Anna De Sonia, Author at National Fragile X Foundation

NFXF Webinar Series: Gene Therapy & the FXS Community: A Review of Community Surveys

By Anna De Sonia|2025-01-03T14:46:33-05:00Jan 2, 2025|Research, Results, Webinar|

In December 2024, the NFXF put on a webinar discussing gene therapy and the perspectives from those in the FX community. During this webinar, expert Dr. David Hampson laid the groundwork of understanding what gene therapy is, followed by three different groups - The Patrick Wild Centre, Mt. Siani Hospital, and the NFXF - presenting on their community surveys, which all aimed to understand the perspectives on gene therapy from the Fragile X community.

NFXF Belonging Project

By Anna De Sonia|2025-01-08T13:30:32-05:00Dec 20, 2024|Blog|

The Belonging Project, one of our newest initiatives, aims to intentionally extend our reach to underserved and underrepresented communities across the United States. Hear from each of the three Fragile X clinics and our own in-house belonging survey, on how we’ve begun work to understand the challenges to diagnosis, treatment, and feeling a sense of community belonging faced by Black, Hispanic, and Native American groups and the providers who serve them.

Gene therapy simplified: what is it and how does it work?

By Anna De Sonia|2024-12-11T13:00:50-05:00Dec 11, 2024|Blog|

Gene therapies are being developed at a rapid rate. Although there are currently no FDA-approved or interventional gene therapies for FXS, the future has never looked brighter for treating the root cause of FXS!

Study: Somatic symptom development in 6-12 year old females with an FMR1 mutation (SoS Study)

By Anna De Sonia|2024-11-20T09:59:04-05:00Nov 8, 2024|Opportunities for Families|

Researchers at the New York State Institute for Basic Research are conducting a study to better understand the development of physical (somatic) symptoms in females living with and without an FMR1 gene variation.

You Spoke, We Listened: The Completely At Home RECONNECT Clinical Trial –Participate in Research Without the Stress of Traveling

By Anna De Sonia|2025-01-22T11:23:30-05:00Oct 31, 2024|Blog|

You Spoke, We Listened: The Completely At Home RECONNECT Clinical Trial –Participate in Research Without the Stress of Traveling

FXS TECH Study

By Anna De Sonia|2024-10-21T21:55:27-04:00Oct 21, 2024|Opportunities for Families|

Researchers at Rush University Medical Center are working on technology to improve how to identify and track progress in children living with autism and Fragile X syndrome. The study is currently recruiting children ages 18 months to 5 years, and 12-18 years.

The Dos & Don’ts of Participating in a Clinical Trial

By Anna De Sonia|2024-10-28T09:43:13-04:00Oct 15, 2024|Blog|

We live in a day and age of social sharing, and that is not going anywhere. However, when we participate in a clinical trial, we have to understand that we cannot share everything in order to protect the integrity of the trial.

Study: Web Intervention for Parents of Youth with Genetic Syndromes (WINGS)

By Anna De Sonia|2024-10-14T17:28:59-04:00Oct 14, 2024|Opportunities for Families|

Researchers at the Autism Assessment, Research, Treatment & Services (AARTS) Center at Rush University Medical Center are currently conducting a fully-virtual research study that is testing two telehealth interventions that are designed to help parents of children with genetic syndromes and intellectual disabilities gain strategies to manage challenging behaviors.

Neural Underpinnings of the Relationship Between Cognition and Gait Dysfunction in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

By Anna De Sonia|2024-10-10T12:51:41-04:00Oct 10, 2024|Opportunities for Families|

Movement disorders researchers at Rush University Medical Center are conducting a research study to learn about brain activation in people living with FXTAS during tasks like walking and thinking. This study is currently recruiting adults ages 50+ who are living with FXTAS.

The 2024 RJH Summer Scholar Presentations Are Now Live!

By Anna De Sonia|2024-09-25T16:48:39-04:00Sep 25, 2024|Blog, Research|

We asked our 2024 NFXF-funded Randi J Hagerman Summer Scholars to summarize their summer project in a 15-minute video presentation, and here they are!

Pharmacogenomics and the Fragile X Community: Interest and Prior Understanding

By Anna De Sonia|2024-09-20T11:01:45-04:00Sep 20, 2024|Opportunities for Families|

Researchers at the University of Alabama are looking for members of the FX community to take their online survey so they can explore the knowledge & opinions of the FXS community on pharmacogenomic testing.

Lunch & Learn Series: “Mosaicism Type and Cognitive & Behavioral Functioning Among Males with FXS” and “Sleep Problems in FXS: Cross-Sectional Analysis of a Large Cohort”

By Anna De Sonia|2024-09-25T13:14:24-04:00Sep 16, 2024|Research, Results, Webinar|

Dr. Elizabeth Berry-Kravis and Dr. Walter Kaufmann joined us for a 45-minute webinar where they presented on two of the "top 10 most-cited articles" in the American Journal of Medical Genetics Part A. Presentations were then followed by a moderated Q&A.

Panel Discussion — Gene Therapy

By Anna De Sonia|2024-09-04T14:10:15-04:00Sep 4, 2024|International Fragile X Conference, Research|

As gene therapies continue to enter rare disease and Fragile X spaces, we know that our community has become increasingly curious about what this means for Fragile X. At the 19th NFXF International Fragile X Conference, experts shared their thoughts on gene therapies and their future in the Fragile X world.

Brain & Behavior Study

By Anna De Sonia|2024-09-24T10:26:11-04:00Aug 28, 2024|Opportunities for Families|

Researchers at Purdue University are conducting a natural history research study to learn about brain activity in females, ages18-60 years, living with the FMR1 premutation.

2024 Industry Updates — Presentation

By Anna De Sonia|2024-08-25T17:51:34-04:00Aug 12, 2024|International Fragile X Conference, Research|

Three of our industry partners working on treatments for Fragile X syndrome (FXS) presented updates on their research at the 19th NFXF International Fragile X Conference on July 27, 2024. Presenters included representatives from Tetra Therapeutics, Harmony Biosciences, and Spinogenix.

About Anna De Sonia