Dr. Huizing investigates rare human genetic disorders and associated intracellular processes in order to gain insight into the changes in molecular function that underlie various genetic metabolic disorders, with the hope of developing treatments for these illnesses. (genome.gov)
If you took high school biology in the 1990s, you probably learned about the molecular basis for human genetic disorders such as cystic fibrosis (1989), Huntingtons (1993), Duchenne and Becker muscular dystrophy (1987), and a rapidly growing list of single - gene disorders, and the correspondingly rapid growth in clinical diagnostic technology based on DNA sequence information, enabling certain diagnosis, sometimes before the advent of overt symptoms. (slu.edu)
His research interests involve pharmacogenomics for hemoglobinopathies and neuropsychiatric disorders, transcriptional regulation of human fetal globin genes and genotype - phenotype correlation in human genetic disorders. (genomicmedicinealliance.org)