In Loving Memory: The APBD Research Foundation Mourns the Passing of Co-Founder Michael Weiss

The APBD Research Foundation is deeply saddened to share that our co-founder, Michael Weiss, passed away on September 6, 2025, due to complications from APBD.

In 2005, Michael and his brothers, Gregory (who passed in 2018) and Emil, created the APBD Research Foundation after all three were diagnosed with this very rare disease. They saw that there were almost no resources or support available, so they dedicated themselves to pushing forward research, working toward treatments, and helping patients and families affected by APBD.

Outside of his work with the Foundation, Michael was admired as a businessman and, more importantly, as a loving husband, father, and grandfather. He often spoke about his four grandchildren, calling them his “four diamonds,” a reflection of the deep love he had for them. His kindness, generosity, and commitment to others made a lasting impression on everyone who knew him.



We extend our heartfelt thoughts and support to Michael’s family and friends during this difficult time.

Research Highlight: Gene-targeted Therapy -- Anti-Sense Oligonucleotides -- Corrects Intronic Variant and Restores GBE Enzyme Activity in Patients’ Cells

Exciting progress is being made toward a new treatment for a subset of APBD patients who have the deep intronic mutation, thanks to researchers at the n-Lorem Foundation, Columbia University, and University of Washington. Scientists recently published a study showing that special molecules called anti-sense oligonucleotides (ASOs) can help fix a genetic problem in patient cells, potentially restoring important enzyme activity that is lost in APBD.

The research focused on a specific mutation in the GBE1 gene, called a deep intronic mutation. This mutation was first discovered in 2015 by H. Orhan Akman, PhD (Columbia University); it helped explain why some people with only one known GBE1 gene mutation still developed APBD symptoms, a situation called “manifesting heterozygotes.” Instead of affecting the main part of the gene, the intronic mutation was hidden in a part that is usually cut out before the enzyme is made, creating an unstable enzyme along with the other mutation. 



Thanks to these discoveries, scientists were able to develop ASOs that encourage cells to make the normal enzyme again. Experiments showed that these ASOs can boost the levels of the healthy enzyme in patient cells, which gives real hope for future treatment and a better quality of life for patients with the intronic mutation.

Lindsay Gill, PhD, Foundation’s Research Manager, Attends  COMBINEDBrain’s 2025 Clinical Readiness Day and Annual Summit

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There are many challenges for small, scattered rare disease communities like ours. To address some of those challenges, the APBD Research Foundation recently became a member of the Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders (COMBINEDBrain).

COMBINEDBrain has a unique model for centralizing data, centralizing bio-sample storage, and conducting collaborative research – we see great potential in this new relationship.

As part of these efforts, Lindsay Gill, Ph.D., the Foundation’s Research Manager, represented APBD families in Brentwood, Tennessee, during COMBINEDBrain’s 2025 Clinical Readiness Day and Annual Summit. At this two-day event, Dr. Gill was one of only three advocacy leaders chosen to speak on the GeneDx panel, “Using Genetic Data to Grow Your Community.” The Foundation also received a special “Discover Snapshot” report from GeneDx, which shared valuable demographic information collected from U.S. patients with changes in the GBE1 gene, helping to better understand and serve the GSD IV community.

Partnerships like these are vital steps forward, providing new connections, knowledge, and hope for everyone facing rare diseases.

Meet Henry Daumeyer, Our New Genetic Counseling Intern

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We are excited to introduce Henry Daumeyer, the newest member of our team!

Henry is a Genetic Counseling graduate student at Columbia University; he will be interning with us through the current school year, until he graduates in May 2026. He is passionate about helping people and is especially interested in how clinical care, advocacy, education, and science all connect.

During his internship, Henry will help support and survey patients involved in the Foundation’s new Biorepository project. He will also work closely with APBD researchers, building new connections in our community and reaching out to new patients. Additionally, Henry will share stories from patients and caregivers about their experiences for our newsletter and other media.



Please join us in welcoming Henry to the Foundation family!

Robin Knoll Hosts Pampered Chef Fundraiser

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In August, community member Robin Knoll, whose husband Mark has APBD, teamed up with her friend Jill Lerner to host a Pampered Chef fundraiser. Friends, family, and the APBD community “shopped for a cause,” raising $1,200 to support our mission!

Want to Celebrate and Give Back?

From birthdays and weddings to anniversaries, bar/bat mitzvahs, and memorials—milestones are meaningful ways to honor loved ones while advancing APBD research. Every contribution is tax-deductible.

To host any type of fundraiser, contact Anesa Kajtazovic at anesa@apbdrf.org—we’re happy to help!

Foundation Launches Redesigned Website!

We’re excited to announce that the APBD Research Foundation has launched its refreshed and reorganized website, still found at apbdrf.org!

The redesigned website is now easier to use, making it simple for everyone to find the information they need—whether someone is newly diagnosed, a caregiver, a researcher, or a supporter. You’ll find updated resources, details about upcoming events, personal stories from the APBD community, and lots of new ways to get involved in advancing research for APBD.

Take a moment to explore the website and be sure to bookmark it so you can always stay connected: apbdrf.org!

Upcoming Events

The Foundation hosts talks, workshops, and scientific meetings for patients, caregivers, health professionals, and researchers. These programs connect our community members and deepen the understanding of how APBD impacts lives.

Patient Chat

Topic: Why Create Your “Clinical Research ID?”

Guest Speaker: Grace Viggiano | COMBINEDBrain 

Oct. 29, 2025 | 12pm ET | 9am PT

This Chat is hosted by volunteer moderator Harriet Saxe. To learn more or register for this event, email Harriet at harriet@apbdrf.org.

Caregiver / Family Chat

Oct. 9, 2025 | 7:30pm ET | 4:30pm PT

This Chat is hosted by volunteer moderator Linda Cedarbaum. To learn more and register for this event, email Linda at linda@apbdrf.org.

Taking Care of a Loved One with an Estate Plan

We provide this FREE monthly newsletter resource to all of our GSD IV and allied disease community members. This resource is made possible by contributions to the APBD Research Foundation from donors like you. Thank You!