Our 2024 NFXF Awardees

Sibling and Self-Advocate Network

The Sibling and Self-Advocate Network is one of the most active groups associated with the NFXF! This group has hosted over 60 virtual meet ups since 2020, bringing together siblings and self-advocates from all over the nation. Dillion Kelley, Kelley Dunphy, and Diane Southard lead this group, ensuring everyone feels included and has a good time!

Thank you, Sibling and Self-Advocate Network, for bringing awareness to and supporting the Fragile X community!

Dr. Joel Richter lab, University of Massachusetts Chan Medical School

Dr. Joel Richter and team made recent discoveries that lead to exciting advancements for the Fragile X syndrome genomic therapy space. In their 2023 publication, “Antisense oligonucleotide rescue of CGG expansion–dependentFMR1 mis-splicing in fragile X syndrome restores FMRP“, the researchers summarized these important findings. In short, this study revealed a variety of important results that support the value of ASO therapy for FXS, specifically the intriguing possibility that ASO treatment may have the ability to restore FMRP levels by targeting FMR1 RNA.

You can read a summary of this important work here: Antisense Oligonucleotide Rescue of CGG Expansion–Dependent FMR1 Mis-Splicing in Fragile X Syndrome Restores FMRP | NFXF

This is an exciting advancement for the Fragile X field. Thank you, Dr. Richter, Dr. Shah, and team, for your outstanding contributions to our understanding of Fragile X!

Dejan Budimirovic, MD

Dr. Budimirovic is the medical director of the Fragile X Clinic at Kennedy Krieger Institute. He is an active member of the NFXF’s Fragile X Clinical and Research Consortium and its Clinical and Clinical Trials Committees and has been a regular attendee at the biennial NFXF International Fragile X Conference. Dr. Budimirovic has published many papers about Fragile X, and served as a coauthor on numerous others. He is known for his many international collaborations, including with Dr. Dragana Protic in Serbia, whom he helped bring into the Fragile X fold many years ago. Dr. Budimirovic’s patients lovingly refer to him as “Dr. B” and say how helpful he has been to their loved ones.

Dragana Protic, MD, Ph.D.

Dr. Dragana Protic is an associate professor at the Department of Pharmacology, Clinical Pharmacology and Toxicology, School of the Medicine University of Belgrade, Belgrade, Serbia. After spending time with Dr. Randi Hagerman at the UC Davis MIND Institute, Dr. Protic returned to Serbia, launched a Fragile X clinic, and organized the first-ever Fragile X conference in the Balkans area of Europe. As well as seeing patients clinically, Dr. Protic leads research related to Fragile X-associated conditions in Serbia and South-Eastern Europe. Dr. Protic advocates for her patients and played a leading role in establishing a Fragile X patient advocacy organization in her part of the world. She also collaborates with many Fragile X experts around the world, including Dr. Budimirovic.

Thank you Drs. Budimirovic and Protic, 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!

Debra Reisinger, Pediatric Psychologist, Division of Behavioral Medicine and Clinical Psychology

Debra Reisinger, PhD, is a clinical psychologist specializing in diagnostic consultation, psychological evaluation, and individual and group treatment services. Dr. Reisinger has offered psychological care to individuals living with Fragile X syndrome around the nation through the use of PsyPACT, which has been incredibly impactful!

Thank you, Debra, for your passionate, dedicated clinical service to families in the Fragile X community!

Emily Allen, PhD, Professor, Assistant Professor, Emory University

Emily Allen, PhD, has worked on studies of Fragile X-associated conditions at Emory University with since the early 2000s. Her primary research focus has been on disorders and characteristics associated with the Fragile X premutation, including Fragile X-associated primary ovarian insufficiency (FXPOI) and Fragile X-associated tremor/ataxia syndrome (FXTAS).

Dr. Allen has served as a mentor for several Randi J. Hagerman Summer Scholars and shared their work focused on using qualitative interviews to better understand the healthcare experiences of women with a premutation.

Thank you. Dr. Allen, for your groundbreaking research on Fragile X-associated conditions!

Jay, Anne, and Alec Souder

Jay, Anne, and Alec have been long-time supporters of the NFXF. Anne found the NFXF early in her search for support, and as the years went on, their family became more involved with the NFXF. Jay joined the NFXF Board of Directors in 2013 and served as Board President from 2018 to 2020. Jay remains an Ambassador to the NFXF Board. Jay and Anne have hosted an annual golf event since 2018 they call “FORE! Fragile X” in honor of their son, Alec, who has Fragile X syndrome. Their event has now raised over $250,000 to support the NFXF and their generous contributions propel our efforts forward across our strategic priorities.

The Souder family has been integral to the NFXF, continually inspiring more support and content for adults living with Fragile X.

Thank you, Jay, Anne, and Alec, for your sustained and generous support of the NFXF and the Fragile X community!

Ave Lachiewicz, Developmental and Behavioral Pediatrician

Dr. Ave Lachiewicz is a board certified developmental-behavioral pediatrician and worked at Duke University Medical Center for over 30 years. She has participated in numerous projects involving individuals with Fragile X syndrome and served as the medical director of the Duke Fragile X Clinic for many years. Dr. Lachiewicz was an early and active member of the NFXF’s Fragile X Clinical and Research Consortium and was instrumental in writing and/or reviewing numerous family-friendly Treatment Recommendations. She has also been a regular participant and speaker at the biennial NFXF International Fragile X Conference. Dr. Lachiewicz is fondly admired by the many families she has served over the years.

Thank you, Dr. Lachiewicz, for your lifetime of service to the Fragile X community!

Jean Frazier, Child and Adolescent Psychiatrist

Dr. Jean Frazier is board certified in Psychiatry and Child and Adolescent Psychiatry and is Professor of Psychiatry and Pediatrics at the University of Massachusetts Medical School. Dr. Frazier is the founder of the UMMS/UMMHC Center for Autism and Neurodevelopmental Disorders (CANDO), which includes The Fragile X Behavioral Health Clinic. Dr. Frazier sees patients of all ages and has over 30 years of clinical experience and clinical research experience. Dr. Frazier was an active member of the NFXF’s Fragile X Clinical and Research Consortium and Clinical and the Clinical Trials Committee.

Thank you, Dr. Frazier, for your lifetime of service to the Fragile X community!