Organic Acidemia Association

A devastating diagnosis for her 10-year-old son compelled Alltrna CEO Michelle Werner to leave her career in pharma, where she helped advance new immunotherapies that transformed cancer treatment, to usher in a new drug development paradigm in rare diseases. Alltrna is leading the development of new tRNA medicines that may be able to treat patients across hundreds, maybe even thousands, of life-threatening conditions, rather than tackling each individual disease one at a time.? But we can’t do it alone. In this Fortune article, Michelle shares her journey and calls upon patient groups, clinicians, regulators and others in pharma to join her on her quest to double survival rates for rare diseases—many of which overwhelmingly affect children. "For these young patients, doubling survival isn’t just about extending life; it’s about giving them a chance to grow up, to experience milestones their families once feared they’d never see." Read the article here: https://lnkd.in/gkX7Ya59 #tRNA #RNA #tRNAmedicines #tRNAbiology #rarediseases #raredisease #StopCodonDisease #geneticmedicines

Many parents can relate to the worry of a sick child. When that child is diagnosed with a rare disease, the journey can feel isolating and uncertain. Yet, behind every rare disease statistic is a story of resilience—like Ayla’s. Ayla lives with methylmalonic acidemia (#MMA), a rare metabolic disorder that requires constant medical vigilance. Her mother, Melanie, recalls the overwhelming early days of diagnosis and the fight to find answers. Through every challenge, they’ve found strength in their journey and in the rare disease community. Read more from our VP Global Medical Affairs – Rare Disease & Therapeutics, Monica Fay, who knows the journey well as a rare parent herself and watch Ayla’s story. ????#RareDiseaseDay https://lnkd.in/ekmH8kPG

#RareDiseaseDay is a reminder that for all our patients and families with an #InheritedMetabolicDisorder every day is a rare disease day. There are over 1500 IMDs and they are all rare (or ultra-rare) and less than 1 in 5 of them have an available treatment. In fact, because they are rare, finding information about treatments can be exceptionally difficult. Thankfully the IEMbase has now been updated to included treatment information for every condition where a treatment is available. This Treatabolome (yes it's a real word) is the work of Bibiche den Hollander, Eva Hoytema van Konijnenburg,?et al who undertook the unenviable task of collating all of this information. Eva joined forces with the inimitable Clara van Karnebeek to explain it further, listen here: https://lnkd.in/e3uu9Xxn Brittany Hewitson,?Jan van der Meijden,?Berith Balfoort,?Brad Winter,?Annelieke Muller,?Wyeth Wasserman,?Carlos Ferreira,?Clara D. van Karnebeek

We’re proud to support Organic Acidemia Association with our new t-shirts and show our stripes for #RareDiseaseDay2025 ??! OAA represents over 20 different organic acidemias, and this t-shirt design showcases all the different OA disorders! Thank you to OAA for sharing more about #propionicacidemia and #inheritedmetabolicdisorders with our team! #ShowYourStripes #RareDiseaseWeek #StopCodonDisease #organicacidemia

Please join us for the upcoming Children’s Hospital of Orange County’s #Pediatric #GrandRounds with invited speaker Charles P. Venditti, MD, PhD, on Wednesday March 5th at 11am EDT (8am PDT), titled: “The future of #genetic #therapy in #inbornerrors of #metabolism: Lessons from patients and mice with #MMA” CHOC Children's Cristen Frost Hemingway National Human Genome Research Institute (NHGRI) Organic Acidemia Association Kathy Stagni HCU Network America Danae' Bartke Rebekah Barrick Ryan Mahoney Bex Jaeger, MS CGC Kathryn Gasperian National Organization for Rare Disorders Marybeth McAfee #raredisease #rarediseases #rarediseaseawareness Dr. Chuck Venditti is Chief of the #Molecular #Medicine Branch and a Senior Investigator in the National Human Genome Research Institute at the National Institutes of Health. He graduated from MIT, followed by MD, PhD academic scholarship to attend Penn State University. Dr. Venditti next completed #pediatrics training at Massachusetts General Hospital/Harvard Medical School, then a combined #clinical and #biochemicalgenetics fellowship at the Children’s Hospital of Philadelphia/University of Pennsylvania School of Medicine. Immediately after fellowship, he joined the faculty of the NHGRI, where he developed a #translationalresearch program to study the #naturalhistory and #clinical #phenotype(s) of the #hereditary #methylmalonic acidemias (MMA), #cobalamin #metabolic #disorders and #propionic #acidemia (#PA). ? Dr. Venditti has received several national and international awards, including a Presidential Early Career Award for Scientists and Engineers (PECASE), the US Government’s highest honor for early-career scientists. He is an elected member of the American Society of Clinical Investigation (ASCI), serves on numerous medical advisory and editorial boards, and is a frequent ad hoc reviewer for local, national, and international granting agencies. He is the Director of the NHGRI Physician Scientist Development Program, Medical Director of the JHU/NIH #GeneticCounseling Program, and a member of the trans NIH #GeneTherapy Task Force. He has authored more than 235 peer reviewed research articles, reviews, and textbook chapters. ?His publications include original contributions related to #newbornscreening, model organism [worms, fish, mice] biology, disease gene identification, gene therapy and #mRNAtherapy, therapeutic #genome editing, #AAV integration, post-translational modifications, and broadly, #clinicalresearch focused on #organicacidemias and disorders of propionyl-CoA oxidation. Dr. Venditti also is an #inventor, with a portfolio that encompasses 25 US #patents, including devices and methods of use for isotopic monitoring of metabolism in mice and humans, AAV and #lentiviral gene therapy vectors, #biomarkers, cobalamin #therapeutics, immune modulation, posttranslational modification biology and reagents, and nuclease free mediated #genomeediting

Inherited errors of metabolism are #rare genetic disorders that disrupt the way the body metabolizes or breaks down food. One type is organic acidemias, which include propionic acidemia (#PA) and methylmalonic acidemia (#MMA). Watch to learn more and join us in raising awareness ahead of #RareDiseaseDay. ?