Raising Awareness on Rare Disease Day!

Did you know that 30 million Americans (that is 1 in 10) live with a rare disease? This February 28, we're joining the Rare Disease Day movement to raise awareness and drive change for 300 million people living with over 10,000 rare diseases, including APBD, around the world.

Research Highlight: Help Advance APBD Biomarkers Research Through an Innovative MRI Study

We need a few more more volunteers to participate in a groundbreaking APBD biomarker study led by Dr. Nirbhay Yadav (Johns Hopkins University).



Dr. Yadav is pioneering new MRI methods to image glycogen itself. If successful, these images could serve as critical disease biomarkers, paving the way for future clinical trials. 

If you are able to travel to Baltimore (MD) to participate in this study, here is more information:

Location: Kennedy Krieger Institute

Address: 707 N. Broadway, Baltimore, MD 21205 (Johns Hopkins Medical Campus)

Volunteer Requirements: Adults diagnosed with APBD are needed to undergo magnetic resonance imaging (MRI) scans of the brain or body. This research is being done to develop new types of MRI scans that are more sensitive to tissue changes compared to current methods. Volunteer participants are required to lay within the MRI scanner for up to 60 minutes. The MRI scan does not involve any radiation or injections.

For more information, please email Nirbhay Yadav, PhD at nyadav@jhu.edu.

Understanding Carrier Screening: A Key to APBD Genetics

Our Scientific & Research Coordinator Becca Reef and Genetic Counseling Intern Liv Palma teamed up to explain the genetics behind APBD. They also discuss carrier screening, which helps people understand if they might pass APBD to their children.

This is the first article in a two-part series focused on the genetics and diagnosis of APBD, providing valuable information for patients and families.

From MS to APBD--One Patient’s Journey



I have always been a performer at heart, starting with theater in school. For 28 years, I was a law professor at Indiana University in Indianapolis, and teaching gave me a captive audience. Beyond the classroom, I have been passionate about music and distance running. But over time, things began to change.

In 2006, I noticed some oddities in my vision. I also remember feeling a tingling sensation in my feet, though I didn’t think much of it at the time. In 2007, at the urging of my eye doctor, I saw a neurologist at New York-Presbyterian/Weill Cornell who diagnosed me with Multiple Sclerosis (MS). That turned out to be wrong, but at the time I had no idea just how long the road to an accurate diagnosis would be.

Rare Disease Drug Development: What You Need to Know

The National Organization for Rare Disorders (NORD) created a free, self-paced course to help patients, caregivers, and advocates understand how new drugs for rare diseases are developed. This course covers:

- how research and clinical trials work

- the steps in drug development

- how patients can access new treatments

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.

Patient Chats

Mar. 26, 2025, 7pm ET | 4pm PT

Apr. 23, 2025, 7pm ET | 4pm PT

The Patient Chat is hosted by volunteer moderator Harriet Saxe. To learn more, email Harriet at harriet@apbdrf.org.

Caregiver / Family Chats

Mar. 13, 2025, 7:30pm ET | 4:30pm PT

Apr. 10, 2025, 7:30pm ET | 4:30pm PT

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

Plan Your Legacy in 2025

Planning your legacy by creating a will has never been easier or more impactful! In just 20 minutes, you can secure your family's future. And, you can make a bequest to support life-changing APBD research.



The APBD Research Foundation partners with FreeWill, a trusted tool used by over a million people. With your will, you can outline your wishes, bring peace of mind to your loved ones, and leave a lasting legacy of hope.

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

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

Thank You!

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