The National Fragile X Foundation is very fortunate to have so many dedicated professionals and families who work to promote research and provide support for families and individuals living with Fragile X. At each conference, we take the opportunity to publicly acknowledge these tireless individuals who make our work possible. Congratulations all, and thank you for all that you do for the NFXF and the FX Community!
Click each award below to read about our outstanding recipients.
Community Support Network Award
This award was created in 2002 (originally the Education and Awareness Award) to acknowledge those individuals who help the NFXF spread the word about Fragile X, educate families and professionals about the importance of testing and share the many implications of receiving a Fragile X diagnosis.
Denise Devine is the volunteer leader of the Western Massachusetts CSN. Since 1997, Denise and her family have organized annual family events and wine tasting fundraisers for the NFXF. She also routinely speaks to local medical students and state educational board members about Fragile X. She is very well-respected by her CSN peers and is a tireless advocate, participating in the annual NFXF Advocacy Day, where one of her many responsibilities includes recruiting and training mentors. Denise is also part of the core group that is rolling out the NFXF new program, the STAR Initiative: State Teams for Advocacy Results.
NFXF Research Award
Anne Wheeler, PhD is the Public Health Analyst at RTI International. Anne is a licensed psychologist and a research public health analyst at RTI International. She has more than 15 years of research and clinical experience focusing on individuals with intellectual or developmental disabilities and their families. She is an expert in the assessment of children with disabilities, has led the clinical assessment teams for numerous research projects and has visited more than 100 families of children with FXS to conduct child assessments during home visits. She has published more than 20 articles on Fragile X syndrome, focusing primarily on behavioral and social/emotional development and temperament in young children, family and maternal well-being and mother-child interaction patterns. Her publications have been especially important in providing new information about the experiences and health outcomes of women with the FMR1 premutation and the relationship between autism and Fragile X syndrome. She played a major role on the team that established Our Fragile X World, a survey research registry for families of children with FXS. In addition to her work in Fragile X syndrome, she is an expert in Prader Willi syndrome and coordinates a major clinic for children with Angelman syndrome.
NFXF Clinical Award
This award was created in 1987, in memory of Jarrett Cole, an engaging young man who died at age 18 of a FXS heart-related condition.
Nicole Tartaglia, MD is Medical Director of the Denver Fragile X Clinic at Colorado Children’s Hospital. Nicole is committed to treating FXS throughout the lifespan and devoted to the field. She has a growing clinic and has run all recent clinical trials. She has done work on outcome measures. She is a current Principal Investigator on the FORWARD Component C project funded by the Centers for Disease Control. Her clinic will collect high quality cognitive and developmental testing to characterize the natural history of FXS that will help determine if an intervention had changed the natural history of the disease and to pilot some novel outcome measures.
This award was created in 2004 by Drs. Randi & Paul Hagerman to honor those researchers and clinicians who have focused their efforts on Fragile X-associated tremor ataxia syndrome (FXTAS), Fragile X-associated primary ovarian insufficiency (FXPOI) and other premutation issues.
Karen Usdin, PhD is a Senior Investigator at the National Institutes of Health: Chief of the section on Gene Structure and Disease. Karen’s group is studying the causes and consequences of expansion of the CGG•CCG-repeat tract in the FMR1 gene at the molecular and cellular level. Some of her group’s early work focused on the unusual DNA and RNA structures formed by the repeat. These structures are of interest since they may be responsible for the repeat expansion itself. Such structures may also be important in determining how the increase in repeat number causes disease symptoms. More recently her group has developed a mouse model for the Fragile X premutation. They are currently studying these mice in an effort to understand the molecular basis of the underlying mutation that gives rise to the Fragile X-related disorders, as well as the etiology of FXTAS and FXPOI. As part of the efforts to understand the basis of FXS, her group has identified some of the factors they think are critical for switching the FMR1 gene off in this disorder. They hope that this work may make it possible to find drugs suitable for use in humans that can switch the gene back on. More recently her group has demonstrated that FX premutation mice show an ovarian phenotype that may be helpful in understanding FXPOI.
Dr. Usdin is a member of the scientific advisory board of the National Fragile X Foundation. She also co-edited a technical book, with Dr. Mickey Fry, on the Repeat Expansion Diseases, the group of diseases which includes the FX-associated disorders, that was published by Springer-Verlag.
Al and Melissa Blount Lifetime Achievement Award
This award is named after these long-time, generous donors of the NFXF, whose contributions have enabled our continued growth and success. The NFXF is grateful for their ongoing commitment.
Steve and Shirley Kauffman, supporters of the NFXF since 2005, are committed to FXTAS research. In 2015, they provided the funding to initiate the work of the FXTAS Task Force to efficiently translate pre-clinical therapies into studies, enhance preclinical treatment for affected individuals, develop appropriate clinical measures that can inform researchers, provide resources to community doctors and to ultimately, shorten the time to a cure.
Ave Lachiewicz, MD has been a board certified developmental-behavioral pediatrician in the pediatrics department at Duke University Medical Center. Ave and her colleagues started the Duke Fragile X Clinic in approximately 1989. This clinic has had support from numerous civic groups in North Carolina and, more recently, from a dedicated group of North Carolina parents of children with Fragile X syndrome. The Duke Fragile X Clinic is part of the Fragile X Clinical and Research Consortium. Dr. Lachiewicz is a member of the National Fragile X Foundation’s Scientific and Clinical Advisory Committee. The Duke Fragile X Clinic has been involved with three clinical trials.