PA Registry A global PA registry needs to be created so all metabolic geneticists and researchers can freely access genotype/phenotype data and compare treatment strategies.
Mouse Model of PA: A new, preferably transgenic mouse model(s) of PA needs to be constructed.
Brain studies are needed to determine the many aspects of disrupted metabolism and neurological defects in the PA brain.
Conditions necessary for successful stem cell transplantation must be established and followed by experiments that confirm long-term production of PCC in the liver by PCCA or PCCB.
Viral vectors that deliver PCCA or PCCB specifically to the liver need to be constructed and tested for long-term production of PCC.
Assembly of PCC by chaperone proteins and the analysis of splicing mutations in PCCA and PCCB have the potential to yield new treatments for a number of PA mutations.
Cardiomyopathy is a life-threatening PA complication. Patients need options for prevention and the cause(s) identified.
Graduate students, medical students and Post-docs need to be encouraged to take a look at these issues and consider pursuing propionic acidemia studies to ensure a new generation of metabolic researchers will follow today's leaders.
Additional Research Studies Needed: Conditions that Complicate Treating PA
Cardiomyopathy Optic Nerve Atrophy
Glucose Utilization/ Hypoglycemia Issues
Pancreatitis Gut Motility Issues
ADD/ADHD Development and Autism Disorders
Additional Researchers Needed:PARnet is Looking to the Future
and established Lab Directors
are needed to study these issues and complications of PA
The opportunities for PA research are varied and are waiting for more researchers to pursue!
If you are a molecular biologist, biochemist, geneticist or an M.D./Ph.D. medical student please consider pursuing studies on PA so together we can conquer this disorder.