About

Dr. Weck鈥檚 major research interest is translation of new knowledge of the genetic causes of disease into diagnostic testing, with the goal of better characterizing the spectrum, incidence and genotype-phenotype correlation of mutations associated with disease and to develop clinical testing in those genes with clinical utility. Dr. Weck has been co-investigator of several NIH-funded grants to implement exome/genome sequencing for diagnosis of genetic diseases from prenatal testing to adults, and is a member of the NHGRI Clinical Sequencing Evidence-Generating Research (CSER) consortium. She has been co-investigator of several institutional clinical trials to study the clinical utility of pharmacogenomics guided therapy and of the 黑料网seq tumor sequencing study to implement genomic sequencing for somatic mutation testing in cancer. Dr. Weck鈥檚 laboratory has developed mutation testing for genes associated with primary ciliary dyskinesia, X-linked Alport syndrome, and focal segmental glomerulosclerosis (FSGS). The 黑料网 molecular genetics laboratory is now one of the few laboratories in the country that offers clinical genetic testing for mutations associated with these diseases.