Thank You for Making the 2023 Year-End Giving Campaign our Most Successful One Yet!

Dear Friend,


Our 2023 Year-End Giving Campaign was a roaring success with 129 generous donors joining us and collectively contributing over $295,000. 

Thanks to your support and the one-time gifts of some philanthropic corporations

we greatly exceeded our 2023 year-end goal of $120,000. Your generosity enables us to invest in research, expand programming, and build our team in 2024. We envision making great strides this year and beyond.

Your time, skills, donations, connections, APBD stories, and peer-to-peer campaigns impact our work. We are excited about all that we will make possible, together, in 2024. 


With heartfelt gratitude,


The APBD Research Foundation Team

Research Highlight

Case Report: Expanding the Understanding of the APBD Continuum: Novel Presentations, Diagnostic Pitfalls, and Clinical Pearls

Researchers at Duke University and the University of São Paulo (Brazil) have published an intriguing case report describing the clinical course and diagnostic odyssey of seven individuals with APBD in the scientific journal Frontiers in Genetics.

Read more

Shine Bright on Rare Disease Day: Snag Your Free Sunglasses Now!

We have a plan for Rare Disease Day, February 29, and you need to be part of it!  

Six dozen exclusive sunglasses that represent the day's theme, Show Your Stripes, have been donated to our community by an anonymous supporter. Upon request, we will ship the fashion statement to you, provided you agree to supply a selfie that may be used in our foundation's awareness campaign.  

This unique opportunity is extended on a first come, first served basis to all APBD patients, their family members and friends, researchers, and clinicians.

Quick! Email to request your sunglasses. Note that selfies are due by February 20.

Meet Matthew Morgan, Our New Genetic Counseling Intern!

We are delighted to introduce Matthew Morgan, the newest addition to our team. Matthew is a genetic counseling graduate student at Long Island University in New York. His commitment to the field stems from his desire to comprehensively support patients and families as they navigate a new world that involves genetic testing and, potentially, genetic disorders

Matthew brings a wealth of experience gained from prior roles supporting various rare disease organizations. During his internship, he will work with our academic partners to publish the findings of a recently completed global prevalence research study. He will also work with patients and family members as they share stories describing their APBD journey. Welcome Matthew!

Upcoming Events

From Chat events to workshops and scientific symposiums, the Foundation hosts programs for patients, caregivers, and health professionals which connect our community members and deepen the understanding of how APBD impacts lives.

These events offer peer support, opportunities to hear from health experts and Foundation leaders, and the chance to raise funds for APBD research.

Caregiver / Family Chat

Feb. 8, 2024, 7:30pm ET | 4:30pm PT

Mar. 14, 2024 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

Patient Chat

Feb. 28, 2024, 8pm ET | 5pm PT

Mar. 27, 2024, 8pm ET | 5pm PT

This Chat is hosted by volunteer moderator Harriet Saxe. To learn more and register for this event, email Harriet at

MISSED IT? Watch Noelle Lynch, GC Intern, talk about APBD Genes, Enzymes, and Research

If you missed December’s Patient Chat, you can still watch the recording of our guest speaker, Noelle Lynch, a genetic counselling student (Columbia University) who is interning with our Foundation. Noelle discussed the genetics of APBD and what happens as a result of GBE1 gene mutations in APBD.

Watch Noelle Lynch

You can also watch recordings of previous Chats here.

We provide this FREE monthly newsletter resource to all of our community members.

This program is made possible by contributions to the APBD Research Foundation from donors like you.

Thank You! Text Link

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