Homocysteine and its Metabolism/Inborn Errors of Metabolism (Homocystinuria). We have a large cohort of patients in my Adult Genetics Clinical with homocystinuria. We are using this opportunity to explore new treatments of homocystinuria and inve...
Homocysteine and its Metabolism/Inborn Errors of Metabolism (Homocystinuria). We have a large cohort of patients in my Adult Genetics Clinical with homocystinuria. We are using this opportunity to explore new treatments of homocystinuria and investigate the effect of elevated homocysteine on other risk factors for cardiovascular disease.
Development of Laboratory Methods in Molecular Diagnostics and HPLC We are developing and implementing assays based on hybridization probes to replace standard assays based on restriction fragment length polymorphism used to genotype for single nucleotide polymorphisms in the clinical laboratory. The benefit of this is decreased net cost and faster turn-around-time.