Gerald Downes, PhD is Professor of Biology at the University of Massachusetts Amherst (UMass). Prior to joining the faculty at UMass, Dr. Downes received a B.S. in Biology from Johnson C Smith University, a Ph.D. in Neuroscience from Washington University School of Medicine, and postdoctoral training from the University of Pennsylvania Medical School. His research lab has two related goals, both using developing zebrafish as a model system. One goal is to better understand how neural networks in the brain and spinal cord are assembled to control movement. More recently, due to personal and professional reasons, he established a second goal, which is to provide new insights into epilepsies, like TBCK Syndrome, and develop new therapeutics to treat these disorders.

Dr. Judy Liu studies pediatric epilepsy as a clinical and basic researcher. She has worked on both rare and common forms of the disorder focusing on cytoskeleton, gene expression, and metabolism. She earned an MD./ Ph.D. at the Albert Einstein College of Medicine, and did her residency in neurology at Beth Israel Deaconess Medical Center, a Harvard Medical School affiliate, where she was chief resident. After post-doctoral studies, she joined the faculty at George Washington University. In 2018, she moved to Brown University where she is Associate Professor and Associate Director for the Center for Translational Neuroscience.

Dr. Xilma Ortiz-Gonzalez is a physician-scientist specializing in pediatric neurogenetics. She trained as a child neurologist at CHOP and her clinical practice focuses on the diagnosis and management of ultra-rare disorders. She has contributed to the discovery of multiple novel human disease genes, including TBCK, and first characterized the disease symptoms linked to the Boricua founder variant in this gene. Her research focuses on unraveling the molecular mechanisms that underlie neurodegeneration. Her laboratory uses patient-derived iPSC stem cells with the ultimate goal of identifying potential therapeutic strategies. She is the recipient of numerous awards, including the RWJ Harold Amos Faculty Development Award, the Burroughs Wellcome Fund CAMS Award, the Al Dia Top Doctor Award, the ANA Emerging Scholar Award & the Philadelphia Magazine Top Doctor Award. She is a proud Boricua and mother of 2 young children.

Dr. Albino is an experienced clinical / molecular diagnostics professional with leading edge advanced genetics knowledge. She brings strong research and teaching capabilities and a customer centered with process optimization mindset. The needs of our TBCK Warriors and their families are always top of mind.

Dr. Jorge Santiago-Ortiz is the Vice President of Chemistry, Manufacturing, and Controls (CMC) and Regulatory Affairs at Apertura Gene Therapy. He holds a B.S. in Chemical Engineering from the University of Puerto Rico, Mayagüez, graduating with maximum honors, and a Ph.D. in Chemical and Biomolecular Engineering from the University of California, Berkeley. His doctoral research in Dr. David Schaffer’s laboratory focused on the engineering of lentiviral and adeno-associated virus (AAV) vectors for gene therapy applications. Dr. Santiago-Ortiz began his industry career at BioConsortia Inc., where he directed the fermentation, scale-up, and technology transfer of beneficial plant-associated microbes to enhance crop yields and plant health. He later served as Senior Director of Process R&D at BioCentriq, a cell and gene therapy CDMO, where he led the Process R&D group and oversaw technology transfer and process development for gene and cell therapy clinical products, contributions that directly supported the CDMO’s eventual acquisition. At Apertura, Dr. Santiago-Ortiz oversees internal and outsourced manufacturing operations and drives CMC and regulatory strategy, ensuring alignment with preclinical and operational priorities. Beyond his role at Apertura, he serves as the Co-Chair of the American Society of Gene and Cell Therapy’s Workforce Development Committee.

Dr. Zimyanin, a TTF Pilot Grant Awardee 2024 is continuing his work to uncover and understand the underlying principles of spindle assembly on a nano-scale level. Understanding the role of cell polarity, endosomal trafficking and metabolism in organism development and neurodegenerative disease including TBCK Syndrome.