2013 Propionic Acidemia Foundation Conference Presentations
|Treatment of Cardiac Disease in PropionicAcidemia
Kathryn Chatfield, MD PhD is an Instructor of Pediatrics, Cardiology, University of Colorado School of Medicine Director, Cardiac Genetics Clinic She received her medical degree from Dartmouth Medical School, Hanover, NH. She did her Residency at Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA and Fellowships in Medical Genetics at Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA and Pediatric Cardiology at the University of Colorado, Children’s Hospital Colorado, Aurora, CO. Dr. Chatfield’s clinical interests include care of children with genetic syndromes including: Marfan syndrome and related connective tissue disorders, Noonan-spectrum disorders, familial congenital heart disease, metabolic and other inherited forms of cardiomyopathy. Her research focus is the role of mitochondrial energy metabolism in pediatric cardiomyopathy and heart failure.
N-carbamylglutamate as treatment for high blood ammonia levels in propionic acidemia
Renata C. Gallagher, MD, PhD has been with the metabolic group at Children’s Hospital Colorado since August 2006. She attended medical school at the University of California, San Francisco (UCSF) and also completed a PhD there. She trained in Pediatrics in Seattle, and returned to the San Francisco Bay area to train in Genetics and in Biochemical Genetics at Stanford Medical Center and UCSF. Although she has a background in basic science research, in Colorado she has been involved in research studies that directly involve patients. She directs a study on Urea Cycle disorders at this site, and also directs a study on the use of N-Carbamylglutamate in propionic and methylmalonic acidemias.
Cindy Freehauf, RN, CGC, is an Associate Professor at The University of Colorado Denver. She obtained her nursing degree at Indianapolis University and her maters in Genetic Counseling at University of Colorado Denver. She has worked in the Children’s’ Hospital Colorado Metabolic Clinic for over 20 years. During this time, Cindy her colleague Laurie Bernstein, created Eat Right, Stay Bright a four chapter anticipatory guidance and education tool for professionals providing care to individuals with metabolic disorders. Cindy and Laurie also implemented use of peer group clinics, an innovative model of care wherein patients with similar ages and medical care issues are seen together. Activities specifically designed to promote patient education and psychosocial adjustment are done in the group clinics. “Let’s Play with DNA”, is an example of such activity. Cindy presented an adapted version of this activity at this conference.
Approaches to Molecular Therapy for Propionic Acidemia
Jan P. Kraus, PhD. is a Professor of Pediatrics/Cell and Developmental Biology at the University of Colorado. He received his Master’s in Science from Charles University in Prague, his Ph.D from Basel University, and held a post doctoral fellowship at Yale University. He has an interest in inborn errors of metabolism, specifically Propionic Acidemia and Homocysteinuria. He has been awarded multiple grants by the Propionic Acidemia Foundation including investigating the structure of PCC, performing chaperone studies, and early enzyme replacement therapies. His lab is one of the few that can identify the genetic mutation for PA. He also assisted with a larger scale study in Europe looking at correlations betwen genotype and phenotype in those with Propionic Acidemia.
Presentation is not available.
Please check out the KrausLab web-site for more information on Dr. Kraus’s Research.
A Heart Felt Thank You to Our Event Sponsors:
Gene Team and Vitaflo for Financial Support.
Cambrooke Foods and Green Mountain Coffee for Product Donations.