Advisory Board
Meet the experts advising our leadership team as we work toward a cure for Lafora disease.
Jordi Duran
Dr. Jordi Duran has made important contributions to understanding the molecular mechanisms of Lafora Disease, particularly the role of glycogen accumulation in neurodegeneration. His current work continues to explore these mechanisms, and builds on these discoveries to develop innovative treatment strategies using nanomedicine. This research is helping to redefine the scientific understanding of Lafora Disease and move the field closer to effective therapies.
Matthew Gentry
In 2016, Dr. Gentry led an effort to establish the NINDS-funded Lafora Epilepsy Cure Initiative that brought together leading Lafora Disease researchers around the world, focused on defining disease mechanisms and developing pre-clinical, disease-modifying therapies. More recently, the Gentry laboratory has defined metabolic changes in Lafora mouse models and human samples, while continuing to develop pre-clinical therapies.
Pascual Sanz
Dr. Sanz and his group have participated actively in understanding the molecular basis of Lafora disease (LD, OMIM254780, ORPHA501). They also described for the first time that the use of compounds that ameliorate proteostasis dysfunction benefits the neurological symptoms of Lafora disease mouse models. In this way, they participated in the designation of metformin as an orphan drug for the treatment of Lafora disease both by the European Medicines Agency and by the USA Food and Drug Administration, opening a way to possible clinical trials. Most recently, Dr. Sanz has been researching inflammation as a key marker of the disease.
Berge Minassian
Berge Minassian, MD is the chief of Pediatric Neurology at UT Southwestern and codirects UT Southwestern’s Gene Therapy program. In his role as Pediatric Neurology Division Chief, he oversees the training of next-generation clinical faculty in the conduct of clinical trials and management of gene-based therapies. Part of his laboratory is dedicated to a complete understanding of the basic mechanisms of Lafora disease, which led to a clinical trial now in progress with an antisense oligonucleotide that prevents the toxic glucan accumulations that underlie the disease.
Roberto Michelucci
Dr. Michelucci has been involved in the clinical and neurophysiological study of Lafora disease patients over the last 40 years. He conducted the natural history study in Bologna and performed the compassionate use trial of VAL-1221 in five patients. Dr. Michelucci remains committed to improve the management of Lafora disease.
Mr. Jeff Milton
La Jolla Labs
Viet V. Nguyen
Dr. Nguyen has been caring for patients and researching therapeutic approaches for Lafora Disease for nearly two decades. In collaboration with Dr. Delgado-Escueta, she developed and obtained FDA approval for compassionate use high-dose, extended-duration gentamicin, aimed at stopping codon suppression, as a potential therapeutic approach. They are currently focused on identifying the early signs and symptoms of Lafora Disease, as well as biomarkers of disease progression, to support the advancement of clinical trials.
Dr. Antonio Delgado-Escueta
David Geffen School of Medicine at UCLA
Dr. Jose Serratosa
Fundacion Jimenez Diaz University Hospital
Dr. Souad Messahel
Elpida Therapeutics
Dr. Francesca Bisulli
University of Bologna
Chelsea’s Hope c/o Dr. Donohue