Ultra-rare Gene-based Therapy (URGenT) Network

Dr. Trey Putman, Ph.D., RAC (Pharmocology)

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Dr. Putnam attended Pittsburg State University as an undergraduate where he majored in Chemistry and conducted research in polymer chemistry. He was also a NSF undergraduate research fellow at the University of Oklahoma where he conducted research in X-ray crystallography under Prof. Dick van der Helm. Dr. Putnam then attended Washington University in St. Louis where he earned a M.S. and Ph.D. in Organic Chemistry under Prof. James K. Bashkin. His research focused on the design and development of artificial ribonucleases as potential novel infectious disease therapeutic agents. Dr. Putnam then moved to the Midwest Research Institute where his research focused on the pharmacology candidate therapeutic agents including developing sensitive analytical and bioanalytical methods. Additional research interests included biomarkers of polycystic kidney disease, catalytic antibodies, and artificial ribonucleases. Dr. Putnam then took an appointment at Texas Tech University Health Sciences Center as an Assistant Professor in the School of Pharmacy. He also served as the laboratory director of the Pediatric Pharmacology Research and Development Center. Dr. Putnam then took a position with Cardinal Health’s Scientific and Regulatory Consulting Division where he provided drug development/regulatory consulting to numerous pharmaceutical companies. Dr. Putnam eventually assumed the role of general manager and was responsible for strategic, managerial, and operational aspects of the business. Dr. Putnam then returned to Texas Tech’s School of Pharmacy as a Professor where he remains today. His current research interests include: clinical pharmacology, differential metabolism of disease states, biomarker identification/validation, and advanced analytical/bioanalytical methodology.

Dr. Marc Lemaitre, Ph.D. (CMC)

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Dr. Marc Lemaitre has a very long experience and deep with oligonucleotide therapeutics, mainly focusing on Chemistry, Manufacturing and Control [CMC]. Dr. Lemaitre holds a Master’s degree in Organic Chemistry and a Ph.D. in Biochemistry, both from the University of Liège [Belgium]. Dr. Lemaitre was also research associate in the laboratory of Nobel Laureate Dr. Luc Montagnier at the Institut Pasteur in Paris.  With over 20 years of experience in the fields of Biotech research, production, QA, development, especially with oligonucleotides for therapeutic applications, he has extensive training and specialization in Nucleic Acids.  When being CEO of Girindus America [now Avecia Cincinnati], a manufacturer of active pharmaceutical ingredients (API’s), with a focus on Therapeutic Oligonucleotides), he did supervise the manufacturing of more than 30 oligonucleotides for clinical trials. He authored several CMC parts for innovative drug applications [IND] and/or their European counterparts and published more than 50 papers. Dr. Lemaitre is member of the USP Expert Committee BIO-1.

Dr. Amie Franklin, Ph.D. (Regulatory Affairs) 

Dr. Amie Franklin has 25 years of experience in the pharmaceutical/biopharmaceutical industry with a focus on authoring clinical and regulatory documents for early stage programs from pre-IND to phase 2 proof of concept in multiple disease areas including rare diseases, CNS, cancer, pain, respiratory, and substance abuse. Dr. Franklin conducted doctoral and postdoctoral research in the field of cell biology at Stanford University and University of California, Berkeley, respectively.

Dr. Gene Williams, Ph.D. (ADME and Clinical Pharmacology)

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Dr. Williams has more than 25 years of experience in strategic planning and review of drug metabolism and pharmacokinetics-related elements of comprehensive drug development programs (from nonclinical IND enabling studies through NDA/BLA submission and post-marketing studies). Gene worked on over 600 different drugs as a Clinical Pharmacology Team Leader at FDA and over 400 as an FDA Primary Reviewer. Molecule types included non-biologics of all types, peptides, oligonucleotides, glycoprotein mixtures, antibodies and antibody-drug conjugates, liposomes, and nanoparticles.

As a consultant, Gene has advised several dozen clients regarding drug metabolism and transport, interpretation of non-clinical and clinical pharmacokinetics, investigational dose regimen selection from First-In-Human to Phase 3, drug interaction and specific population dosing, and bioavailability/relative bioavailability. Molecule types included non-biologics of all types, antibodies and antibody-drug conjugates, and cell and gene therapies.

C. Frank Bennett, Ph.D.
Executive VP & Chief Scientific Officer, Ionis Pharmaceuticals

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Dr. Frank Bennett is responsible for preclinical antisense drug discovery and antisense technology research at Ionis Pharmaceuticals. He is also the franchise leader for neurological programs at Ionis. He has been involved in the development of antisense oligonucleotides as therapeutic agents, including research on the application of oligonucleotides for inflammatory, neurodegenerative diseases and cancer, oligonucleotide delivery, pharmacokinetics and medicinal chemistry. Dr. Bennet is a co-recipient of the 2019 Breakthrough Prize in Life Sciences for his contributions to the discovery and development of SPINRAZA® (nusinersen) and the 2018 Hereditary Disease Foundation’s (HDF) Leslie Gehry Brenner Prize for Innovation in Science for his leadership and continued commitment to developing antisense therapies for Huntington’s disease (HD). Dr. Bennett has published more than 200 papers in the field of antisense research and development, and he is an inventor on more than 175 issued patents.

Carsten G. Bönnemann, M.D.
Senior Investigator, Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS

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Carsten Bönnemann graduated from Medical School at the University of Freiburg/Germany, trained in pediatrics in Hamburg and Göttingen, in child neurology at Massachusetts General Hospital/Harvard, followed by postdoctoral and neuromuscular training at Boston Children’s Hospital. He was Co-Director of the Neuromuscular Program at CHOP before joining the NIH as Chief of the Neuromuscular and Neurogenetic Disorders Section at NINDS. His work focuses on early onset neuromuscular disorders and the development of genetic therapies. He received the Derek Denny-Brown Neurological Scholar and Jacoby Awards by the ANA, and the MDA Legacy Award. He is Co-Editor-in-Chief of the Journal of Neuromuscular Diseases.

Lori L. Isom, Ph.D.
Michigan Neuroscience Institute Affiliate Chair of Department of Pharmacology; Maurice H. Seevers Collegiate Professor of Pharmacology, Professor of Molecular and Integrative Physiology, Professor of Neurology

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Dr. Isom is the Maurice H. Seevers Professor and Chair of the Department of Pharmacology at the University of Michigan Medical School. Her laboratory investigates voltage-gated sodium channels and the roles of sodium channel gene variants in developmental and epileptic encephalopathy using a combination of mouse models, human iPSC neurons and cardiac myocytes, and transgenic rabbits. She collaborated with Stoke Therapeutics to develop the first gene-modifying therapy for Dravet syndrome. Dr. Isom is Co-PI of the NINDS EpiMVP Center Without Walls, chair of the Dravet Syndrome Foundation Scientific Advisory Board, and previous board member of the American Epilepsy Society. She is a Fellow of the AAAS, Fellow of the American Society for Pharmacology and Experimental Therapeutics, and Fellow of the American Epilepsy Society, and an elected member of the National Academy of Medicine.
 

Petra Kaufmann, M.D., M.Sc.
Chief Medical Officer, vigil NEURO

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Petra Kaufmann is a physician-scientist and drug developer.  Following an academic career at Columbia University in New York City, she joined the NIH initially overseeing extramural clinical research at NINDS, then Clinical Innovation and Rare Diseases Research at NCATS.  Dr. Kaufmann has spent her industry career in small and large companies where she worked on multiple modalities including large and small molecules, RNA-based and AAV gene therapies.  She trained in Neurology, Neuromuscular Disorders and Clinical Neurophysiology at Columbia University.  Dr. Kaufmann holds an MD from the University of Bonn, and an MS in Biostatistics from Columbia University. 

Anastasia Khvorova, Ph.D.
Professor, RNA Therapeutics Institute and Program in Molecular Medicine; Remondi Family Chair in Biomedical Research, UMass Chan Medical School

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Anastasia Khvorova, PhD, has more than 20 years of experience developing oligonucleotide technology and therapeutics. She is a professor in the RNA Therapeutics Institute and Program in Molecular Medicine at the University of Massachusetts (UMass) Chan Medical School, where her lab brings together hardcore organic and oligonucleotide chemists with RNA biologists and pharmacologists to develop novel approaches and solutions to understanding natural and therapeutic RNA trafficking and delivery. Dr Khvorova founded the UMass Nucleic Acid Chemistry Center, the only nonprofit facility in North America capable of gram-scale synthesis of modified oligonucleotides. Dr Khvorova is principal investigator on major National Institutes of Health and Department of Defense grants. She serves as a director of the Oligonucleotide Therapeutics Society and previously was Director-at-Large and Scientific & Research Council Chair of the American Society of Gene and Cell Therapy.

Cara O’Neill, M.D. FAAP
Chief Science Officer, Cure Sanfilippo Foundation

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Cara O’Neill, MD, is the Chief Science Officer and Co-Founder of the Cure Sanfilippo Foundation. Her daughter, Eliza, bravely lives with Sanfilippo syndrome type A, a rare neurodegenerative metabolic disease. Before shifting her primary focus to advocacy and research, Dr. O’Neill practiced general pediatrics for over a decade, specializing in the care of children with medically complex special needs. Her unique combination of professional and personal experience enables her to bridge gaps between scientists, clinicians, industry, and families. She collaborates extensively with stakeholders across the rare disease community to advance patient-centered research, clinical trial design, and advocacy initiatives. Her contributions include the publication of the first clinical care guidelines for Sanfilippo syndrome, caregiver preference and drug repurposing studies, and the development of fit-for-purpose clinical outcome measures.

Toni S. Pearson, M.D.
Attending Pediatric Neurologist, Nationwide Children's Hospital; Professor of Pediatrics, The Ohio State University College of Medicine.

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Toni Pearson is a pediatric neurologist and movement disorders specialist at Nationwide Children’s Hospital and The Ohio State University College of Medicine. Her clinical research interests focus on the characterization and treatment of rare neurogenetic conditions associated with childhood motor disorders. She is a Co-Investigator on an ongoing NINDS-sponsored clinical trial assessing midbrain delivery of gene therapy to treat AADC deficiency.