We are just two weeks away from our virtual APBD Scientific & Community Conference. Have you registered yet?


Our conference will bring together researchers, health care providers, industry partners, and individuals and family members impacted by APBD to connect, share, and accelerate APBD and allied diseases research. We have over 30 speakers joining us for this two-day event.

Register for Free

Interested in Sponsoring our Conference?


Sponsoring the APBD Scientific and Community Conference is a great opportunity for you or your company to: promote your company’s brand, interact directly with healthcare professionals and patients, and

demonstrate your support for the APBD and allied diseases community. 


Contact Anesa Kajtazovic at anesa@apbdrf.org with questions. Thank you for choosing to support the APBD Research Foundation!

APBD Research Funding Opportunity Through UPenn’s Million Dollar Bike Ride

The APBD Research Foundation in partnership with the Orphan Disease Center (ODC) at the University of Pennsylvania is pleased to announce the 2024 Million Dollar Bike Ride Pilot Grant Program. This program provides a one‐year grant to support research related to APBD.


Two grants for $56,857 each will be awarded. A project may be considered for up to $113,714 in funding if the researcher has an outstanding project and submits two proposals: one for $56,857 and another for $113,714.

 

Priority will be given to projects advancing biomarker development, which is crucial for the design of future therapeutic trials.

 

We also welcome proposals that enhance APBD understanding, support clinical phenotyping for trials, or have strong potential for federal funding. Research on preventing or removing polyglucosan bodies from the nervous system will also be considered.

 

Letter of Interest (LOI) applications are due on September 20, 2024, 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 encouraged to apply.

Research Highlights

Natural History Study of Hepatic Glycogen Storage Disease type IV and Comparison to Gbe1ys/ys Model


Researchers at Duke University have published a paper that sheds light on the relationship between APBD and Glycogen Storage Disease Type IV (GSD IV) in the scientific journal JCI Insight. The study -- conducted by Dr. Rebecca Koch and Dr. Bridget Kiely under the guidance of the paper’s senior author Dr. Priya Kishnani -- shows that there may be more overlap between these two disorders than was previously suspected. Read more


Development of the APBD-SQ, a Novel Patient-Reported Outcome for Health-Related Quality of Life in Adult Polyglucosan Body Disease



Clinicians and researchers from the New York University Grossman School of Medicine, in collaboration with the APBD Research Foundation, have published an exciting paper in the Journal of the Neurological Sciences. The study introduces the first disease-specific patient-reported outcome (PRO) measure for APBD, capturing the unique complexities of the condition and offering valuable insights for future treatment and clinical trials. Read more


Editor’s Note: "Research Highlight" is an ongoing feature in our newsletter. It is focused on scientific publications of interest to our community.

Meet Becca Reef, Our Newest Team Member!

The APBD Research Foundation is delighted to introduce a new team member, Becca Reef, who has joined us as our part-time Science Coordinator. 


Growing up just outside of Boston, Massachusetts, Becca was inspired to focus on making the diagnostic journey more patient-centric after watching her grandfather navigate the challenges of a rare disease. Her commitment to rare disease advocacy was strengthened at the University of Rochester, where she majored in neuroscience and minored in clinical psychology. As an undergrad, she connected with the Special Olympics organization and found herself helping write memoirs of people who had been diagnosed with cerebral palsy. She describes the experience as “profound.” Read more

Meet Liv Palma, Our New Genetic Counseling Intern!

We are pleased to introduce you to Liv Palma, another new member of our team. Liv is a genetic counseling graduate student from Columbia University. She is motivated to become a genetic counselor by her passion for patient advocacy and desire to provide compassionate guidance to those navigating a genetic diagnosis.



By working together with patients and caregivers, Liv will help craft personal narratives to amplify the voices of those affected by APBD. She will also author new website content. Be on the lookout for a new webpage that describes presymptomatic diagnosis of APBD and another new webpage explaining the importance of knowing the genetic variants (mutations) cited in your APBD diagnosis. Welcome Liv!

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

September 12, 2024 7:30pm ET | 4:30pm PT

October 10, 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

August 28, 2024 8pm ET | 5pm PT

September 25, 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.

Create Lasting Impact: Secure Your Legacy with a Will

Did you know that August is National Make-A-Will Month?

 

It's a great opportunity to ensure your family’s future and honor your legacy. Here’s why making a will matters:


  • Security: Clearly outline your healthcare and financial wishes for the future. 
  • Peace of Mind: Ensure your loved ones are cared for.  
  • Impact: Your legacy helps propel us toward advancing APBD research for treatments, deepening understanding, and ultimately a cure. 


We've partnered with FreeWill, a tool trusted by over a million users that makes will creation simple and free. In as little as 20 minutes, you can protect what matters most for generations to come.

 

Take action today to shape a brighter tomorrow for those affected by APBD.

 

Start My Will


If you have any questions about FreeWill or legacy giving, please contact Anesa 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.

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