CZI’s Science In Society Annual Meeting Inspires and Draws on Patients’ and Researchers’ Collaborations

Over 200 rare disease advocates from patient-led and community organizations, as well as clinicians, researchers, and other leaders gathered in Newport Beach, CA for CZI’s Science in Society Annual Meeting. The Meeting, held on September 21-23, featured talks and panels with patient leaders who addressed the challenges and opportunities in patient-driven research. Other sessions covered equity in research, a screening of the award-winning documentary, No Ordinary Campaign, and a poster session highlighting the grantees’ work.

We took advantage of the Poster Session to disseminate our APBD / GSD IV Clinical Practice Guideline.

Natacha Pires, the Foundation’s Executive Director, participated in the meeting and shared, “Throughout the sessions and conversations, I was inspired, challenged, and moved to tears by the shared experiences and the fight for hope for a better tomorrow.”

CZI is building one of the world’s largest computing systems dedicated to non-profit life science research. CZI intends to leverage the data to create predictive models of whole cells. Mark Zuckerberg and Priscilla Chan share, in this video, how CZI is accelerating progress on important scientific questions about how our cells work.

APBD Research Funding Opportunity Through UPenn’s MDBR Program

The APBD Research Foundation in partnership with the Orphan Disease Center (ODC) at the University of Pennsylvania is pleased to announce the 2023 Million Dollar Bike Ride Pilot Grant Program. The program provides a one‐year grant to support research related to APBD. Two grants for $50,000 each will be awarded.

The primary focus for this grant opportunity is the identification of a biomarker that could be used to demonstrate effectiveness of a therapeutic for APBD.

Investigations related to the development of approaches that will prevent polyglucosan body accumulation or facilitate its removal from the central and peripheral nervous systems will also be considered.

THE DEADLINE TO SUBMIT LETTERS OF INTEREST HAS BEEN EXTENDED to Friday, October 6, 2023, by 8pm EST. For more details about how to submit your LOI and the application process, visit the ODC website.

This Request for Applications (RFA) is open to the international research community. All individuals holding a faculty‐level appointment at an academic institution or a senior scientific position at a non-profit institution or foundation are eligible to respond to this RFA.

Make a Transformational Gift Through Your IRA

If you are 70½ years old or older, you can make a tax-free gift to the APBD Research Foundation directly from your individual retirement account (IRA). This is called a qualified charitable distribution (QCD) and was authorized by the Secure Act 2.0. The new law took effect January 1, 2023. Make a transformational gift today and save on taxes when you support the APBD Research Foundation.

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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

October 19, 2023, 7:30pm ET | 4:30pm PT

November 9, 2023, 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

October 25, 2023, 8:00pm ET | 5:00pm PT

November 15, 2023, 8:00pm ET | 5:00pm PT*

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

*We are excited to have a guest speaker join us for the Patient Chat on November 15th: 

Patient Chat Topic: Fall Risk, Recovery Techniques, and Prevention Considerations

Date: Nov. 15, 5pm PT | 8pm ET

Guest Speaker: Tracy Boggs, PT, MPT, NCS | Duke University

Register for Free: Click here to register

2023 Nano-Rare Patient Colloquium 

October 12, 2023

For APBD patients who have the intronic mutation, experimental antisense oligonucleotide (ASO) medicines offer hope. The n-Lorem Foundation uses ASO technology to treat patients with nano-rare diseases, for free, for life. This Conference is a great opportunity to learn about research progress and hear case studies that illustrate the challenges associated with developing an optimized and personalized ASO medicine. Click here to read more and register…

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

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