A Discussion and Q&A on the Fragile X Syndrome Research Landscape — Panel

Featuring Elizabeth Berry-Kravis, MD, PhD, Craig A. Erickson, MD, Randi J. Hagerman, MD, David Hessl, PhD, Tracy King, MD, MPH, Angel Wang, Jean Luan McColl, Laurie Bridges, Kara Frech, Emily Mack, Amie Milunovich, and Missy Zolecki

The Fragile X research landscape is always evolving. Understanding how the past has influenced the present is important, but what about our future? A variety of panelists will discuss their role in the Fragile X research ecosystem, the current Fragile X research landscape, what they anticipate for the future of Fragile X, and what we need to get there. Come learn and ask questions about Fragile X research and how you can get involved.

Runtime: 1:21:26

About the Panel

Hilary Rosselot

National Fragile X Foundation
Executive Director, Research Facilitation Lead

Hilary Rosselot is the executive director of the National Fragile X Foundation and leads the research facilitation program. Before joining the NFXF team, she worked at the Cincinnati Fragile X Research and Treatment Center for over five years. She has experience as a clinical research coordinator across many types of clinical trials and served as the clinical research manager for the Cincinnati program.

Elizabeth Berry-Kravis, MD, PhD

Rush University Medical Center
Professor

Dr. Elizabeth Berry-Kravis is a professor of pediatrics, neurological sciences, and biochemistry at Rush University Medical Center in Chicago. She attended the University of Notre Dame for her undergraduate studies and the University of Chicago for her medical degree, PhD, and training in pediatric neurology.

She moved to Rush in 1992 and established the Fragile X Clinic and Research Program, through which she provides care to over 700 patients with Fragile X syndrome.

She has studied Fragile X syndrome medical issues, epilepsy, and psychopharmacology, and has been a leader in translational research, including the development of outcome measures and biomarkers, natural history studies, newborn screening, and particularly clinical trials of new targeted treatments. Her laboratory studies the cellular roles of Fragile X mental retardation protein (FMRP), its relationship to phenotypes, and the optimization of genetic testing methods.

In the past decade, she has expanded clinical translational work to other neurodevelopmental disorders and genetic neurodegenerative diseases including autism spectrum disorder, Phelan-McDermid syndrome, Rett syndrome, Angelman syndrome, Smith-Magenis syndrome, DDX3X syndrome, Niemann-Pick type C, Batten disease, pantothenate kinase-associated neurodegeneration, and creatine transporter deficiency. She has over 250 publications on genetic neurological diseases and is on advisory and review boards for the FRAXA Research Foundation, National Fragile X Foundation, Phelan-McDermid Syndrome Foundation, International Rett Syndrome Foundation, Angelman Syndrome Foundation, Foundation for Angelman Syndrome Therapeutics, and the GATHER Foundation.

She has received the NFXF Jarrett Cole Clinical Award, FRAXA Champion Award, NFXF William and Enid Rosen Research Award, March of Dimes Jonas Salk Research Award, American Academy of Neurology Sidney Carter Award in Child Neurology, John Merck Fund Sparkplug Award, FRAXA Ingenuity Award, and Child Neurology Society Denckla Award for her work in treatment translation for Fragile x syndrome and genetic cognitive disorders.

Craig A. Erickson, MD

Cincinnati Children’s Hospital Medical Center
Professor

Dr. Craig A. Erickson is a professor of psychiatry at Cincinnati Children’s Hospital Medical Center and the University of Cincinnati College of Medicine-Affiliated. Dr. Erickson leads a neurodevelopmental clinical and research group focused on improving clinical care through research discovery. He is the director of the Cincinnati Fragile X Research and Treatment Center, which is one of the largest such programs in the world. He serves as the chair of the Clinical Trials Committee organized by the National Fragile X Foundation and is a leader in translational medicine efforts in Fragile X syndrome, autism, and related disorders. Additionally, he is the director of research in the Division of Psychiatry at Cincinnati Children’s Hospital.

Tracy King, MD, MPH

NIH/NICHD
Medical Officer

Dr. Tracy King is a medical officer at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH). She currently oversees the NICHD portfolio of research on Fragile X Syndrome and chairs the Trans-NIH Fragile X/FMR1 working group.

Dr. King earned a bachelor’s degree from Stanford University and a medical degree from Baylor College of Medicine. She completed her pediatric residency training at the Boston Medical Center and Boston Children’s Hospital and a general pediatrics research fellowship at Johns Hopkins University. Before joining NICHD in 2015, she was on the Pediatrics faculty at Johns Hopkins and researched early identification of children with developmental delays.

Angel Wang

Rush University
Clinical Coordinator

Angel Wang is the FXS clinic and research coordinator at Rush University Medical Center in Chicago. She works primarily on the FORWARD project and helps with other FXS studies (e.g., parent interviews, and study recruitment). Before joining the team, Angel worked in early intervention. She completed her graduate studies in social work and human and community development.

Jean Luan McColl

Emory University Genetic Clinical Trials Center
Clinical Research Coordinator

Jean Luan McColl is a clinical research coordinator at the Emory University Genetic Clinical Trials Center in Atlanta, GA. She has over 11 years of experience working with fragile X syndrome and other genetic neurodevelopmental and neurodegenerative disorders. Her favorite part of her job is meeting and working with families during onsite visit days!

Laurie Bridges

National Fragile X Foundation
NFXF Houston Chapter Leader, NFXF Board Member

Laurie and her husband, Will, are the proud parents of Caroline (full mutation) and Clark. Laurie has worked as an occupational therapist since 1999 and works in the Humble Independent School District near Houston. Not long after her daughter was diagnosed with Fragile X Syndrome, Will and Laurie began serving Fragile X families in the Houston area by forming an NFXF Community Support Group in 2011. She has attended five NFXF International Fragile X Conferences and was co-chair of the host committee for the 2016 conference in San Antonio.

Since the beginning of their Fragile X journey, the Bridges are thankful for the National Fragile X Foundation and how it supports families, promotes education and awareness, and puts a priority on research: “We keep moving forward and taking the next step. We are thankful for our Fragile X family because we are not alone!”

Kara Frech

National Fragile X Foundation
NFXF Board Member

Kara and her husband, Steve, are the proud parents of two teenage boys, Andrew and Jason, both diagnosed with Fragile X syndrome in 2007. Upon diagnosis, Kara immersed myself in all things Fragile X to learn how to help her boys lead successful, fulfilling lives. The NFXF was and is her go-to source for this.

In 2012, Kara co-founded the Southeast Pennsylvania Fragile X Community Support Network group and continues to lead the group by organizing educational conferences, social events, and X Strides walks for local families.

Kara’s passion for helping others lead successful lives with Fragile X along with her skills acquired as a former management consultant and currently as a stay-at-home parent contribute to supporting the NFXF’s mission while serving on the board. “I am proud to serve as a board member for the foundation to further the mission of the NFXF to provide unwavering support while relentlessly pursuing a cure.”

Emily Mack

National Fragile X Foundation
NFXF Board President

Emily and her husband, Greg, are the proud parents of their blended family of five kids. They were introduced to Fragile X in February 2011 after their son was diagnosed at two years old. They feel fortunate to work with Dr. Craig Erickson at the Cincinnati FX clinic and have participated in several research studies.
Emily has worked in corporate wellness as an exercise physiologist and wellness coach for over 25 years at a large hospital system, on-site worksite wellness programs, and in private practice. She is driven by the desire to ensure that the NFXF continues to play an integral role in the lives of families, educate our communities, and facilitate research. She has been a member of the NFXF Board of Directors since 2015 and currently serves as board president.

Amie Milunovich

National Fragile X Foundation
FORWARD National Coordinator

Amie joined the NFXF in 2015. Before that, she had eight years of experience coordinating clinical research trials. Amie was a research assistant and research coordinator for numerous clinical trials at several programs. Amie holds a bachelor’s degree in Family and Consumer Science and is a SOCRA Certified Clinical Research Professional. She enjoys Bikram Yoga, painting, cooking, and spending time with family and friends.

Missy Zolecki

National Fragile X Foundation
Director, Community Empowerment

Missy has been an active volunteer since 2010, accepted the Central Regional Leader role in 2013, and joined the NFXF staff in November 2018. Missy has organized several fundraisers and educational workshops while working closely with the Fragile X clinic at Rush University over the years. She speaks to educators, professionals, and service organizations about Fragile X and has presented at past International Fragile X Conferences. Missy is the mother of three children. Her eldest son, Matt, lives with Fragile X syndrome. Before joining the NFXF team, Missy had worked as a nurse for more than 20 years.

Randi J. Hagerman, MD

MIND Institute at UC Davis, Fragile X Research and Treatment Center
Medical Director

Dr. Hagerman is a developmental and behavioral pediatrician who has worked in the Fragile X field for over 30 years on both FXS and premutation disorders. She is at the MIND Institute at UC Davis where she holds an Endowed Chair in Fragile X Research and she runs the Clinical Trials Program and is the medical director of the MIND Institute. She has published over 400 articles related to Fragile X and related disorders. In the spirit of mentorship and collaboration, the NFXF Summer Scholar Program proudly bears Dr. Hagerman’s name and is now the Randi J. Hagerman Summer Scholars Research Award.

David Hessl, PhD

MIND Institute UC Davis
Professor

Dr. Hessl is a professor in the Department of Psychiatry and a faculty member of the MIND Institute at the University of California, Davis since 2002. He is the head psychologist of the Fragile X Research and Treatment Center, and he directs the Translational Psychophysiology and Assessment Laboratory (T-PAL), which is primarily devoted to the development of novel outcome measures (behavioral, cognitive, eye-tracking, ERP, peripheral nervous system) for use in clinical trials for individuals with neurodevelopmental disorders.

Dr. Hessl’s research for the past two decades has focused on the neuropsychological and psychophysiological assessment and treatment of individuals with neurodevelopmental disorders, with a primary focus on fragile X-associated disorders, autism, and Down syndrome. He serves on the Scientific and Clinical Advisory Board and the Clinical Trials Committee of the National Fragile X Foundation (NFXF), has been instrumental in the selection and validation of key clinical outcome measures for fragile X targeted treatment studies, and has contributed to the delineation of NIH research priorities for fragile X-associated disorders. Currently, he is the primary investigator of an NICHD-funded project, “A Cognitive Test Battery for Intellectual Disabilities,” which aims to validate and make adjustments where necessary, the NIH Toolbox Cognition Battery (NIHTB-CB) for people with intellectual disabilities. His lab has been instrumental in improving methods for sensitively measuring IQ in low-functioning individuals, with methods applied to some of the most widely used IQ or developmental tests (Wechsler Scales, Stanford Binet, Mullen Scales). Dr. Hessl is the primary investigator (with Susan Rivera) of a program of research (NINDS R01 “Trajectories and Markers of Neurodegeneration in Fragile X Premutation Carriers”) focused on neuropsychological and neurological changes in adult carriers of the fragile X premutation who are at risk for neurodegeneration in the form of Fragile X-associated tremor ataxia syndrome. One of Dr. Hessl’s newest efforts is his leadership of the International Fragile X Premutation Registry in collaboration with the NFXF.