Lafora Disease Research Roundtables
Our quarterly, virtual Lafora Disease Research Roundtables bring the community together as we work towards our vision of a cure for Lafora disease. The Roundtables are a space for researchers, clinicians, industry partners, families, and allied rare disease organizations to share updates on current projects, and foster discussion and collaboration. We invite you to join us!
Upcoming Lafora Disease Research Roundtables
Check back for details about the 2025 Roundtable series.
A Zoom Registration link will be sent one month in advance. The roundtables will not be recorded. However, we will share a written summary with you afterward. The summaries will be accessible through the list below.
Please contact Scientific Director Dr. Kit Donohue with questions or suggestions.
Roundtable Summaries
Dr. Teresa Rubio
Teresa Rubio, Ph.D.
Universidad Europea de Valencia
Title of Presentation: Beneficial effect of Fingolimod in Lafora disease mouse models
Dr. Teresa Rubio got her PhD in 2012 at the Biomedicine Institute of Valencia under the supervision of Pascual Sanz and Santiago Vernia. During her PhD studies, “Molecular Mechanism of Lafora Disease,” she contributed to the knowledge of the pathophysiology of Lafora disease by using cell lines and yeast as models. Then, she received the Marie Curie-Eipod postdoc grant and moved to EMBL at Heidelberg (Germany). During this period, she continued in the field of phosphatases under the supervision of Dr. Maja köhn and enrolled in a mouse biology project and mouse-derived organoids.
After her stay at EMBL in 2017, she returned to Spain to the Molecular Cancer Biology lab, directed by Dr. Antonio Gentilella at IDIBELL in Barcelona. While there, Dr. Rubio applied her knowledge of organoids and mouse biology to a cancer biology project.
In 2021, she returned to Valencia to Dr. Pascual Sanz’s laboratory to continue studying Lafora disease. During this last period, she stayed at Lund University in Dr. Isaac Canals’ laboratory to learn new techniques using human pluripotent stem cells. Moreover, she participated in a project to test new repurposing drugs in Lafora mouse models. At this time, Dr. Rubio is a professor at the European University of Valencia and continues contributing to the studies of Lafora disease at Dr. Pascual Sanz’s laboratory.
Bumwhee Lee, Genixcure
Bumwhee Lee
GenixCure
Title of Presentation: AAV Gene Therapy for Lafora Disease
Bumwhee Lee is a researcher from the Korean pharmaceutical company GenixCure. He has been working in neuroscience for five years.
In the first half of the Roundtable, Luis Zafra Puerta (from Dr. Serratosa’s lab) shared recent findings about Myozyme, and Dr. Matthew Gentry shared new data analysis on Val-1221.
In the second half of the Roundtable, Dr. Berge Minassian updated the community on the safety study he announced at the 2023 Symposium.
Matthew Gentry, Ph.D.
University of Florida
Matt Gentry is Chair of Biochemistry & Molecular Biology in the College of Medicine at the University of Florida. He has nearly 20 years of experience working on glycogen storage diseases, including Lafora Disease. He has been continuously funded by NIH since 2007. Dr. Gentry is a science advisor for Chelsea’s Hope, Glut1 Deficiency Syndrome Foundation, and Adult Polyglucosan Body Disease Foundation, in addition to several for-profit companies.
Sharmistha Mitra, Ph.D.
University of Texas Southwestern Medical Center
Sharmistha Mitra, Ph.D., is an Instructor in the Department of Pediatrics, Division of Child Neurology at UT Southwestern Medical Center. She joined the UT Southwestern faculty in July 2020.
Dr. Mitra earned a bachelor’s in Zoology at the University of Calcutta in Kolkata, India. She then completed a Bachelor of Science in Biological Sciences, Molecular, Cellular, and Developmental at the University of New Hampshire, graduating summa cum laude.
In 2013, she completed a Doctor of Philosophy in Biological Sciences in the field of ubiquitin-binding domains at Virginia Tech University. Dr. Mitra focuses much of her research on protein modification by ubiquitin and its impact on diseases with a focus on glycogen metabolism.
Dr. Mitra’s objective is to present a comparative murine study of the amylopectinoses of APBD, Lafora Disease, and PGBM1 at the roundtable. She will share a mechanistic understanding of the function of E3 ubiquitin ligases and their associated proteins in glycogen metabolism.
Jeff Milton
La Jolla Labs, Inc
Jeff is the Founder and CEO of La Jolla Labs, a company developing technology for RNA therapeutics. Prior to this, Jeff was Head of Data Sciences at Arcturus Therapeutics, where he worked on several rare disease programs, including both RNA-targeting and mRNA modalities.
Jeff then served as Director of Functional Genomics and Drug Discovery at Ionis Pharmaceuticals, where he led teams in bioinformatics and screening software. He also worked in the Bioinformatics Department at Genentech. Jeff currently serves as an advisor to his alma mater, the Mellon College of Science at Carnegie Mellon University.
Jeff will update the Lafora community about pathways to clinical trials and answer questions from families.
Chelsea’s Hope, Post Office Box 348626, Sacramento, CA 95834