Erika Augustine MD, MS
Co-Chair, TRNDS; Associate Director, Center for Health + Technology (CHeT), University of Rochester
Dr. Augustine is the Robert J. Joynt Associate Professor of Neurology, Pediatrics, and the Center for Health + Technology (CHeT) at the University of Rochester. Following residency training in Pediatrics and Pediatric Neurology at Harvard University/Boston Children’s Hospital, Dr. Augustine completed dual fellowships in Pediatric Movement Disorders and Experimental Therapeutics, with a focus on clinical trial design.
Dr. Augustine specializes in the care of children with movement disorders. Her clinical research program focuses on advancing therapeutic development for rare pediatric neurological disorders, with emphasis on comprehensive clinical phenotyping and trial design. Dr. Augustine leads clinical programs developing novel therapeutics for the neuronal ceroid lipofuscinoses (Batten diseases), a group of rare pediatric neurodegenerative disorders.
Alison Bateman-House PhD, MPH, MA
Assistant Professor, Department of Population Health, NYU School of Medicine
Alison Bateman-House, PhD, MPH, MA, is an assistant professor in the Division of Medical Ethics at NYU Langone Health’s School of Medicine. She is co-chair of the Working Group on Compassionate Use and Preapproval Access (CUPA), an academic group that studies ethical issues concerning access to investigational medical products and which is composed of patient advocates, clinicians, members of industry, former FDA staffers, lawyers, and academics. Bateman-House also serves as the non-voting, non-paid chair of the NYU/Janssen Compassionate Use Advisory Committees (CompACs) for Infectious Disease and NeuroPsychology. She has published and written extensively on ethical issues related to access to investigational medicines and human research.
Tauna Batiste MS
Executive Director, Batten Disease Support and Research Association (BDSRA)
Tauna Batiste, MS is the newly appointed executive director of the Batten Disease Support and Research Association (BDSRA). She joins BDSRA with over 20 years of professional experience in nonprofit operations. Beginning her lifelong career as a youth volunteer, Tauna has held roles in fundraising consulting, project management, program design and management, patient support, and executive leadership. She hails most recently from the National Hemophilia Foundation, Central Ohio Chapter, where she served as Executive Director overseeing and providing services to the bleeding disorders community in a 28 county territory. With NHF she was able to increase patient engagement 500%, engaging new and lapsed patient families. Prior to joining NHF she served at United Way of Central Ohio where she managed the E3 program and acted as the Interim Director of Champion of Children. Tauna earned her masters degree from Eastern University and undergraduate from Taylor University – Ft Wayne.
Sharon Begley BA
Senior Writer, Science & Discovery, STAT News
Sharon Begley is the senior science writer at STAT, the life sciences publication of the Boston Globe, where she covers biomedical research. Before joining STAT at its 2014 launch, she had been the health and science correspondent at Reuters, the science editor and columnist at Newsweek, and the science columnist at the Wall Street Journal. She has won numerous awards for her journalism, and is the author of the New York Times best-seller Train Your Mind, Change Your Brain, among other books.
Derek Bowen BS
Vice President, Business Development & Strategy, Blackfynn
Prior to Blackfynn, Derek was Director, Transaction Advisory and Investment Management within the Worldwide Business Development unit of GSK. In role his efforts included leading a strategic focus on increased allocation of corporate capital and resource towards innovation as well as supporting traditional business development transactions including licensing, divestment and M&A activities. While at GSK, the Investment Management unit built stronger ties to the investor and entrepreneur communities, establishing a strategic portfolio in excess of $1.5B and generating positive cash flows to the corporate balance sheet. Prior to GSK, Derek was an Associate at DuPont Capital Management, a $30B+ institutional investor. As a member of the Private Markets Group, Derek supported private equity and venture investments, fundraising and client engagement efforts. Derek holds a BS from Lehigh University.
PJ Brooks PhD
Program Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences, NIH
Philip John (P.J.) Brooks is a Program Director in the NCATS Office of Rare Diseases Research(ORDR). Dr. Brooks received his Ph.D. in neurobiology from the University of North Carolina at Chapel Hill. After completing a postdoctoral fellowship at the Rockefeller University, Brooks became an investigator in the intramural program of the National Institute on Alcohol Abuse and Alcoholism. He developed an internationally recognized research program focused on two distinct areas: the molecular basis of alcohol-related cancer, and rare neurologic diseases resulting from defective DNA repair, including xeroderma pigmentosum, Cockayne syndrome and Fanconi anemia. Dr. Brooks is interested in accelerating clinical trials in rare diseases by moving beyond “one disease at a time” approaches. In addition to his responsibilities at NCATS, Dr. Brooks is the Working Group Coordinator for the NIH Common Fund program on Somatic Cell Genome Editing.
Wilson Bryan MD
Director, Office of Tissues & Advanced Therapies, Center for Biologics Evaluation & Research, FDA
Wilson Bryan is a board-certified neurologist who graduated from the University of Chicago Pritzker School of Medicine. He served on the Neurology faculty of the University of Texas Southwestern Medical School for 13 years. He has been an investigator on clinical trials in cerebrovascular disease and neuromuscular disorders, particularly amyotrophic lateral sclerosis. Dr. Bryan joined the United States Food and Drug Administration (FDA) in 2000, and now serves as Director of the Office of Tissues and Advanced Therapies (OTAT) in the FDA’s Center for Biologics Evaluation and Research.
Mona Chitre PharmD
Chief Pharmacy Officer & Vice PresidentIntegrated Clinical Strategy & Innovation
Dr. Chitre began her career with Excellus BlueCross BlueShield in August, 2000. She is currently an assistant clinical professor at St. John Fisher, Wegmans School of Pharmacy. Dr. Chitre has published over 30 articles, is on the editorial board for two journals, and is a sought after national speaker. In 2013, the Rochester Business Journal recognized her as a “40 Under 40” honoree. She has also been recognized as a 2014 “Woman to Watch” by the Diversity Journal. She was most recently just recognized asa “Woman of Excellence” by the Rochester Business Journal.
Danielle Edwards BA
Community Engagement Manager, Jett Foundation
Danielle is the Community Engagement Manager at the Jett Foundation, a foundation that works with Duchenne muscular dystrophy. Danielle’s passion for advocacy is fueled by her brother Tanner, who was diagnosed with Duchenne muscular dystrophy at a young age. Over the last 18 years, the Jett foundation has raised over $16 million dollars that have been used for promising biomedical Duchenne research. The foundation has also established direct service programs, and educational activities designed to meet the needs of affected families. At the Jett Foundation, Danielle organizes the Family Workshop series, an event that brings families living with Duchennes together in a learning and supportive environment.
Emily Farkas PA-C
Emily Farkas is from Pittsburgh, PA and is a mother of two kids, Grace, age 2 and Hank, age 1. She resigned from her full time position as a Physician Assistant in Ob/Gyn to care for her son, Hank, when he was diagnosed with a rare genetic neuromuscular disorder, Spinal Muscular Atrophy. Emily is an advocate for those affected with SMA, she aided in the addition of SMA to the Pennsylvania Newborn Screening. PA is only the 6th state to achieve this, and the detection of this genetic variant ensures early diagnosis and treatment. Emily also used her medical knowledge to navigate the healthcare system to locate a physician to administer Gene Therapy to her son through Compassionate Use and the Managed Access Program. Hank is a thriving toddler achieving new milestones each day, largely attributable to his mother’s diligence and never give up attitude.
Tanya Fischer MD, PhD
Global Project Head, Sanofi-Genzyme
Tanya Fischer, M.D., Ph.D., is an adult neurologist with a clinical subspecialty in chronic neuropathic pain and demyelinating diseases, such as multiple sclerosis. At Sanofi, Tanya is a Global Project Head of Parkinson’s Disease and Rare Neurology. She oversees the clinical development of several programs in neurological and rare diseases. Dr. Fischer is an MD with neurology residency training at Yale University and a PhD in Neuroscience and Cell Biology from Rutgers University, where she investigated the effect of neurotrophins on basal forebrain-medial septal oligodendrocytes. The goal to better define the underlying pathophysiology of chronic neuropathic pain syndromes, using an animal model of neuropathic pain and by analyzing human forms of chronic neuropathic pain. Dr. Fischer was successfully able to integrate her dual training in neuroscience and clinical neurology into translational research of chronic neuropathic pain disorders.
John J. Foxe PhD
Director, Del Monte Institute for Neuroscience, University of Rochester
John Foxe is the Kilian J. and Caroline F. Schmitt Chair in Neuroscience, Director of The Del Monte Institute for Neuroscience, and serves as Chair of the Department of Neuroscience at The University of Rochester. His research investigates the neurobiological bases of neurodevelopmental and neuropsychiatric conditions such as Autism and Schizophrenia. He uses electrophysiological and neuroimaging techniques to understand how inputs from the various sensory systems are combined in the brain, and what happens when these multisensory integration abilities are impacted by disease.
John has authored more than 250 research and clinical papers, book chapters, commentaries, and proceedings and serves as editor-in-chief of The European Journal of Neuroscience. Before joining the University in 2015, he was director of research for the Children’s Evaluation and Rehabilitation Center at the Albert Einstein College of Medicine.
Jayne Gershkowitz BA
Chief Patient Advocate, Amicus Therapeutics
Jayne C. Gershkowitz joined Amicus in June 2006 and currently serves as Chief Patient Advocate. She is a long-time patient advocacy professional with expertise in the rare disease community, specifically in the LSD space. Prior to joining Amicus, Ms. Gershkowitz served as Executive Director at the NTSAD Association, where she co-founded the LSD Research Consortium in partnership with the National Institute of Neurological Disorders and Stroke (NINDS) and established the NTSAD Research Initiative. Ms. Gershkowitz is active in several organizations within the rare disease community as well as the broader biotech arena. She is a Co-founder and Chair of the Patient Advocacy Committee of BioNJ, and Vice President of Education of the Board of Directors of the NTSAD Association.
Martin Graham PhD
CEO, Empire Discovery Institute
Martin Graham joined the Empire Discovery Institute in April 2019. Martin is a successful drug developer and serial entrepreneur with over 30 years of experience in the development of small molecule drugs and biologics. He brings a wealth of pharmaceutical industry experience with Sterling-Winthrop, Sanofi, Centocor, Johnson & Johnson, and venture backed biotechnology companies including TetraLogic Pharmaceuticals. Prior to joining EDI, Martin was the CEO, President and Founder of PKPD Biosciences which he merged with his second company KinderPharm before being acquired by Synteract.
David Jacoby MD, PhD
Vice President, Head of Clinical Science, BioMarin Pharmaceuticals
David Jacoby M.D., Ph.D.is the BioMarin Fellow of Clinical Science, and VP, Head of Clinical Science at BioMarin Pharmaceuticals. He oversees development stage programs at BioMarin which include gene therapy programs; biologics for phenylketonuria (PKU), achondroplasia and Sanfillipo B diseases; and a small molecule platform for Friedreich’s ataxia. He has overseen global approvals of biologics for Morquio, Battens and PKU diseases. David has 15 years of experience in biopharmaceuticals, and has led clinical and regulatory efforts for several development programs from translational research to NDA filing.
Karl Kieburtz MD, MPH
Professor of Neurology, University of Rochester Medical Center
Dr. Karl Kieburtz is a Professor of Neurology at the University of Rochester Medical Center. He was the founding Director of the Center for Human Experimental Therapeutics (CHET), which conducts learning phase clinical trials and evaluates novel technologies in a wide spectrum of disorders. Dr. Kieburtz’s primary clinical and research interests are neurodegenerative diseases affecting the basal ganglia. He was the Principal Investigator for the NINDS sponsored trials of neuroprotective agents for Parkinson’s Disease (NET-PD) and served as the Chair of the Parkinson Study Group. He completed his MD and MPH degrees at the University of Rochester.
Jinkuk Kim PhD
Research Fellow, Division of Genetics & Genomics, Harvard Medical School
Jinkuk Kim is an RNA and computational biologist. He recently worked with Timothy Yu at Boston Children’s Hospital to develop a fully patient-customized antisense oligonucleotide therapy for a young child with Batten disease, an ultra-rare, fatal, neurological condition in children. Currently, he is a research fellow at Harvard Medical School and Boston Children’s Hospital, co-advised by Peter Park and Timothy Yu. Previously, he received his Ph.D. from Harvard-MIT Division of Health Science and Technology, working on small regulatory RNAs with David Bartel at Whitehead Institute for Biomedical Research.
Nikki Marinsek PhD
Data Scientist, Evidation Health
Nikki is a Data Scientist at Evidation Health, a company whose mission is to measure health in everyday life. Her work focuses on characterizing, monitoring, and predicting symptoms of various medical conditions using streams of data that are passively and continuously collected as study participants go about their daily lives. The goal of her work is to develop new measures of health and disease that are more sensitive, more objective, less episodic, and less burdensome to individuals than existing measures and that can be introduced into regulatory and clinical settings. Before joining Evidation, Nikki earned a PhD in Dynamical Neuroscience from the University of California, Santa Barbara, where she was an NSF Graduate Fellow, a UCSB Doctoral Scholar, and a SAGE Center Graduate Fellow.
Rachel McMinn PhD
Founder & CEO, Neurogene Inc.
Dr. McMinn founded Neurogene in January 2018 with the mission of providing genetic medicines to improve the lives of neurologically-impaired and developmentally-delayed children and their families. Dr. McMinn currently serves as President and CEO of Neurogene. Prior to this, she spent 17 years in the biotechnology industry, most recently serving as the Chief Business and Strategy Officer of Intercept Pharmaceuticals, a company dedicated to patients with serious liver disease. Dr. McMinn was also an award-winning biotechnology analyst, with 13 years of experience at firms including Bank of America Merrill Lynch, Cowen, and Piper Jaffray. She earned her doctorate from The Scripps Research Institute and was awarded a Post-Doctoral Miller Fellowship at the University of California, Berkeley.
Sean Nicholson PhD
Professor, Department of Policy Analysis & Management, Cornell University
Sean is a professor in the Department of Policy Analysis and Management(PAM) at Cornell University, the Director of the Sloan Program in Health Administration, and a Research Associate at the National Bureau of Economic Research. He is currently conducting research in three areas: the value of new medical technology; the extent and benefits of physician specialization; and the causes and consequences of geographical variation in medical spending. Prior to joining the PAM Department in 2004, Sean was a faculty member in the Health Care Systems Department at The Wharton School of the University of Pennsylvania. Sean worked for four years as a management consultant with APM and taught high school for two years before enrolling in graduate school.He received a B.A. from Dartmouth College in 1986 and a Ph.D. in economics from the University of Wisconsin-Madison in 1997.
Elissa Orlando MPA
Strategic Liaison, Clinical & Translational Science Institute, University of Rochester Medical Center
Elissa Orlando is Strategic Liaison in the Clinical and Translational Science Institute (CTSI). She plans, implements, and manages programs and projects for the CTSI, principally related to CTSI goals of a Learning Health System and population health. Elissa fosters and supports relationships with UR and URMC in support of the CTSI activities, and she collaborates with working groups of clinical and translational researchers to help advance their projects. Prior to joining the CTSI, Elissa served as a community member on the CTSI Strategic Leadership Group.
Traci Schilling MD
Executive Director, Gene Therapy Clinical Development, PTC Therapeutics
Traci B. Schilling, MD is a neurologist with Fellowship training in Neuromuscular Medicine. She practiced medicine in New England for seven years prior to shifting her focus to pharmaceutical development in rare disorders. She has held multiple roles in Medical Affairs, including Medical Science Liaison and Medical Director. She joined PTC as the Duchenne Muscular Dystrophy Therapeutic Area Lead, and currently is Executive Director of Gene Therapy Clinical Development.
Benjamin Schlatka MBA
CEOt and Co-Founder, MC10
Ben’s passion for growing and leading science-based businesses and his multidisciplinary expertise in both material science and electronics led him to co-found MC10 in 2008. Prior to MC10, Ben helped grow Nantero’s carbon nanotube electronics business (sold to Lockheed Martin Corporation) and led marketing and sales for a Volunteer Solutions.org (winner 1998 MIT 50K, sold to the United Way). He began his career as a corporate intrapreneur as one of the founding team members of IBM’s Networking Hardware microelectronics business – today greater than a billion dollars in sales. Ben’s other passion is coaching individuals on building their careers in technology and serves as an executive coach at the Harvard Business School, where he earned an MBA.
Scott Steele PhD
Co-Chair, TRNDS; Director, Regulatory Science Programs, Clinical & Translational Science Institute, University of Rochester
Scott Steele, PhD is the Director of Regulatory Science Programs in the Clinical and Translational Science Institute at the University of Rochester and associate professor in the Department of Public Health Sciences. Prior to joining the University of Rochester, he served in the White House Office of Science and Technology Policy. He completed his MA and PhD in Molecular Biology at Princeton University. Dr. Steele develops and leads regulatory science and translational science programs, including as Director of the Regulatory Science to Advance Precision Medicine Initiative that evaluates emerging science and regulatory considerations for areas such as digital health, biomanufacturing, regenerative medicine and genomics. He currently serves on the FDA Science Board.
Marshall Summar MD
Director, Rare Disease Institute, Children's National Health System; Chairman of the Board, National Organization for Rare Disorders
Dr. Summar joined Children’s National in 2010 where he built and leads the Rare Disease Institute. He is best known for his work in developing registries and treatment standards for rare diseases. His laboratory work currently focuses on filling gaps in knowledge and testing for biochemical rare disorders.He has been listed with Best Doctor’s in America since 2004. He is the National Organization for Rare Disorders Board Chairman and helped develop NORD programs around natural history studies, undiagnosed disorders, and clinical centers of excellence in rare disease.
Holly Tabor PhD
Associate Professor, Stanford University
Holly Tabor, PhD, is an Associate Professor of Medicine and the Associate Director for Clinical Ethics and Education. Her scholarship focuses on the use of new genomic-based technologies in three main areas: 1) genomic sequencing; 2) gene-targeted/gene therapies; 3) the experiences of patients and families with genetic conditions. She has published mixed-methods studies of experiences with genetic testing and decisions about gene-targeted therapies, as well as the experiences of families with children who are undiagnosed or who are undergoing genomic analyses. She is also working on several projects related to health disparities among, and inclusive health practices for patients with disabilities.
Nancy Yu BS
Co-Founder & CEO, RDMD
Nancy is the CEO and Cofounder of RDMD, a medical data science company that helps to identify patients & generate data to enable regulatory submissions and real world evidence in rare disease. Prior to RDMD, Nancy was the Head of Corporate Development at 23andme, where she worked on business strategy and operations for the therapeutics and next-generation sequencing divisions. Prior to 23andme, Nancy was a biotechnology investment banker on Wall Street and a consumer healthcare private equity investor. Nancy started her career in research at the University of Pennsylvania, where she received a dual degree in Biology and Finance from the Wharton School of Business.
Dina Zand MD
Medical Officer, Center for Drug Evaluation & Research, FDA
Dina Zand, MD is a medical officer in the Division of Gastroenterology and Inborn Errors Products (DGIEP) in the Center for Drug Evaluation and Research (CDER) at the FDA. She received both her undergraduate and medical degrees from Northwestern University. She completed her residency in pediatrics at St Louis Children’s Hospital and clinical genetics training at the Children’s Hospital of Philadelphia. Prior to joining the FDA she held academic positions at Washington University in St. Louis and Children’s National Medical Center/George Washington University. Her academic work has resulted in both basic science and clinical based publications.