The 2022 NFXF Awards are in! Learn more about each award — Community Support Network, Research, Clinical, Hagerman, and the Al and Melissa Blount Lifetime Achievement awards — and each of our awardees.
Community Support Network Awardees
The Community Support Network awards honor significant contributions to awareness and support of the Fragile X community.
Kara Frech, Chapter Leader, NFXF Southeast Pennsylvania Chapter
Kara Frech has served as chapter leader of the NFXF Southeast Pennsylvania Chapter since 2012. Kara organizes numerous community events like X-Strides, educational sessions, and “Parent’s Night Out” and “Mom’s Night Out” social events. Kara helps connect families to local resources, including the nearby FXCRC clinics. She is also a veteran advocate having attended 10 NFXF Advocacy Day events.
Kara and her husband, Steve, are parents to two sons living with Fragile X syndrome.
Thank you, Kara, for bringing awareness to and supporting the Fragile X community!
Fragile X Association of Southern California (FRAXSoCal)
FRAXSoCal is an active community partner serving the Southern California area. Led by FRAXSoCal president Jennifer Newsome and the FRAXSoCal board members, FRAXSoCal hosts monthly virtual support group meetings, educational events, “Family Fun Days,” and recently hosted their “9th Annual 5k for Fragile X.”
FRAXSoCal are leaders in advocacy efforts locally and nationally as well as being a resource and partner with their local FXCRC clinics.
Thank you, FRAXSoCal, for raising awareness supporting the Fragile X community!
NFXF Research Awardees
The NFXF Research Award honors outstanding contributions to our understanding of Fragile X.
Dr. Marsha Mailick, Professor and Emeritus Vice Chancellor for Research and Graduate Education, University of Wisconsin-Madison
Dr. Marsha Mailick’s research is on the life course trajectory of developmental disabilities, including Fragile X syndrome and the premutation.
Most recently she and her team are using novel approaches like machine learning to examine large amounts of data — data that would be impossible to review without the efficiency of machine learning — to better understand health effects of Fragile X. This work is important in understanding additional health risks that may be associated with Fragile X and potentially shortening the diagnostic odyssey for individuals who are not diagnosed within the 3- to 5-year-old age range.
To learn more, see AI–Assisted Phenotype Discovery of FXS and The Behavioral and Health Phenotype.
Thank you Dr. Mailick for your outstanding contributions to our understanding of Fragile X!
Dr. Peng Jin, Professor and Chair in the Department of Human Genetics, Emory University School of Medicine
Dr. Peng Jin is interested in the roles of noncoding RNAs and epigenetic modulation in neural development and brain disorders.
Dr. Jin leads Emory’s NIH-funded Fragile X Center of Excellence. Along with several esteemed colleagues, Dr. Jin published on their Fragile X syndrome forebrain organoids (see A Human Forebrain Organoid Model) created by patient-derived induced pluripotent stem cells (iPSCs). This forebrain organoid model matches molecular and pharmacological aspects of Fragile X syndrome more closely than mouse versions. Because the Fragile X syndrome brain organoid seems to be sensitive and better mimics a human with Fragile X syndrome, this model could better find and evaluate new treatments.
This is an exciting advancement for the Fragile X field. Thank you, Dr. Jin, for your outstanding contributions to our understanding of Fragile X!
NFXF Clinical Awardees
The NFXF Clinical Awards honor dedicated clinical service to families in the Fragile X community.
Dr. Carol Delahunty, Developmental & Behavioral Pediatrician
Carol Delahunty, MD, is an original member of the Fragile X Clinical & Research Consortium (FXCRC), formed in 2006, and has been serving the Ohio Fragile X community for many years prior.
Dr. Delahunty has more than 30 years’ experience as a developmental and behavioral pediatrician. As knowledge about and treatment for Fragile X has. grown, Dr. Delahunty is one of the early group of doctors who chose to include Fragile X syndrome as one of their specialties. She has been a regular attendee at the biennial NFXF International Fragile X Conference and an active participant in the FXCRC.
Thank you Dr. Delahunty for your dedication, your sustained interest in Fragile X, and your many years of kind, compassionate and — most importantly — effective service to the Fragile X community!
Barbara Haas-Givler, Director, Fragile X Clinic and Education and Behavioral Outreach, Geisinger Autism & Developmental Medicine Institute
Barbara Haas-Givler, M.Ed., BCBA, has been a long-time member of the Fragile X community. Her dedication to providing families living with Fragile X strategies for success has made a huge impact over the years. Barb is also a member of the NFXF Clinical Trials Committee.
Thank you Barb for your passionate, dedicated clinical service to families in the Fragile X community!
The Hagerman Award honors groundbreaking research on Fragile X-associated conditions and disorders.
Dr. David Hessl, Professor, T-PAL Director, UC Davis MIND Institute
Dr. David Hessl directs T-PAL, the Translational Psychophysiology and Assessment Laboratory, which investigates the emotional psychophysiology of children with neurodevelopmental disorders and develops novel outcome measures for clinical trials.
Dr. Hessl also conducts collaborative studies with other researchers investigating brain imaging, molecular genetics, and neuropsychology to understand links between genetics, brain function, and behavior. His research focus is primarily on Fragile X-associated conditions and disorders, such as Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome (FXTAS).
Dr. Hessl is the leader of the International Fragile X Premutation Registry, a collaborative, global effort across institutions and the NFXF. This registry is essential to the progress of research and treatment of the Fragile X premutation. Dr. Hessl is the principal investigator for the Longitudinal Study of Brain and Cognition in Fragile X Premutation Carriers (TRAX) study.
To learn more, see research results for Neuropsychological Changes in FMR1 Premutation Carriers and Onset of FXTAS and The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness.
Thank you. Dr. Hessl for your groundbreaking research on Fragile X-associated conditions and disorders!
Al and Melissa Blount Lifetime Achievement Awardees
The Al and Melissa Blount Lifetime Achievement Award honors sustained and generous support of the NFXF and the Fragile X community.
Gail Harris-Schmidt & Steve Schmidt
Gail Harris-Schmidt and Steve Schmidt are longtime supporters of the NFXF. Their generous contributions propel the NFXF’s efforts forward across our strategic priorities, including providing education, promoting advocacy, advancing research, and improving treatment.
Gail and Steve have two children. Their adult son, David, lives with Fragile X syndrome. Gail served as a volunteer for the Fragile X Resource Group of Chicago and continued as a mentor as the NFXF Community Support Network grew. She has also served as a long-standing member and contributor to the NFXF Scientific & Clinical Advisory Committee.
Thank you Gail and Steve for your sustained and generous support of the NFXF and the Fragile X community!
Zynerba Shares their RECONNECT trial
Zynerba presented about their prior results and their current RECONNECT during the 2022 Industry Updates keynote session at the 18th International Fragile X Conference.
Healx Shares their IMPACT-FXS trial
Healx Ltd presented about the IMPACT-FXS trial during the 2022 Industry Updates keynote session at the 18th International Fragile X Conference.