PAF Virtual Family Day – October 24th 10 am – 12 noon CDT (Central Daylight Time) 3:00 PM GMT
Hi everyone! My name is Shayna Rosenson and I am currently a senior at the University of Wisconsin-Madison studying finance and disability rights & services. On a more personal level, I am the cousin of Jordan Franks and the niece of Jill Chertow. I first began my involvement with the Propionic Acidemia Foundation in 2016 when I worked with Jill to nominate PAF for Deerfield High School’s annual fundraising beneficiary. I am excited to share that I am back this fall to lead some fun fall activities for the whole family over Zoom! If you are interested in participating in any of the activities, please email [email protected] for the zoom links and more information. I look forward to seeing many of you soon!
Saturday, October 3rd at 1:00 CDT: Dance Party
Sunday, October 25th at 4:00 CDT: Halloween Art
Saturday, November 7th at 1:00 CST: Character Dance Party
Sunday, November 15th at 4:00 CST: Thanksgiving Art
PAF awards a $51,500 continuation grant to Guofang Zhang, PhD, Duke University
“Propionyl-CoA and propionylcarnitine mediate cardiac complications in patients with propionic acidemia”
PAF awards a grant to The Community Health Clinic to offer a Free Testing Clinic for Amish PA Variant
Due to the generosity of a grant from the Propionic Acidemia Foundation, The Community Health Clinic (CHC) of Topeka, IN will offer free genetic testing on specific dates for the Amish PA Variant (c.1606A>G) in the PCCB gene this fall. Because the Amish PA variant can be missed on newborn screening, the CHC and PAF have partnered up to help diagnose Amish community members at risk for significant PA complications. These free testing clinics will occur BY APPOINTMENT ONLY on October 27, November 5, November 10, and November 12,2020 from 3-8pm. Due to COVID-19 restrictions, you must make an appointment for testing for each individual person desiring testing. This free testing is on a first come, first serve basis and is available to any Amish community member or individual who is Amish by descent as testing is only for the specific Amish variant. Other PA-causing variants will not be detected in this testing. Please call The CHC at 260-593-0108 for more information or to schedule your free testing.
PAF awards a $50,000 New Grant to Ken Maclean, PhD, University of Colorado Denver
“Chemical Chaperone Treatment to Restore Enzyme Activity in Folding Mutations of Propionyl-Co-A Carboxylase: Towards a Personalized Therapeutic Strategy in Propionic Acidemia (PA)” – In Summer 2020, PAF awarded a $50,000 grant
US Food and Drug Administration has cleared HemoShear to proceed with a clinical trial of their investigational drug HST5040 for the treatment of MMA and PA.
- Letter to MMA and PA Community
- HemoShear Receives IND clearance for HST5040 for metabolic diseases June…
PAF awards $44,253 New Grant to Rajavel Elango, PhD, University of British Columbia
“Optimizing amino acids in medical foods to manage propionic acidemia”
PAF Awards $30,591 Continuation Grant in 2020
Eva Richard, PhD, Universidad Autonoma de Madrid, Spain
“Cardiomyocytes derived from induced pluripotent stem cells as a new model for therapy development in propionic acidemia”
2020 PA FAMILY DAY (postponed due to Covid-19) – at this time, PAF and CHC will be revisiting in 2021.
Spring newsletter is available.
Fall stories/articles due August 15th, 2020. Please email to [email protected] Please register with PAF if you would like to receive the newsletter by mail or email or update your contact information.
Due October 1, 2020 – For questions, contact [email protected]
PROP Nutrition Guidelines and Toolkit are now available. NMG PROP announcement Final
PROP Nutrition Guidelines and Toolkit are now available online. The Nutrition Management Guideline for individuals with propionic acidemia (PROP) is part of a larger project undertaken by the Southeast Regional Newborn Screening and Genetics Collaborative (SERC) (HRSA Region 3) and Genetic Metabolic Dietitians International (GMDI) to develop nutrition management guidelines for inherited metabolic disorders (IMD).
PA International Patient Registry
The PA International Patient Registry provides a way for PA patients and families worldwide to improve the understanding of the disorders and accelerate research by reporting information about how the disorder affects them. The Registry is itself an IRB-approved research project and the data collected will help characterize the condition of people living with PA. You can find out more on www.paregistry.org
Pounding the Pavement for PA
Join the PAF Pounding the Pavement for PA team or start your own! Run in any race, around your block, or become a “virtual runner” Contact Brittany Smith for more information at [email protected] . Check out events to follow our progress.