Hope isn't a feeling —

it's a strategy.

Thanks to your generosity, research is ongoing.
And a cure is within reach.

Updated: June 2, 2026

Our Science

Research that
changes everything

We fund and coordinate research initiatives targeting the root cause of SMA-PME and Farber disease.

Gene Therapy Initiative

Our primary research focus is the development of a stem-cell–based gene therapy for acid ceramidase deficiencies — a "one-and-done" genetic correction targeting the ASAH1 gene directly. Dr. Michelle Allen-Sharpley (Cedars-Sinai) and Dr. Jeffrey Medin (Medical College of Wisconsin) are working in tandem to restore acid ceramidase production at its molecular source.

Active Research Program

Additional Research Tracks

•
ERT + Blood-Brain Barrier
JCR Pharmaceuticals, Kobe (Japan) — J-Cargo complex® patented mechanism crossing the blood-brain barrier
•
Gene Modified Cell Therapy (GMCT)
US research — reduced ceramide accumulation in all tissues
•
BBB Research
Italy — studying technologies to repurpose existing medications to cross the blood-brain barrier
•
Supportive & Homeopathic Care
Nutrition, acupuncture, CBD — quality of life support alongside primary treatments
4th Global Forum

ACDase Deficiency Global Forum

Save the Date

February 17, 2027

Backup date: February 23, 2027

3rd Global Forum

ACDase Deficiency Global Forum

For Community Alignment

April 28, 2026 · 9 AM – 1 PM US Eastern Time

Please convert all times to your local time zone.

Pre-Forum — 30 Min Prior

9:00 AM Meet & Greet the Participants (Optional)
9:15 AM Sound checks · Ground rules Q&A · Real-time translation setup (non-English speakers please attend)

Forum Agenda

9:30 AM

Overview & Objectives

SMA-PME Research & The Fight Farber Foundation — Ms. Mary Irwin, Dr. Reem Eissa (confirmed)

9:45 AM

A Clinician's View of SMA-PME: Adeline as a Case Study

Dr. Nicole Chemaly (confirmed)

10:15 AM

AAV.CPP.16-based ASAH1 Gene Supplementation

Dr. Fengfeng Bei et al (confirmed)

10:45 AM

High Content Phenotype Screening for Drug Repurposing in Farber Disease

Dr. Diego Medina et al (confirmed)

11:15 AM — BREAK — (10 min)
11:25 AM

Strategies of Overcoming the Blood Brain Barrier

Dr. Mathias Schmidt (confirmed)

11:55 AM

Lentivirus Mediated Gene Therapy for the Treatment of Acid Ceramidase Deficiencies

Dr. Michelle Allen-Sharpley (confirmed)

12:25 PM

Wrap Up & Date of Next Forum

Ms. Mary Irwin et al — All bring calendars

12:40 PM Social Time / Fellowship
1:00 PM End — Total: 4 hours
Download Full Agenda PDF
Forum Rules

3rd ACDase Global Forum — Ground Rules

Download Full PDF