Research Highlight

Seeking Volunteers from the APBD Community: Help Advance APBD Biomarkers Research Through An Innovative MRI Study


Nirbhay Yadav, PhD, assistant professor at the F.M. Kirby Center, at the Kennedy Krieger Institute is seeking volunteers for an important study aimed at identifying a biomarker for APBD.


Traditional MRIs often reveal structural brain changes in APBD patients. Dr. Yadav is exploring innovative MRI methods that seek to image glycogen itself. If successful, the glycogen images could possibly serve as disease biomarkers.

If you are able to travel to Baltimore 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: 5-15 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.

Foundation on the Road: Advocating for You and Learning from Peers at Key Stakeholder Meetings



On the heels of our recent Conference, the Foundation team has been representing our community in person and virtually at key stakeholder conversations across the country, including:

Chelsea’s Hope Conference | San Diego, CA | Sept. 25-27 


Lafora Disease, Pompe Disease, and APBD have certain overlaps. At the Chelsea’s Hope Conference, Deberah Goldman, PhD, APBDRF board member and patient, and Tiffany House, president of the International Pompe Association, sought collaborative opportunities to advance research and drug development.

Global Genes Week in Rare Conference | Kansas City, MO | Sept. 26-28


Jeff Levenson, DDS, APBDRF’s co-president, represented the Foundation at the screening of the APBD documentary, “Life through a Lens.” We also shared findings on the global prevalence of GBE1-related diseases during a virtual Poster Session.

CombinedBrain | Kansas City, MO | Sept. 28


Jeff Levenson, DDS, attended the CombinedBrain conference, in Kansas City, Missouri, on behalf of the APBD Research Foundation. It was a chance to be introduced to the wonderful work they are doing and explore opportunities for working together.

US FDA’s Rare Disease Innovation Hub Public Meeting | Silver Spring, MD | Oct. 16


Becca Reef, MS, CGC, the Foundation’s Scientific Coordinator, was one of just 40 who presented at the FDA’s public meeting, “Advancing Rare Disease Therapies Through an FDA Rare Disease Innovation Hub.”

CZI Science in Society Convening | San Jose, CA | Oct. 15-17


Natacha Pires, MS, MBBS, the Foundation’s Executive Director, joined over 200 rare disease advocates, clinicians, researchers, and other leaders for the CZI Science in Society Annual Meeting. At CZI’s request, she presented the Foundation’s role in developing an APBD-specific Quality of Life and Severity of Disease measurement tool and shared findings during the Poster Session.

National Organization for Rare Disorders “Rare Summit” | Washington, D.C. | Oct. 20-22


Becca Reef joined clinicians, researchers, industry representatives, and fellow advocates. She represented us in a full-day meeting for Patient Registry community leaders. Becca also presented the Foundation's collaborative efforts with the Rare Genomes Project to refine prevalence estimates for GBE1-related diseases.

Read more

APBD Research Foundation Announces Strategic Communication Initiative with Costello Medical



We are excited to announce a new collaboration with Costello Medical, Inc., following our successful application to the health communications company's pro bono project initiative for rare disease organizations. With Costello Medical’s support, we are building bridges between the APBD and Glycogen Storage Disease type IV (GSD IV) communities by enhancing communication and support for those affected.



Read more

Tribute Gifts: A Unique Way to Honor the Caregivers in our Community!

Have you considered making a special gift in honor of a caregiver you may know in our community? This November, recognized annually as National Family Caregivers month, we encourage you to acknowledge these special advocates within our community.


We also invite you to make a tribute gift to the Foundation in honor of a caregiver who inspires you or makes your APBD fight a little easier. Express your appreciation while also boosting vital advocacy, research, and support programs.


Make a gift in honor of a caregiver…


We will acknowledge your gift by letting the honoree or family member know on your behalf!

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

Nov. 14, 2024 7:30pm ET | 4:30pm PT

Dec. 12, 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 linda@apbdrf.org.

Patient Chat

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

Dec. 18, 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 harriet@apbdrf.org.

Did you miss the 2024 APBD Scientific & Community Conference?

No worries! You can now catch the sessions on our YouTube channel.

Watch the APBD Conference sessions

What Will Your Legacy Be? 

Creating a will is easier than ever! In just 20 minutes, you can secure your family’s future and make a lasting impact. The APBD Research Foundation partners with FreeWill, a trusted tool used by over a million people. By making a will, you can outline your wishes, give your loved ones peace of mind, and support APBD research. 


Start my Legacy


If you have any questions about FreeWill or legacy giving, please contact Anesa Kajtazovic at anesa@apbdrf.org.

 

P.S. If you have already included a gift to the APBD Research Foundation in your estate plan, please fill out this form! We’d love to thank you for your generosity.

 

Disclaimer: Please note that FreeWill is not a law firm and cannot provide legal advice, nor can the APBD Research Foundation. We would always encourage that a lawyer review your will and any other important legal documents FreeWill may generate for you.

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

Facebook  Twitter  Youtube  

Adult Polyglucosan Body Disease Research Foundation | 2257 East 63rd Street | Brooklyn, NY 11234 US

Unsubscribe | Update Profile | Constant Contact Data Notice

Constant Contact