Scott Demarest, MD MSCS
Chief Precision Medicine Officer, Precision Medicine Institute, Children’s Hospital Colorado
Associate Professor, Departments of Pediatrics and Neurology, University of Colorado School of Medicine

Dr. Scott Demarest is the Chief Precision Medicine Officer at Children’s Hospital Colorado’s Precision Medicine Institute. He is an associate professor in the Department of Pediatrics, Division of Neurology at the University of Colorado. His clinical practice and research focus on the evaluation and treatment of neurogenetic conditions. This includes clinical trials for novel therapeutics, natural history studies and the development of improved outcome measures. As the CPMO, he supports the clinical implementation of cutting-edge diagnostic and therapeutic approaches across the CHCO system through the Center for Transformative Therapeutics and the Center for Innovative Genomics.

Richard Finkel, M.D.
Director of Center of Experimental Neurotherapeutics
St. Jude Children’s Research Hospital

Richard Finkel has served as chief of neurology at Nemours Children’s Hospital in Orlando and is a professor of neurology at the University of Central Florida College of Medicine. He joined the St. Jude faculty March 16, 2020. Finkel will also have privileges at Memphis‐based Le Bonheur Children’s Hospital and will have an adjunct faculty appointment in the Department of Pediatrics at the University of Tennessee Health Science Center. The three organizations will partner in the creation of a Neuroscience Research Consortium investigating treatments for children with devastating neuromuscular diseases.

Ashley Kuniholm
Regulatory Affairs Manager
Boston Children’s Hospital
Harvard University

Ashley Kuniholm graduated from Boston University with a BS in Human Physiology. She was an IRB administrator at Boston Children’s Hospital for seven years before transitioning to the Institutional Centers for Clinical and Translational Research: Clinical Research Operations Center as a clinical research project manager. Ashley now serves as the Regulatory Affairs Managers, assisting investigators across the Hospital with their FDA-regulated research and providing regulatory education to the BCH Research Community.

Marlen Lauffer, M.D
IDRM Transition Research Fellowship, Lab head
Institute of Developmental and Regenerative Medicine, University of Oxford, UK

Marlen Lauffer is a physician-scientist trained in medicine, biochemistry, and human molecular genetics. After completing her doctorate at the University of Munich in 2019, she held research positions in Rotterdam and Cologne before joining the Dutch Center for RNA Therapeutics in Leiden in 2021. She helped establish the center between 2021 and 2026. Since February 2026, Marlen leads the Interventional Precision Genomics Lab at the University of Oxford. Her work focuses on identifying patients for emerging genetic therapies and developing frameworks and computational tools to assess therapeutic actionability. Marlen is actively involved in national and international initiatives aimed at advancing individualised genetic therapy developments and plays a leading role in several projects within the N=1 Collaborative. Her work integrates genomic analysis, clinical translation, and community collaboration to help accelerate the path from genetic diagnosis to therapeutic intervention.

Erin McConnell, Ph.D.
Research Scientist
Carleton University

Erin M. McConnell is currently a research scientist in the Laboratory for Aptamer Discovery and Emerging Research (LADDER) at Carleton University in Ottawa, Canada. Her research expertise lies at the intersection of DNA nanotechnology and building DNA-based tools to monitor and improve human health. She completed a B.Sc. in Neuroscience (minor in chemistry) and her Ph.D. in Chemistry, at Carleton University, under the supervision of Dean Maria C. DeRosa. She also trained as a postdoctoral fellow with Prof. Yingfu Li at McMaster University, and as a research associate in Prof. Vincent Tabard-Cossa’s lab at the University of Ottawa prior to returning to Carleton University. Additionally, Erin is passionate about science outreach and communication, and is honoured to bring these skills to the N1C.

Matthis Synofzik, MD
Professor of Neurology, Head of Division
Research Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, 1 Mutation 1 Medicine (1M1M)

Marlen Lauffer is a physician-scientist trained in medicine, biochemistry, and human molecular genetics. After completing her doctorate at the University of Munich in 2019, she held research positions in Rotterdam and Cologne before joining the Dutch Center for RNA Therapeutics in Leiden in 2021. She helped establish the center between 2021 and 2026. Since February 2026, Marlen leads the Interventional Precision Genomics Lab at the University of Oxford. Her work focuses on identifying patients for emerging genetic therapies and developing frameworks and computational tools to assess therapeutic actionability. Marlen is actively involved in national and international initiatives aimed at advancing individualised genetic therapy developments and plays a leading role in several projects within the N=1 Collaborative. Her work integrates genomic analysis, clinical translation, and community collaboration to help accelerate the path from genetic diagnosis to therapeutic intervention.

Bryan J. Traynor, M.D., Ph.D.
Senior Investigator
National Institute of Aging

Dr. Traynor is a neurologist and a senior investigator at the National Institute on Aging. He is best known for his work unraveling the genetic causes of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). He led the international consortium that identified a pathogenic hexanucleotide repeat expansion in the C9orf72 gene as a cause of a large proportion of ALS and FTD (Neuron 2011). His team also identified the same mutation in ~1% of patients clinically diagnosed with Alzheimer’s disease (NEJM 2012).

Other notable achievements of his laboratory include discovering mutations in the VCP, MATR3, and KIF5A genes as causes of familial ALS (Neuron 2010, Nature Neuroscience 2014, Neuron 2018).

Dr. Traynor is the co-recipient of the 2013 Sheila Essey Award and 2016 Potamkin Prize for his discovery of the C9orf72 repeat expansion as an important cause of neurodegeneration. He also received the 2012 NIH Director’s Award for his continued commitment to our understanding of ALS. He was elected Fellow of the American Neurological Association in 2012 and a fellow of the Royal College of Physicians of Ireland in 2020.

Dr. Traynor has over 200 publications in the neurology field, and he is an inventor on three issued patents.

Olivia Kim-McManus M.D.
UCSD Associate Professor of Neurosciences, Rady Children’s Institute for Genomic Medicine

Olivia Kim-McManus is a physician scientist and Associate Clinical Professor of Neurosciences funded by the California Institute for Regenerative Medicine, National Institutes of Health/NCATS, with specialization in pediatric neurology, epilepsy, and clinical neurophysiology. Her research focuses on the discovery, development and delivery of targeted precision therapeutics for rare genetic diseases in neurology including antisense oligonucleotide therapies (ASO) for developmental epileptic encephalopathy, leukodystrophy and other rare causal variants presenting with neurologic symptoms such as seizures, autism, and developmental delay/regression in infants and children. She established and directs the Rady Precision Therapeutics Neuro-Interventional Program, delivering targeted therapy via Ommaya reservoir. Her expertise includes regulatory experience as IND holder and PI for n=1 clinical trial intrathecal delivery of personalized ASO and seeks to expand access of such genetic therapies from n=1 to n=more. She serves as Rady Neurology Section Vice Chief of Medical Staff Executive Committee and on numerous Advisory Boards including Illumina, Combined Brain, Epilepsy Foundation SD, UCSD Altman Clinical and Translational Research Institute Scientific Review Board, DEE-P, PERC Research Committee, Child Neurology Society Research Committee, AES Translational Research Committee, N1C SAB.

Jillian Belgrad
M.D./Ph.D Candidate, MS3
Khvorova Lab, RNA Therapeutics Institute, UMass Chan Medical School

Jillian Belgrad is an MD/PhD student at UMass Chan Medical School in her final year of training. She completed her PhD in 2025 in the lab of Dr. Anastasia Khvorova at the RNA Therapeutics Institute, where she studied how small interfering RNAs (siRNAs) could be used to target somatic repeat expansion in Huntington’s disease. This work sparked her broader interest in developing nucleic acid–based therapies for genetic and neurodegenerative conditions. Jillian became involved with the N-of-1 Collaborative (N1C) through her role as a trainee representative on the Oligonucleotide Therapeutics Society (OTS) Board of Directors from 2022 to 2024. At N1C, she serves on the organizing committee for the Annual Meeting and co-chairs the Scientific Advisory Board. She is committed to advancing therapies for rare and ultra-rare diseases through collaborative, patient-centered approaches, and is especially motivated by the opportunity to work alongside patients, families, clinicians, and scientists to accelerate progress in this field. After graduation, she plans to pursue a residency in pediatric neurology, with the goal of caring for children with neurological conditions while helping expand access to emerging genetic therapies.

Peter Oliver, PhD
Head of Research, Nucleic Acid Therapy Accelerator
Associate Professor of Neuroscience, University of Oxford

Peter comes to the N=1C with over 30 years’ experience in molecular genetics and neuroscience. He ran a research group for ten years at the University of Oxford, focussing on identifying novel mechanisms underlying genetic forms of epilepsy and neurodegenerative disorders. In 2022, he joined the Nucleic Acid Therapy Accelerator, an academic Unit in the UK combining new chemistry and biology approaches to advance ASO and siRNA therapeutics. Peter is Head of Research at NATA, overseeing internal R&D and multiple collaborative pre-clinical projects, including a number of ultra-rare and N=1 programmes.

Roger J Paxton, PhD
Research Manager, Precision Medicine Institute, Children’s Hospital Colorado

Peter comes to the N=1C with over 30 years’ experience in molecular genetics and neuroscience. He ran a research group for ten years at the University of Oxford, focussing on identifying novel mechanisms underlying genetic forms of epilepsy and neurodegenerative disorders. In 2022, he joined the Nucleic Acid Therapy Accelerator, an academic Unit in the UK combining new chemistry and biology approaches to advance ASO and siRNA therapeutics. Peter is Head of Research at NATA, overseeing internal R&D and multiple collaborative pre-clinical projects, including a number of ultra-rare and N=1 programmes.

Stephan Sanders
Professor of Paediatric Neurogenetics, Department of Paediatrics, University of Oxford

Stephan Sanders is Professor of Paediatric Neurogenetics in the Department of Paediatrics at the University of Oxford, a member of faculty at the University of California, San Francisco (UCSF), and an affiliate of the New York Genome Center (NYGC). He trained as a paediatrician before undertaking a PhD and Postdoctoral studies in Genetics and Bioinformatics at Yale University. In 2014, he started his lab at the University of California, San Francisco (UCSF) before moving to Oxford in 2022. He specialises in the genetics of autism spectrum disorder and other neurodevelopmental disorders, and he has helped identify hundreds of genes associated with these disorders. He sits on the Scientific Advisory Board of several patient advocacy groups focusing on specific genetic disorders. His group works on genomics, functional genomics, and genetic medicines. Dr. Sanders is the Director of the MRC Centre of Research Excellence (CoRE) in Therapeutic Genomics, co-leads the Genetics Medicine Frontier Science Hub and an IMPACT Network site of the Aligning Research to Impact Autism (ARIA) project and is a leader of the Autism Sequencing Consortium and a SFARI Sex Differences Collaboration project.

Willeke van Roon-Mom, PhD
Professor Translational Studies of Neurodegenerative Disorders, Department of Human Genetics, Leiden University Medical Center

Willeke van Roon-Mom (WvRM) is professor at the Human Genetics department of the LUMC and works on autosomal dominant neurodegenerative diseases that have aberrant protein aggregation as a pathological hallmark. Her work is highly translational in nature, working in close collaboration with clinical departments as well as biotechnology and pharmaceutical companies. This research has resulted in 3 published patents, some licensed to companies as well as industry sponsored research projects. Unique patient-driven fund raising initiatives contribute not only financial input, but also patient perspective to research programs in her group. Originally her main expertise was in Huntington’s disease, a brain disorder caused by a polyglutamine expansion in the huntingtin protein. However, her group is now also focusing on other polyglutamine disorders as well as a very rare disease caused by a mutation in the APP gene called HCHWA-D (Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch type) also known as Katwijk’s disease. For all these disorders she studies the molecular disease mechanism, identify biomarkers and then use this knowledge to develop novel therapies.
The first clinical trial for an antisense-mediated therapy for patients with spinocerebellar ataxia type 1 is planned for the end of 2021. As co-director of the recently launched Dutch Center of RNA Therapeutics she hopes to develop treatments for patients with ultra-rare hereditary brain disorders. Using cell models, animal models and patient materials she applies and develops a wide range of molecular, genomics and biosemantics assays. She uses human induced pluripotent stem cells (iPSC) as a model system. This is such an important model system for brain research at the LUMC that she has set up an iPSC neurodifferentiation lab in the department that facilitates the use of these cells for other researchers, providing technical support and standardized protocols.

Tobias Pöhlmann
CEO, XNApharma
Professor for Biomaterials, University of Applied Science in Zwickau, Germany

As a trained biologist, Dr. Tobias Pöhlmann has long been interested in the development of therapeutic oligonucleotides. Consequently, during his postdoctoral research, he worked on novel siRNA sequences and therapeutic concepts, and co-founded BianoScience—a company renamed XNApharma in 2023—to develop therapeutic siRNA for the treatment of breast cancer. In parallel, he co-founded BianoGMP—a company now part of EUROAPI—which specializes in the GMP manufacturing of oligonucleotides in early stages of development. Alongside these activities, Dr. Pöhlmann is passionate about giving lectures to young students and supporting them on their path toward earning a Master’s degree or a PhD.

Margaret Meserve, M.S., CGC
Boston Children’s Hospital

Margaret is a genetic counselor at Boston Children’s Hospital in the Yu Lab. She has always been interested in ways of communicating complicated scientific concepts in accessible language and understanding how people perceive risk. With a background in neuroscience, genetics, and rare disease, she examines therapeutics and genetic concepts from both a scientific and psychological lens. Working in the Yu Lab, Margaret is responsible for evaluating variants and responding to interested physicians and families, as well as maintaining conversations and collaboration with the participants enrolled in studies at BCH.

Winston Yan, M.D., Ph.D.
Founding President, N=1 Collaborative
Director, Center for Genetic Surgery (CGS), Broad Institute