Scientific Advisory Board:
Krizelle obtained her bachelor’s and master’s degree in Molecular Biology and Biotechnology from the University of the Philippines in Manila, Philippines. Diagnosed with NF2 in 2007, she pursued NF2 research for her BS and MS theses wherein she demonstrated the inactivation of the neurofibromin 2 tumor suppressor gene by deregulated miRNAs in cancer cells leading to enhanced oncogenicity. Upon earning her bachelor’s degree in 2012, she initially worked in a private laboratory providing genetics and cell therapy services to cancer patients. She then joined the Philippine Genome Center (PGC) in 2013 as part of the team that established the center’s DNA sequencing core facility. Under the Health Program of the PGC, she has led a cancer project which aimed to detect and characterize novel ethnicity-specific mutations among Filipino colorectal cancer patients which may serve as predictive biomarkers for response to anti-EGFR therapy. Currently, she works under a cell-based ADMET assays project as part of the drug discovery program for priority disease indications of the Philippines’ Department of Science and Technology. Krizelle hopes to use her experience as both a molecular biologist and an NF2 patient to further the molecular understanding and treatment strategies of neurofibromatosis type 2.
Joseph Kissil, Ph.D.
Dr. Joseph Kissil earned his Ph.D. in molecular biology from the Weizmann Institute of Science in Rehovot, Israel. He completed a post-doctoral fellowship at the Massachusetts Institute of Technology, where he specialized in the development of mouse models of cancer. During this time Dr. Kissil’s work focused on understanding the biological processes involved in Neurofibromatosis type 2. In 2004 Dr. Kissil joined the faculty at the Wistar Institute in Philadelphia where his work on NF2 continued. His group identified key functions of Merlin, the protein encoded by the NF2 gene, which offered potential targets for therapeutic intervention. Since 2012 Dr. Kissil is at the Scripps Research institute where he is a Professor in the Department of Molecular Medicine. His group continues to work on understanding the molecular basis of NF2 and developing advanced tools and models to assess therapeutics.
Randall D. Learish, Ph.D.
Dr. Learish received his degree in Biology from Westminster College, his Ph.D. in Molecular Genetics and Biochemistry from the University of Pittsburgh School of Medicine, and did his postdoctoral work at the University of Wisconsin-Madison.
He worked for Promega Corporation until 2008 when he joined Cellular Dynamics International as a senior scientist. He has led projects that include the creation of human induced pluripotent stem cell (iPSC) lines, genetic engineering of iPSC lines with lineage specific promoters, differentiation of iPSCs into cardiomyocytes (CM) or neurons, and development of large scale processes to manufacture cells. He is currently setting up a facility to manufacture dopaminergic neurons in a GMP environment, with the intention of supporting an investigational new drug (IND) application for the treatment of Parkinson’s disease. He and his wife, Lisa, have two children. Lisa was diagnosed with mosaic NF2 in 2013. Randy hopes to use his experience in translational research to advance treatment strategies for NF2, and to find a cure.
Cara O’Neill, MD
Cara O’Neill, MD graduated Cum Laude with a degree in Biological Sciences from the University to Delaware where she was inducted into Phi Beta Kappa Honor Society in 1997. She went on to receive her medical degree from West Virginia University School of Medicine and subsequently her Pediatric Residency training at the University of South Carolina. She has worked both in private practice and academic settings. During her tenure as an Assistant Professor of Clinical Pediatrics at the University of South Carolina, she helped train medical students and residents and practiced in a clinic specific to children with special healthcare needs.
Dr. O’Neill now serves as the Chief Science Officer at Cure Sanfilippo Foundation where she oversees the foundation’s basic science and clinical trial grants, collaborates in clinical trial protocol design, and leads internal research efforts. She became passionately involved in rare disease research and advocacy after her daughter’s diagnosis of Sanfilippo syndrome (MPS III) in 2013. Her uniquely paired career and life experiences allow her to bridge gaps between scientists, clinicians, industry and families, helping foster patient-centered research and translational paths forward for rare disease treatments.
Cara lives in Columbia, SC with her husband Glenn, son Beckham and daughter Eliza. She enjoys travel and exploring the world with her family.
Dr. Marc L. Otten earned his medical degree at Cornell University, where he graduated with honors. He completed a neurological surgery internship, residency, and chief residency at the Columbia University Neurological Institute of New York. In addition, he completed a fellowship at the Minimally Invasive Cranial Base Surgery Center at Thomas Jefferson University in Philadelphia, specializing in endoscopic, microsurgical and nonoperative approaches to brain and spinal disorders. Dr. Otten’s practice is devoted to tumors of the brain, skull base tumors, gliomas, meningiomas, acoustic neuromas, pituitary tumors, craniopharyngiomas, and microvascular decompression (MVD) for trigeminal neuralgia, and hemifacial spasm. He also treats hydrocephalus and neurotrauma.
He uses endoscopy, laser ablation, awake craniotomy, and other specialized techniques to minimize risk to patients with disorders of the brain. He has been published in leading, peer-reviewed journals about his work on noninvasive methods for mapping brain function in patients with brain tumors, which helps maximize tumor resection while maintaining optimum safety.
Aziz Rehman, M.D.
Dr. Rehman graduated with Honors, Magna Cum Laude, in Biochemistry from Temple University, and was selected for Phi Beta Kappa in 2002. During his undergraduate years, he obtained a National Science Foundation grant to perform haematology research in the laboratory of Dr. Deane Mosher at the University of Wisconsin-Madison School of Medicine. He studied the effects of thrombospondin on fibronectin extracellular matrix assembly. In 2009, he earned his medical degree from St. Matthew’s University School of Medicine.
He has worked in biotech and medical device industries and obtained a regulatory affairs dual certificate in pharmaceuticals and medical devices from Regulatory Affairs Professionals’ Society (RAPS). He worked at MediMedia Health Inc., a contract research organisation, Merck & Co., Inc., and DePuy Synthes companies of Johnson & Johnson. While at Merck, he supported a Phase 3b trial in CNS/Neurology as well as a Phase 2 trial in Immuno-Oncology.
Dr. Rehman is a performance driven physician executive with extensive experience in clinical trial management. He is knowledgeable of full life cycle product development of biopharmaceuticals and medical devices in the functional areas of clinical development, pharmacovigilance, regulatory affairs, and medical affairs for investigational medicinal products and combination of drug/device products. Additionally, he has worked in multiple therapeutic areas including CNS/Neurology, Immuno-Oncology, Endocrinology, Rheumatology, Surgery (including trauma, orthopedics, neurosurgery, spine, and craniomaxillofacial surgical subspecialties) and molecular biochemistry.
Aziz’s fortitude interests include developing novel therapies for unmet genetically based diseases utilising modern day molecular biology techniques such as RNAi for gene silencing and CRISPR Cas 9 genome editing complexes. He would like to develop gene therapies for Neurofibromatosis Types 1 & 2, Diabetes Type 1 & 2, autoimmune diseases, lysosomal storage diseases, Tay Sachs disease, Niemann-Pick, Pompe’s disease, and Gaucher’s disease.
Dr. Rice graduated with a degree in Biology and Chemistry from the Indiana University of Pennsylvania and received her doctorate degree in Molecular Cell Biology and Genetics from the Drexel University College of Medicine. She completed her post-doctoral training at the Wistar Institute.
Dr. Rice then joined Genesis Biotechnology Group, LLC , where she directed a team of scientists in multiple cancer drug discovery programs that spanned target identification/validation, ultra-high throughput assay development and validation, hit-to-lead and lead optimization, through preclinical development. More recently, she has moved into the field of gene therapy and worked at the Gene Therapy Program at the University of Pennsylvania where she served as the Director of Analytics. In that role, she oversaw potency assay development and qualification, all vector release and characterization assay development and qualification, analytical technical transfer to CMO, CTO, and sponsors, stability programs, compatibility studies, and contributed extensively to CMC sections of regulatory filings. She has recently joined BioMarin Pharmaceuticals where she will contribute to multiple gene therapy programs. Lyndi lives in San Francisco with her husband and daughter and she is committed to advancing research in gene therapy for rare diseases.
Kaleb Yohay, Ph.D.
Associate Professor of Neurology and Pediatrics (Clinical) at NYU Langone Health. My career is centered on improving the lives and health of adults and children with Neurofibromatosis 1, Neurofibromatosis 2, Schwannomatosis and related conditions. I am the Director of the Comprehensive Neurofibromatosis Center at NYU Langone.
I have an interest in the development of best practices for symptom screening, treatment, and age appropriate anticipatory guidance for children and adults with NF. The NYU Langone NF Center is part of a national clinical trial consortium for NF, and as such, we are actively participating in several clinical trials for treatment of tumors in NF1 and NF2. I am a member of the Programmatic Review Panel for the Department of Defense, Congressionally Directed NF Research Program. Additionally, I recently joined the Clinical Research Award Review Panel and the Clinical Care Advisory Board for the Children’s Tumor Foundation.
In addition to my interests in Neurofibromatosis, I have a longstanding interest in undergraduate and graduate medical education and training. From 2007 until 2014 I was the Residency Program Director for the Child Neurology Residency at WCMC/NYP.