AFTD Medical Advisory Council member Rosa Rademakers, PhD, has been named the 2022 recipient of the Generet Prize for Rare Diseases, making her the first woman — and the youngest recipient — to receive the prize for research focused on rare diseases.

Dr. Rademakers, a neurogenetics professor at the University of Antwerp, was awarded one million euros (about $1.15 million) from the King Baudouin Foundation in Belgium, which manages the Generet Prize fund. She aims to use the funding to study FTD-FUS, a less common form of FTD. Much of current FTD research largely focuses on tau proteins and TDP-43 protein accumulation. Dr. Rademakers intends to deepen researchers’ understanding of the FTD subtype that involves an accumulation of the FUS protein.

“We first described this third subgroup in 2009. They account for fewer than 10 percent of all patients with [FTD],” Dr. Rademakers said in a press release. “We actually still know very little about this disease. We can only make a final diagnosis on the basis of an autopsy, so when the patients have passed away. That means there are not many patients available for research.”

Dr. Rademakers was an early recipient of an AFTD Pilot Grant; in 2008 she was awarded a research grant to study MicroRNA dysregulation in FTD. She has since continued her exploration into FTD-FUS research. As early as 2010, Dr. Rademakers organized an international consortium of neurologists and pathologists from around the world to study FTD-FUS.

“It has taken us more than ten years to gather material from a large enough group of patients, but now we can start our research. We are also joining forces with international partners with different technological expertise,” she said.

Dr. Rademakers told AFTD that she and her team have collected nearly 60 brains from persons who had FTD-FUS, saying that she believes “we can make a difference now.”

“Even though it is not inherited in families, there is likely to be an important genetic contributing factor and we hope to find this by comparing this unique cohort,” said Dr. Rademakers.

The researcher spent 14 years working at the Mayo Clinic where she was appointed the youngest Full Professor in the Clinic’s history. In 2019, she returned to Belgium to helm the VIB Center for Molecular Neurology at the University of Antwerp as its scientific director.

Dr. Rademakers said in the King Baudouin Foundation press release that “unravelling the molecular background to the various forms of [FTD] not only provides insights into the underlying disease mechanisms. It is also giving us tools that we can use to improve diagnosis and follow-up of patients, with ultimately even the possibility of a treatment.”