Rosa Rademakers, a scientist at VIB and the University of Antwerp, has received the prestigious Breakthrough Prize in Los Angeles for her research into the genetic causes of dementia.
Her team identified a unique genetic mutation as a key contributor to two conditions: frontotemporal dementia and ALS (amyotrophic lateral sclerosis), according to a statement from the Flemish Institute for Biotechnology (VIB).
In 2011, Rademakers led a team at the renowned Mayo Clinic in Florida, USA, where they discovered an unusual repetition of a short DNA sequence in a previously unknown gene, C9ORF72.
They found that healthy individuals in one family had a small number of these repetitions, whereas family members with frontotemporal dementia or ALS had thousands.
Although most cases of ALS and frontotemporal dementia are not inherited, this discovery accelerated research into biological mechanisms, biomarkers, and possible treatments.
Over the past 15 years, studies from labs around the world have confirmed that excessive repeats in the C9ORF72 gene trigger various disease processes.
Clinical trials are now underway to test multiple strategies aimed at countering these harmful effects.
Rademakers shared the $3 million (€2.55 million) prize with Bryan Traynor, a United States-based neurologist and ALS researcher, whose team independently identified the same genetic repetition on Chromosome 9 during the same period.
