New and Upcoming Events
February 28, 2023 – Rare Disease Day! Show your Stripes in your PAF Rare Gear! Spread awareness and help raise funds by eating at Panda Express on February 28th
Saturday, March 4, 2023 – PA/MMA Family Education Conference, Chicago, IL
Saturday, July 22, 2023 – Save the Date – PA Education Conference – “Heart to Heart”
Formula Production Update from Abbott – Metabolics Update 9_12_22 Patients Final
Wednesday, September 14, 2022, 6:00 PM CT – PA Chat in Spanishl
Thursday, September 15, 2022, 6:00 PM CT – PA Chat in English
Saturday, September 24, 2022 – Gwen & Allison for a Cure 17th Annual Tailgate and Corn Hole Tournament – Virtual Event
PA Zoom Chat in Spanish – August 3, 2022
2022 HCU/OAA/PAF Family Conference June 25-26
More information is on the conference tab.
PAF Spring 2022 Newsletter is now available! Submit your stories for the Fall 2022 Newsletter by August 1st.
Wednesday, August 3, 2022 – 7:30 PM CT – Parent Chat in Spanish
Saturday, May 22, 2021 – 3:00 PM EDT – Inborn Errors of the Metabolism Community Chat: Advocacy In Action: Inborn Errors of the Metabolism Community Chat on Advocacy in Action.
What is and the status of the Newborn Screening Reauthorization Act and the Medical Nutrition Equity Act.
Hear from our panelist on their lessons learned, tips and tricks, and other great advice
We will cap it off with ways you can advocate for these vital resources in our communities. Video
Saturday, May 15, 2021 – 10:00 AM CT Low Protein Community New Parent Cafe
For parents, relatives and caregivers of children ages 0-5 that require a low protein diet. Come network and learn from other families. Topics will include: How to navigate nursing and bottle feeding, Weening and introducing solids, Childcare, Picky toddlers, Early intervention programs And more!
Saturday, May 1, 2021 – 1:00 CDT PA Chat
Open to our wonderful PA Community! Come and join us for a delightful chat to share tips, experiences, and any thoughts on Propionic Acidemia. This will be a great experience for new members to learn from one another! All attendees will be entered in a raffle for a PAF mask.
Sunday April 25, 2021 – 1:00 CDT PA Spring Dance Party with Shayna – Fun for the whole family.
Saturday, April 17, 2021 – 12:00 PM Central Time – Informational Webinar with Hemoshear Therapeutics on their trial. Target audience: families
Speakers: Nicola Longo, MD PhD, Medical Director: Biochemical Genetics and Newborn Screening, Professor of Pediatrics and Adjunct Professor of Pathology, University of Utah School of Medicine; Gerry Cox, MD, Hemoshear Therapeutics; Brian Wamhoff, PhD, Hemoshear Therapeutics; Kim Chapman, MD, Ph.D., FABMG, Medical Geneticist, Children’s National, Washington DC
Saturday, April 10, 2021 11:00 am – 12:30 EST
Advancing mRNA to Treat Organic Acidemias – Informational Webinar on Moderna’s upcoming treatment and clinical trial. Target Audience: Families
Speaker: Matthew Lumley, Moderna, Senior Director, Rare Disease Clinical Development
Video Link: Coming Soon
Tuesday, April 13, 2021 1:00 pm – 2:00 pm EST – Introducing HST5040 Being Developed for Methylmalonic and Propionic Acidemias (for clinicians) – presented by HemoShear Therapeutics
PAF Awards $49,953 Initial Research Grant.
PI: Pawel Swietach, Professor of Physiology, Department of Physiology, Anatomy & Genetics, University of Oxford, England
“Aberrant protein propionylation and distinct histone marks in propionic acidemia: new disease mechanisms and risk factors for cardiac disease”
PAF Awards $50,000 Initial Research Grant
PI: Sander Houten, Ph.D., Department of Genetics and Genomic Sciences, Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, NY, US
Co-PI: Robert J. DeVita, Ph.D., Department of Pharmacological Sciences, Drug Discovery Institute, Icahn School of Medicine at Mount Sinai, NY, US
“Substrate reduction as a novel therapeutic strategy for propionic acidemia”
Grant Award Announcements coming soon.
Rare Disease Day Spotlight 2021 – For Rare Disease Day, we invited families to express their gratitude for people that make a difference in their lives.
Hi everyone! My name is Shayna Rosenson and I recently graduated from the University of Wisconsin-Madison. 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, February 14th at 1:00 PM CST; Art and Dance Party
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. Additional Dates added: Friday, March 26th and Wednesday, March 30th. 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. New spring dates to be offered: 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]com Please register with PAF if you would like to receive the newsletter by mail or email or update your contact information.
Due October 1, 2021 – 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.