The International Fragile X Premutation Registry

Videos: Hear From Project Leaders and Premutation Carrier Scott Lorigan

Project Leader Dr. David Hessl Introduces the International Fragile X Premutation Registry

Project leader Dr. David Hessl introduces the International Fragile X Premutation Registry and its importance for the Fragile X community.

Interview with Scott Lorigan about the International Fragile X Premutation Registry

Hosted by Drs. David Hessl and Randi Hagerman, Scott Lorigan discusses his experiences as a premutation carrier, including his FXTAS diagnosis, the importance of clinical research, and the unique, valuable partnership that can develop between families and researchers in the pursuit of new discoveries.

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Watch How to Enroll in the International Fragile X Premutation Registry

In this video, Hilary Rosselot walks you through enrolling in the registry. If you need additional help, please contact us.

David Hessl, PhD

UC Davis MIND Institute

David Hessl is a professor in the Department of Psychiatry and Behavioral Sciences at the University of California, Davis, where he is on the faculty of the MIND Institute. He is a licensed clinical psychologist and the head psychologist at the Fragile X Research and Treatment Center at UC Davis, where FXTAS (Fragile X-associated tremor/ataxia syndrome) was first discovered and reported in 2001.

Dr. Hessl is director of the Translational Psychophysiology and Assessment Laboratory (T-PAL) at the MIND Institute. T-PAL is primarily devoted to development of novel outcome measures for use in clinical trials for individuals with neurodevelopmental disorders.

Dr. Hessl’s career has focused on Fragile X-associated disorders since 1998, having published 114 peer-reviewed journal articles on these topics to date. He is a lead investigator of a research program supported by the National Institute of Neurological Diseases and Stroke, focused on neuropsychological and neurological changes in Fragile X premutation carriers to determine key risk factors and early signs of neurodegeneration related to FXTAS. This work has also uncovered genetic and brain mechanisms contributing to mental health challenges in premutation carriers, supported by the National Institute of Mental Health. Dr. Hessl serves on the National Fragile X Foundation’s Clinical Trials and Scientific & Clinical Advisory Board committees.

Robert Miller

Director of Clinical & International Relations, National Fragile X Foundation

Robert Miller has been working — for nearly five decades — with families who have a child or children with special needs, along with the professionals who work with those children and families. He is particularly interested in how families learn about, access, and receive meaningful information and services from competent professionals, organizations, and institutions. His interests led to his co-founding the Fragile X Clinical & Research Consortium. During the past 20 years, he has had the opportunity to assist with the development of Fragile X parent support organizations and clinics throughout the world.

He has been associated with the NFXF since 1999 and currently serves as the National Fragile X Foundation’s director of clinic & international relations.

Peter Todd, MD, PhD

University of Michigan

Peter K. Todd  is the Bucky and Patti Harris Professor in the Department of Neurology at the University of Michigan Medical School. As a clinician, Dr. Todd co-directs Michigan University’s Multidisciplinary Ataxia Clinic, where he sees patients with FXTAS (Fragile X-associated tremor/ataxia syndrome), and the Fragile X Syndrome Clinic, where he sees adult patients with Fragile X syndrome. He  also serves as director of the Clinical Neurogenetics Research Program, which aims to improve research and care for patients with inherited neurological disorders.

As a physician-scientist, Dr. Todd’s lab studies the mechanisms by which nucleotide repeat expansions cause neurodevelopmental and neurodegenerative disorders with a long-term goal of developing novel therapeutics for currently untreatable conditions. His lab has published extensively on Fragile X-associated disorders, such as Fragile X syndrome and FXTAS, as well as C9orf72 repeat expansions that cause ALS (amyotrophic lateral sclerosis, or Lou Gehrig’s disease) and frontotemporal dementia.

In the past decade, Dr. Todd has given over 80 invited presentations across the world and published over 50 papers on his research. He has received several academic awards, including the Alliance S. Weir Mitchell Award from the American Academy of Neurology, the Hagerman Prize from the National Fragile X Foundation, and the Derek Denny-Brown Young Neurological Scholar Award from the American Neurological Association (its highest and most prestigious award).

He currently serves on the executive committee of Michigan University’s Center for RNA Biomedicine and is also a member of the Biomedical Research Council. He is a standing member of the Cellular and Molecular Neurodegeneration Study Section at the National Institutes of Health, the research committee at the American Academy of Neurology, and the professional development committee at the American Neurological Association.

Deborah Hall, MD, PhD

Rush University

Deborah Hall is an adult neurologist and movement disorder specialist at Rush University Medical Center in Chicago.  She earned her medical degree from Indiana University and her doctorate from the University of Colorado, where she completed her residency and fellowship.

Dr. Hall is the director of the FXTAS Clinic at Rush, founder of the Chicago Fragile X Research Group, and works closely with Dr. Elizabeth Berry-Kravis in the Fragile X-associated disorders program. She is an endowed chair of the Parkinson’s Foundation, the director of the Movement Disorder Program at Rush University, and a Rush University institutional review board chair.

She has expertise in large epidemiology studies, clinical trials, and human subject research. She has been conducting research in FXTAS for over 15 years and has published several phenotype and epidemiological papers related to the disorder. She has participated in 17 R01 (an NIH research project grant program) projects, many related to FXTAS.

Dr. Hall has a clinical practice treating movement disorder patients and a secondary research focus on Huntington’s disease, stem cell transplantation, and clinical trials in Parkinson’s disease.

Stephanie Sherman, PhD

Emory University

Stephanie Sherman, currently a Professor Emerita at Emory University, has been involved in research of Fragile X-associated disorders for her entire career as a human geneticist.

Dr. Sherman’s early work helped to identify the unique aspects of the inheritance of Fragile X syndrome prior to the discovery of the FMR1 gene. Since that time, she has been involved in understanding why the premutation increases the risk for ovarian dysfunction in women and for neurologic problems in both men and women. Her team aims to identify factors that trigger the onset of symptoms in some but not all carriers. The ultimate goal is to identify perturbed biological pathways that have the potential to provide new insights into prevention and intervention.

Together with her colleagues, she has had the honor to work with hundreds of families who have been diagnosed with Fragile X-associated disorders and is grateful for this experience.  Dr. Sherman has also had the opportunity to work closely with the National Fragile X Foundation’s efforts to promote research, care, and awareness.

Dr. Sherman highly supports the International Fragile X Premutation Registry, which is essential to facilitating and expanding new clinical research in this area and will increase collaboration between families and investigators.

Anne Wheeler, PhD

RTI International

Anne Wheeler is a licensed neurodevelopmental psychologist and senior researcher at RTI International. She is also an adjunct associate professor at the Carolina Institute for Developmental Disabilities in the UNC School of Medicine.

Dr. Wheeler has been involved in research and clinical service for individuals with Fragile X syndrome and associated neurogenetic conditions for over 20 years. Her main research interests include health and well-being among individuals with an FMR1 expansion; measurement, predictors, and consequences of specific developmental and behavioral profiles in individuals with developmental disabilities; family and maternal adaptation to genetic syndromes; and the development of strength-based/positive psychology focus in child and family research. She currently leads the follow-up task for Early Check, assuring that all babies identified as having an FMR1 gene expansion receive confirmatory testing, genetic counseling, family support, and developmental surveillance and intervention.

Melissa Raspa, PhD

RTI International

Melissa Raspa studies early childhood education and development with a focus on children with intellectual and developmental disabilities and their families. Much of her work has examined the impact of Fragile X syndrome on children and families, including the health and social development of individuals with Fragile X syndrome and family well-being.

Dr. Raspa began working at RTI International in 2005. She currently serves as principal investigator and co-investigator for two ongoing projects on fragile X syndrome, both funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Dr. Raspa also leads the evaluation of the New York – Mid-Atlantic Consortium for Genetic and Newborn Screening Services and collaborates with partners at the University of North Carolina at Chapel Hill on a technical assistance project that assists states in examining family outcomes of early intervention. She has received RTI’s Highly Published, Career Author, and President’s awards.

Jayne Dixon-Weber

Former Director of Education & Support Services, National Fragile X Foundation

Jayne Dixon-Weber, former director of education and support services at the National Fragile X Foundation, has two children: an adult son with Fragile X syndrome and a daughter who does not carry the condition.

Jayne has been involved in many books on Fragile X and is the author of Transitioning Special Children into Elementary School, editor of Children with Fragile X Syndrome: A Parents’ Guide, co-author of Fragile X Fred, and contributor to the book Perfect Game,  which has a character with Fragile X syndrome.

Sundus Alusi, MBChB, MD, FRCP*

The Walton Centre

Sundus Alusi is a consultant neurologist at the Walton Centre NHS Foundation Trust, U.K., since 2004. She subspecializes in movement disorders. She has a special interest in tremor, Huntington’s disease, FXTAS, and deep brain stimulation. She has published her research in several peer-reviewed journals. She has been an active co-investigator in ENROLL-HD, the largest international registry study. Dr. Alusi is aiming to contribute to the development of the International Fragile X Premutation Registry as a platform for future research into the disease and its treatment.

*MBChB is a bachelor of medicine, bachelor of surgery; FRCP is Fellows of the Royal College of Physicians.

Karen Lipworth

Fragile X Association of Australia

Karen Lipworth is a board member of the Fragile X Association of Australia. She is also a qualified veterinarian and currently holds the position of technical services lead for the companion animal business unit of MSD Australia & New Zealand. The role involves leading a team to provide technical support for customers and consumers of key brands such as Bravecto and Nobivac vaccines. She works closely with the marketing, sales, and regulatory affairs teams. Prior to moving into the pharmaceutical industry, Dr. Lipworth worked as a veterinarian in small animal practices in the U.K. and Australia.

Dr. Lipworth has the Fragile X premutation and is passionate about raising awareness of the premutation and its associated conditions in the medical profession.

Jim Grigsby, PhD

University of Colorado

Jim Grigsby is a professor of psychology (Division of Health Care Policy and Research) and a professor of medicine at the University of Colorado.

He graduated from the University of Kansas, the University of Regina (formerly the University of Saskatchewan, Regina), and the University of Colorado Boulder. The Grigsby Lab conducts research in the general area of cognitive neuroscience and neuropsychology. He studied the cognitive-neuropsychological phenotype of Fragile X syndrome in the 1980s and ʼ90s, and he has focused on FXTAS (Fragile X-associated tremor/ataxia syndrome) since 1999. His R01 (an NIH research project grant program) from the National Institute on Neurological Disorders and Stroke, in collaboration with colleagues at the University of California, Davis, was the first to yield data on the neurological, neuropsychological, and neuroimaging phenotypes of FXTAS.

Dr. Grigsby’s current research focuses on people with premutations of the FMR1 gene. Among other topics, he is currently interested in comorbid autoimmune and inflammatory disorders among females with the FMR1 premutation, neuroimaging in FXTAS, and the gut-brain axis in different Fragile X phenotypes.

Maureen Leehey, MD

University of Colorado

Maureen Leehey is board-certified in neurology and psychiatry and a fellowship-trained movement disorders specialist. She attended the University of Texas Medical School in Houston and completed her residency and fellowship at the University of Colorado.

Dr. Leehey is the division chief for the Movement Disorders Program at the University of Colorado. She has over 25 years of experience managing movement disorder patients, which makes her the senior movement disorders specialist in the Rocky Mountain Region. During her time at the University of Colorado, she has managed thousands of patients with Parkinson’s disease.

Dr. Leehey is dedicated to treating people, not diseases. She treats movement disorders in patients with FXTAS (Fragile X-associated tremor/ataxia syndrome), Parkinson’s disease, atypical Parkinsonian disorders, essential tremor, dystonia, ataxia, and Huntington’s disease. Her expertise in FXTAS began in the 1990s when she and Dr. Randi Hagerman characterized the neurological and movement disorders findings in FXTAS for the first time. Since then, she has worked with colleagues around the world to advance knowledge of this disorder, including via five NIH-funded studies. Notably, Dr. Leehey developed the FXTAS rating scale, which is now the standard tool used to assess the movement abnormalities in this disorder.

Trevor Hawkins, MD

University of Colorado

Trevor Hawkins is a board-certified neurologist with subspecialty expertise in movement disorders. He received his medical degree at the University of Toledo College of Medicine. Subsequently, Dr. Hawkins completed his neurology residency and movement disorders fellowship at the University of Colorado Anschutz Medical Campus.

Dr. Hawkins currently sees patients at the UCHealth Neurosciences Center, Anschutz Medical Campus in Aurora, Colorado, and the Denver VA Medical Center and is working to develop the movement disorders telehealth network through UCHealth.

Ana María Cabal Herrera, MD

Congenital Malformations and Dysmorphology (MACOS), Universidad Del Valle

Ana María Cabal Herrera is a physician from Cali, Colombia. She completed medical school at Universidad del Valle and has since worked as a research assistant for the research group on Congenital Malformations and Dysmorphology (MACOS) led by Dr. Wilmar Saldarriaga and as a volunteer for the Colombian Association of Fragile X Syndrome (Asociación X Frágil Colombia). She completed the International Training Program in Neurodevelopmental Disabilities (ITPND) at the UC Davis MIND Institute with Dr. Randi J. Hagerman as her primary mentor.

Jonathan Cohen

Fragile X Alliance

Dr. Jonathan Cohen is a parent and medical practitioner in private practice in Melbourne, Australia. He is the medical director of the Fragile X Alliance Clinic in Melbourne and has over 25 years clinical experience working with individuals, families, and caregivers. He is an Honorary Senior Fellow, Department of Paediatrics, University of Melbourne and Honorary Research Associate, Diagnosis and Development, Victorian Clinical Genetics Service, an Australian not-for-profit subsidiary of Murdoch Children’s Research Institute. Dr. Cohen works full time in clinical practice in Melbourne and also as a consultant to a number of national and international organizations. He is involved with numerous research projects, author of multiple articles for medical, allied health journals, and the lay press and presents regularly throughout Australasia on Fragile X syndrome and Fragile X-associated conditions.

Tamaro S. Hudson, PhD, MPH

Howard University

Tamaro Hudson is an associate professor of pharmacology at Howard University College of Medicine. He received his training from Iowa State University, Ohio State University, George Washington University, and the National Cancer Institute/NIH.

Dr. Hudson is a molecular pharmacologist with expertise in cancer, natural products, molecular biology, and pharmacogenetics. He has integrated his research focus by identifying novel signature biomarkers with the evaluation of new chemopreventive cancer strategies, which have been evaluated in Phase I and Phase II clinical trials. His expertise in cancer-related processes, specifically mitochondrial health, which is critical in neurodegenerative diseases, has allowed him to transfer these skills to FXTAS. Currently, his lab assesses the biological activity of natural compounds on mitochondrial health in FXTAS. His research interests continue to expand in order to build collaborations across broad disciplines.

Dr. Hudson has served on the board of the Maryland Fragile X Resource group, which focuses on uniting families challenged with Fragile X. His personal experience with this syndrome and current research interest in FXTAS create a unique opportunity to assist with the development of the International Fragile X Premutation Registry.

Sonya K. Sobrian, PhD

Howard University

Sonya Sobrian is an associate professor of pharmacology at Howard University College of Medicine. She received her training from St. John’s University (NYC), the University of Ottawa, and Carleton University (Ottawa, Ontario, Canada).

Dr. Sobrian is a neurobehavioral pharmacologist with expertise in developmental and reproductive toxicology. As director of the developmental behavioral pharmacology laboratory, her major research focus is the behavioral, immunological, and neurotoxicological consequences across the life span of prenatal and neonatal environmental manipulations, and sex-related differences in disease etiology.

Dr. Sobrian has served as director of the Behavioral Neuroscience Program at the National Science Foundation and her experience on scientific federal review panels spans 40 years. Although her interest in the FXTAS is recent, she recognizes the potential of the International Fragile X Premutation Registry to facilitate new clinical research. Dr. Sobrian will add her expertise in animal modeling and evaluation of behavioral domains to assessing compounds for their mitigating effects on the motoric, cognitive, and affective aspects of FXTAS behavioral phenotypes.

Anna De Sonia

Director of Research Facilitation, National Fragile X Foundation

Anna De Sonia joined the NFXF team in 2024. She has many years of research experience, starting out as a clinical research coordinator at Rush University Medical Center in Chicago in 2010. There she worked on a variety of clinical trials in the pediatric neurology division, specializing in Fragile X research. Anna earned her bachelor’s in psychology and obtained a clinical research coordinator (CCRC®) certification through the Association of Clinical Research Professionals.