel biomarkers to better understand pain pathways and their pathophysiology targets “a really important issue at the clinical level.”

Overcoming barriers in alpha-mannosidosis

Dr Margarita Dinamarca from the University of Basel was awarded for her research into how alpha-mannosidosis affects the brain. Her project focuses on finding ways to deliver treatments more effectively, by helping medicines cross the protective barrier around the brain.

The project impressed the jury for its real-world relevance.

“We have neurodegeneration in many, many lysosomal diseases. And also in alpha-mannosidosis. And it is so important to really address this topic. To address the brain and to find ways to treat our patients,” said Professor Lampe.

Decoding dietary benefits in cystinosis

At Ospedale Pediatrico Bambino Gesù in Rome, Dr Francesco Bellomo is studying whether a ketogenic diet, a high-fat, low-carb diet, could help treat nephropathic cystinosis, a rare genetic kidney disease.

Early research in mice showed that the diet could ease symptoms like kidney inflammation and tissue damage. His new project aims to understand how the diet works, so that these findings can eventually benefit patients.

The selection committee highlighted the project’s potential to translate lab findings into real-world therapies.

“This was very competitive. Thirteen applications, which were all very good. But his application stood out. We were really impressed by the study design, comprehensive proposal, and I think a great potential for success,” said Professor Dieter Hafner.

With Chiesi marking its 90-year anniversary, the grants are part of a longer-term commitment to translate early-stage science into tangible benefits for underserved patients with Fabry disease, alpha-mannosidosis and cystinosis.

[Edited By Brian Maguire | Euractiv's Advocacy Lab ]