APBD Research Foundation

APBD Research Foundation Contact information, map and directions, contact form, opening hours, services, ratings, photos, videos and announcements from APBD Research Foundation, Medical Research Center, 2257 East 63rd Street, Brooklyn, NY.

Founded in 2005, the APBD Research Foundation is the only nonprofit organization dedicated to finding a cure for APBD, while improving the lives of those impacted.

Thanks Natacha for sharing your why!
12/20/2025


Thanks Natacha for sharing your why!

DID YOU KNOW? 34,000 people worldwide could have GBE1-related diseases.Researchers at the Rare Genomes Project of the Br...
12/19/2025

DID YOU KNOW? 34,000 people worldwide could have GBE1-related diseases.

Researchers at the Rare Genomes Project of the Broad Institute of MIT and Harvard have updated the global genetic prevalence estimate of people affected by diseases resulting from changes on the GBE1 gene, including APBD and early-onset Glycogen Storage Disease Type IV. The number has changed from 1 in 325,000 people (reported in 2022) to 1 in 236,000.

Read the preprint here: www.medrxiv.org/content/10.64898/2025.12.16.25342386v1

We're so thankful to the Rare Genomes Project team, the Chan Zuckerberg Initiative (now known as Biohub) team, and our academic research partners for supporting this important research.

Understanding of GBE1-related diseases prevalence is critical to ascertaining the global burden of these diseases and improving the care of individuals and families impacted. Furthermore, it supports drug development efforts and informs public health policies.

Our thanks to the following:
- Sam Baxter, MS, LGC and Moriel Singer-Berk, MS (Rare Genomes Project at the Broad Institute of MIT and Harvard)
- Orhan Akman, PhD
- Rebecca Koch, PhD, RDN (Duke University)
- Qing Lu, PhD (University of Florida)
- Jennifer Orthmann-Murphy, MD, PhD (University of Pennsylvania)

Did you know that January is "National Hobby Month?" From reading to dog training to writing a book, and working on puzz...
12/19/2025

Did you know that January is "National Hobby Month?" From reading to dog training to writing a book, and working on puzzles...and more, we all have a few of them. What's yours?

🧬 | In case you missed it—check out our Q&A with Dr. Amy Williford of the N-Lorem Foundation, highlighting their groun...
12/18/2025

🧬 | In case you missed it—check out our Q&A with Dr. Amy Williford of the N-Lorem Foundation, highlighting their groundbreaking work to develop treatments for the rarest of the rare.

For nano-rare APBD patients with the deep intronic variant, the n-Lorem Foundation’s personalized A*O therapies are offering new possibilities—and much-needed hope. 💙

đź”— Read the full conversation here: https://loom.ly/HEUGYFQ

12/17/2025

LD’s story is why we fight.

When Susan’s husband LD was diagnosed with APBD after being misdiagnosed with MS, their family searched for answers, support, and hope. Together, they joined the APBD Research Foundation to push research forward for every family facing this disease.

Even as treatment development progressed, time wasn’t on LD’s side. But he lived to celebrate precious moments such as the 2016 Million Dollar Bike Ride at his alma mater UPenn and meeting their second grandchild just days before LD passed away.

Today, Susan continues her work on our Board to honor LD’s legacy and support the 34,000+ individuals around the world living with APBD and allied diseases.

As you watch Susan's story, we invite you to reflect on your “why” and join us in making treatments a reality. 💙

👉 Make your year-end gift of impact here: https://loom.ly/en-gK_A

Did You Know? The APBD Research Foundation and the Association for Glycogen Storage Disease developed the first-ever “Di...
12/17/2025

Did You Know? The APBD Research Foundation and the Association for Glycogen Storage Disease developed the first-ever “Diagnosis and Management of Glycogen Storage Disease Type IV, Including APBD" clinical practice guideline that was published in the scientific journal, Molecular Genetics and Metabolism.

Read more: https://loom.ly/yPlQiaA

The Guideline serves as a tool for health professionals and individuals impacted by APBD and related GSD IV diseases. It aims to facilitate more prompt and accurate diagnoses and optimized care.


AIGlico - Associazione Italiana Glicogenosi
SAGSD - Scandinavian Association for Glycogen Storage Disease
Metabolic Support UK Glykogenose Deutschland e.V.
Glucolatino - Glucogenosis Hepáticas Association Francophone des Glycogénoses AGSD - UK

⏳ Just 15 days left in our Year-End Giving Campaign!Now is the time to make a meaningful impact. Join us in supporting t...
12/16/2025

⏳ Just 15 days left in our Year-End Giving Campaign!

Now is the time to make a meaningful impact. Join us in supporting the APBD Research Foundation as we work to advance research, strengthen patient and family programs, and move closer to treatments for APBD.

Every gift—no matter the size—helps drive progress and bring hope to our community. 💙

Donate 👉 https://loom.ly/en-gK_A

Do you ever feel like you're tackling APBD alone? Our monthly Patient Chats connect our community members, offer peer su...
12/16/2025

Do you ever feel like you're tackling APBD alone? Our monthly Patient Chats connect our community members, offer peer support, and deepen the understanding of how APBD impacts lives.

Join us this Wednesday, Dec. 17th at 9am PT | Noon ET. To learn more and register for this event, email Harriet at harriet@apbdrf.org.

12/15/2025

Ce reportage donne la parole à 4 enfants touchés par la maladie : Erwan et Morgan, 10 ans (Amaurose de Leber), Marius, 5 ans (Glycogénose de type 4), Gabin, ...

💙 “Do what you can, while you can. Don’t wait.”In a heartfelt article, Jeff Cooper reflects on his life once filled with...
12/15/2025

💙 “Do what you can, while you can. Don’t wait.”

In a heartfelt article, Jeff Cooper reflects on his life once filled with teaching, music, and running — and how it changed when mysterious symptoms appeared. What began as vision issues and tingling in his feet led to a diagnosis of multiple sclerosis (MS). But years of treatments and uncertainty later, genetic testing finally revealed the truth: Adult Polyglucosan Body Disease (APBD).

Jeff’s journey highlights the perseverance it takes to live with a rare condition — and the hope, patience, and purpose that can emerge even through challenge.

đź“– Read his inspiring story here: https://loom.ly/_CPOgCY

12/14/2025

To all of our celebrating community members and their families, we wish you a Hanukkah filled with love and light.

Happening Today! National Organization for Rare Disorders, Inc. (NORD) is hosting a webinar on "Going Mobile with the Li...
12/11/2025

Happening Today! National Organization for Rare Disorders, Inc. (NORD) is hosting a webinar on "Going Mobile with the Living Rare Study" on Dec. 11, 4pm ET. To register, visit https://rarediseases.zoom.us/webinar/register/WN_pFqK0h69R9e_JYq24aA7GA #/registration.

While rare diseases impact millions, there is very little recognition of the severity of the public health impacts that they generate. Why is that? Because relatively little data has been developed to document the extraordinary breadth of the impacts.

The NORD is addressing this information gap with the launch of the Living Rare Study. We need you and everyone in the GSD IV community to participate. Together, we're helping fuel improvements in policy, healthcare, and resources for all rare disease community members.

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2257 East 63rd Street
Brooklyn, NY
11234

Telephone

+16465805610

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