Scientists in a race against time to cure rare diseases

In the quiet outskirts of Bucharest, Romania, resides Victor, an eight-year-old boy with an extraordinary story. Born with developmental delays, it quickly became apparent to Victor’s parents that their son’s growth was not progressing as expected. Their journey, spanning three years and six countries, eventually led them to a diagnosis – a rare condition known as Coffin-Lowry Syndrome.

The unseen challenge

“It was obvious that something was not developing properly,” recalls Iuliana Dumitriu, Victor’s mother, who also founded the non-profit organization, Asociatia Sindromul Coffin-Lowry. The syndrome results from a minute mutation in one of Victor’s genes, causing severe psychomotor delays. Although Victor is cognitively eight years old, he is mentally and physically comparable to a 2-3-year-old child, a delay projected to persist throughout his life.

Victor’s routine includes swimming and speech & kinesiotherapy, enhancing his quality of life as there is currently no established treatment for his condition. “He would need maybe a medicine to better make his neurons communicate between each other, and also with the nerves. But that has not been researched,” states Iuliana.

Victor is just one of many children suffering from a rare disease. Among the more than 6,000 rare diseases identified, the European Union has approved treatments for only 300, a mere 5 per cent. These treatments are often costly and scarcely available.

The dire need for solutions

The hospital where Victor first received care manages nearly a thousand rare disease sufferers annually. Diagnosis and treatment for these diseases are likened to a complex puzzle, often involving numerous specialists, common blood tests, genetic tests, and more. This time-consuming process demands swift answers, leaving many patients and families in desperate need of relief.

Recognizing the urgent need for innovative, affordable medicines, the European Commission is working to incentivize developers by offering strengthened scientific and regulatory support and extended periods of market exclusivity.

Advocacy and the hope for a cure

Non-profit alliances advocating for the estimated 30 million Europeans affected by rare diseases call for immediate action. Yann Le Cam, CEO of EURORDIS – Rare Diseases Europe, highlights the importance of science in providing treatments that alleviate symptoms, delay onset, slow progression, and, in rare cases, provide a cure.

“We’re at a great time for that because we’re seeing the number of new treatments coming on stream, including gene and cell therapy, but also pharmacology, sometimes reusing old molecules,” says Le Cam, excitedly discussing the surge in scientific advancements.

Ioana Streata, a Medical Geneticist from the University of Medicine and Pharmacy of Craiova, underlines the crucial role of the European Union in harnessing these opportunities. By collating data across different patients in Europe, they can find potential therapeutic targets and develop proper treatments.

“Over the past few years, we have seen cures involving gene editing and neurological treatments to improve neuron connections,” shares Iuliana, brimming with optimism. She believes that increased awareness about rare diseases can secure more research funds, bringing us closer to improving the lives of patients like Victor.