Hackensack Neurology Chair's Work Fuels €1M Breakthrough in Rare Disease Research

For over 30 years, Dr. Florian Thomas, Chair and Professor, Department of Neurology at Hackensack Meridian Hackensack University Medical Center and Hackensack Meridian School of Medicine, has dedicated his career to one of medicine’s most frustrating challenges: Charcot-Marie-Tooth (CMT) hereditary neuropathy. His life's work, centered on providing compassionate care and spearheading research for this often debilitating nerve disorder, has been foundational in building a global network of discovery.

That lifelong commitment was recognized on the world stage this week as his close collaborator, Dr. Albena Jordanova, University of Antwerp, Belgium, was awarded the prestigious €1 million Generet Prize for Rare Diseases. In her announcement, Dr. Jordanova, a leading researcher in Belgium and Bulgaria, credited Dr. Thomas as being indispensable to the achievement.

"This award would not have been possible without our fruitful collaboration over the years of Dr. Florian Thomas," Dr. Jordanova stated, highlighting a partnership that has spanned nearly two decades and crossed continents.

Dr. Thomas’s instrumental role stems from his decades-long clinical leadership and the deep, trusting relationships he has built with patients. For over 2 decades, he and his international team have followed two large families with CMT with over 70 members, one in the US, the other in Bulgaria, with clinical & molecular genetics studies.Their efforts ultimately converged in a pivotal breakthrough, revealing that families shared a mutation in the same underlying gene, YARS1. Additionally, Dr. Thomas has led in the US the 1st two Phase 2 & Phase 3 clinical trials for other forms of CMT.

Charcot-Marie-Tooth disease, which affects an estimated one in 2,500 people, is a progressive hereditary disorder that damages the nerves outside of the brain and spinal cord. Patients suffer from progressive muscle weakness and sensory loss, which can severely impact mobility and quality of life. For them, there is currently no cure or treatment of the causes.

The Generet Prize, awarded by the Belgian King Baudouin Foundation provides the critical funding to build directly upon the foundation laid by Drs. Thomas and Jordanova. The €1 million will fuel a patient-focused research project, starting with nerve biopsies generously donated by the very families they have studied. The goal is to unravel how the genetic mutation leads to nerve degeneration and to test potential treatments in advanced laboratory models.

"We provide patient-centered care to address the physical and emotional needs associated with chronic neurological illnesses," said Dr. Thomas. "It has been very frustrating for our patients that until now no treatment options existed to improve the long-term prognosis. It is very rewarding that, through this and other research, potential treatment options are starting to appear on the horizon."

This award is a testament to the power of long-term collaboration and patient-focused research. For Dr. Thomas, it is a powerful affirmation of his career-long dedication, and for the thousands of families living with CMT, it represents a significant and hopeful step forward in the quest for a cure.

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