Raising Awareness on Rare Disease Day! | |
Did you know that 1 in 10 Americans live with a rare disease? This February 29, we're joining the global Rare Disease Day efforts by sharing our aspirations and raising awareness for APBD and other rare diseases on social media.
Click here to see our inspiring video collage…
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Researchers at the Cleveland Clinic have published their findings of a proteomic investigation of APBD that adds to our understanding of the underlying mechanism of the disease. The findings are published in the scientific journal Frontiers in Neurology. Understanding the pathogenesis of ABPD is important for the development of effective APBD therapies.
The researchers, led by Dr. Marvin Natowicz (Professor of Pathology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, and a staff physician at the Cleveland Clinic), used lymphoblasts to explore the underlying mechanism of APBD.
Read more...
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Access GBE-1 Genetic Prevalence Estimates | |
The RARE Genomes Project (RGP) at the Broad Institute of MIT and Harvard has developed a publicly available tool, the Genetic Prevalence Estimator (GeniE), which helps users estimate carrier frequency and genetic prevalence for recessive conditions.
The tool uses data from ClinVar, an open-source database that collects and reports variant and phenotype relationships, and gnomAD, which provides allele frequencies derived from aggregated exome and genome sequences from around the world, to estimate the proportion of a population with a causal genotype for a genetic disorder. GeniE makes estimating genetic prevalence more transparent, standardized, and accessible to the larger genomics community.
Recently, GeniE launched new functionality that allows users to make their estimates public.
Access the GBE-1 genetic prevalence lists and estimates using GeniE here…
GeniE was designed based on the outcomes from the RGP Genetic Prevalence Study. This Chan Zuckerberg Initiative (CZI)-funded project study provides rare disease patient organizations with genetic prevalence estimates. In 2022, during our Scientific and Community Conference, Samantha Baxter, MS, CGC (RGP) shared the findings of their study, estimating the global, pan-ethnic prevalence of GBE1-related disease, which includes APBD and earlier onset forms of glycogen storage disease type IV, at 1 in 325,000. This genetic prevalence means there could be as many as 24,000 individuals in the world with GBE1-related disease. We are working with our academic partners to develop a manuscript for publication.
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Meet Alice Tran, Our New Intern! | |
Alice is a genetic counseling graduate student at the University of Pennsylvania in Philadelphia. Her interest in adult neurogenetics began years ago when she was an intern at a research clinic for familial neurodegenerative disorders. During her internship with us, Alice will raise awareness of APBD and establish relationships with businesses whose products and services support APBD patients and their families. She is looking forward to getting to know and work with our community. Welcome Alice!
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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.
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Caregiver / Family Chat
Mar. 14, 2024 7:30pm ET | 4:30pm PT
Apr. 11, 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.
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Patient Chat
Mar. 27, 2024, 8pm ET | 5pm PT
Apr. 24, 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.
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Save the Date! May 6: APBD and GSD IV Focus Group
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On May 6, 11am-2pm ET, we will be hosting a virtual APBD and GSD IV Focus Group Meeting to bring together patients, families, patient advocacy groups, clinicians, and researchers within the APBD and GSD IV communities.
We have partnered with Humanized Solutions to facilitate the Focus Group. The discussions will help us, gather insights on the needs of the GSD IV community, collect best practices from both GSD IV and APBD families and representatives, and identify priority areas of possible near-term and future collaborations. Stay tuned for more information!
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SAVE THE DATE! June 8: 2024 Million Dollar Bike Ride
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On June 8, the APBD Research Foundation will be participating in the 2024 Million Dollar Bike Ride – once again, bringing the APBD community together to accelerate research.
Thanks to the Bike Ride, our researchers at Columbia University, Duke University Medical Center, UT Southwestern Medical Center, University of Florida, Newcastle University, and Hadassah Medical Organization, have collectively received approximately $739,000 in pilot grants. Stay tuned for more information!
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Your Legacy Can Impact the Fight Against APBD | |
Your legacy can impact generations as we work to find treatments and a cure, while improving the lives of those living with APBD.
Two supporters have already included a gift to the APBD Research Foundation in their estate plans. They know they can make a lasting impact at no cost today.
You can create your legacy, too, by using FreeWill, an online estate planning tool that provides free access to will-making services. One in six people who use FreeWill choose to leave a bequest to charity.
Create your legacy and designate APBD Research Foundation as a beneficiary of your legacy here...
To learn more, contact Anesa Kajtazovic (our Foundation's Community Affairs Officer) at anesa@apbdrf.org.
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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
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