Research Interests

The current research in my laboratory is directed towards a better understanding of cystic fibrosis (CF), an autosomal recessive disease that affects 1 in 2,500 live births in the Caucasian population. The hallmarks of CF include elevated sweat electrolytes, chronic obstructive lung disease, pancreatic insufficiency and infertility in males. Since the identification of the responsible mutations in a gene we named CFTR, my laboratory continues to focus on the detection of additional mutations in the gene, correlation of genotype with phenotype, and additional genetic loci (defined as modifier genes) which can modulate the severity of CF disease. These studies will bring additional insights into the pathogenesis of CF and alternative means of therapy for the disease. I have also organized a worldwide consortium for CF mutation analysis. The work has so far resulted in the description of over 1,200 different CFTR mutations, providing useful information for the structure and function analysis of the CFTR protein. In addition, I am interested in genetic and disease gene analysis in general, particularly through the physical mapping of human chromosome 7. The goal of the latter project has been to generate an integrated genetic, physical and transcriptional map for this chromosome to facilitate identification of other disease genes.

Membership Type

International Member

Election Year


Primary Section

Section 41: Medical Genetics, Hematology, and Oncology

Secondary Section

Section 26: Genetics