More research on better therapies for Citrullinemia, in the news just a few days ago:
“Dimension Therapeutics, Inc., a biopharmaceutical company advancing novel, adeno-associated virus (AAV) gene therapies targeting the liver, a central organ for devastating rare diseases, today announced a comprehensive research collaboration and license agreement with the Perelman School of Medicine at the University of Pennsylvania to advance treatments for inherited metabolic diseases. Exclusive programs under the collaboration will address citrullinemia type 1, phenylketonuria (PKU), and Wilson disease, rare diseases which often have devastating outcomes for patients and their families and for which there are few effective treatment options.”
Says Dr. James Wilson, M.D., Ph.D., professor of Medicine and Pediatrics and director of the Orphan Disease Center at Penn Medicine: “We believe these therapies, based on extensive, peer-reviewed preclinical validation and testing, have the potential to transform patient care and give clinicians new options to treat previously intractable diseases.”
Keep the faith, friends! New research is happening every day that may one day cure my special baby.
Jacob is doing awesome. There’s no question of that. He has amazing doctors, a wonderful nutritionist, and his condition is well managed. But let’s face it… “well-managed” is not the ideal. “Cured” is the ideal. And there may be hope on the horizon!
Yesterday, I ran across this article: “Ex-Pfizer Exec Gutierrez-Ramos to Lead Synlogic’s ‘Smart Bug’ Plan.” It sounds like science fiction. The concept is that scientists can engineer bacteria to find a disease or infection, treat it, and then self-destruct. You would think they would start going after big fish first – breast cancer, heart disease – but instead they are first going to target UCDs!
“Given this is a new, unproven technology, Synlogic’s strategy is to start out going after a few rare diseases, where the ‘benefit-to-risk ratio is extreme,’ and the company can know quickly whether it’s onto something, [CEO Gutierrez-Ramos] says. Its first two candidates will target urea cycle disorders (UCD), the name for a group of genetic diseases that trip up the body’s waste-disposal system; and phenylketonuria (PKU), an inherited disease characterized by the abnormal buildup of an animo acid called phenylaline…”
Can you imagine? It’s like a real-life magic schoolbus filled with citrullinemia-fighting ninjas. What if Jacob could be cured – really cured, not liver-transplant cured – with something as simple as a shot?