March 2022 Newsletter
🔬 Research Highlight

RBCK1 deficiency added to the list of diseases, including APBD, for which glycogen synthase-targeted therapeutics may be effective

A recent study published by Silvia Nitschke, PhD, Mitchell A. Sullivan, PhD and others at The Hospital for Sick Children, Toronto, and UT Southwestern, Dallas, furthers knowledge about polyglucosan bodies, a type of malformed glycogen observed in several genetic diseases including APBD. The study, "Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency" published in the journal Brain, characterizes polyglucosan bodies in a disease called RBCK1 deficiency.

The researchers find that polyglucosan bodies in RBCK1 deficiency, APBD, and also in Lafora disease, contain several structural similarities including overly-long glycogen chains. This suggests that each of these diseases may respond positively to therapeutics that reduce the activity of the enzyme glycogen synthase. This study demonstrates the possibility of preventing disease progression in RBCK1 deficient mice by reducing glycogen synthase activity in a manner similar to studies on APBD and Lafora disease mice.
Honor a Loved One:
Give the Gift of Hope

Is there an important date on your calendar? You know the one you never forget.  It may be your wedding anniversary or a birthday, or perhaps it is the date your loved one passed. There are many occasions to celebrate someone special in your life while supporting the work of the APBD Research Foundation. 

Many members of the APBD community make annual gifts to the APBD Research Foundation. When you make an annual gift in honor of or in memory of someone special, you not only aid in critical research and push us closer to a cure, you also help us remember too.

Will you commit to making a gift in honor of or in memory of someone special? Read more HERE.
JUST IN CASE you missed all of the Rare Disease Day activities last week, check out our NEW WEBPAGE showcasing the many ways the work of the APBD Research Foundation was shared around the globe during the month of February!

For the seventh consecutive year, the APBD Research Foundation has been invited to participate in Penn Medicine’s 2022 Million Dollar Bike Ride. With this program, $538,852 has been allocated to groundbreaking APBD research. You can be a part of driving APBD research forward. Learn more about joining our team, Tour de Friends, and riding with us!

Upcoming Events
From Chat events to workshops and scientific symposiums, the Foundation hosts programs for patients, caregivers, and health professionals so as to to build community and collaboration.

These events offer peer support, opportunities to hear from health experts, and a chance to hear from Foundation leaders. Our upcoming events include:
Caregiver / Family Chat
March 10, 2022, 7:30pm ET | 4:30pm PT

Patient Chat
March 23, 2022, 8pm ET | 5pm PT

To learn more about these events and to participate, email us at
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