Announcing Our 2022 NFXF Awardees

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!

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!

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!

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!

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!