Gender	Female
E-mail	ruth.kornreich@mssm.edu

Molecular Genetics
A major focus of the molecular genetics diagnostic laboratory is performing population based carrier screening for diseases that are common in the Ashkenazi Jewish population. We have developed a screening panel of sixteen diseases which are prevalent in this population and a limited number of founder mutations exist. For many of these diseases, this laboratory was instrumental in establishing the testing, including determination of the carrier frequency and allele distribution in the Ashkenazi Jewish population in the greater New York metropolitan area, and making screening routine. We are continually looking to add diseases to the panel as testing becomes feasible. The molecular diagnostic laboratory utilizes multiplex bead array primer extension analysis to screen for the known mutations. We also test for diseases in which common mutations do not exist, but are of research interest to the institution by mutation scanning using such techniques as dHPLC and sequence analyses. The laboratory is also actively involved in pharmacogenetic testing and hopes to make personalized medicine routine. This involves the study of variations in human genes responsible for the metabolism of drugs. Examples include proteins that are encoded by the CYP450 genes which constitute a major subset of all drug metabolizing enzymes. Diagnostic testing of specific polymorphisms that are linked to increased or decreased drug metabolism may lead to more effective therapy and avoidance of adverse effects that are common and often life-threatening.

Lee KA, Williams B, Roza K, Ferguson H, David K, Eddleman K, Stone J, Edelmann L, Richard G, Gelb BD, Kornreich R. PTPN11 Analysis for the Prenatal Diagnosis of Noonan Syndrome in Fetuses with Abnormal Ultrasound Findings. Clin. Genet;: in press.

Scott SA, Edelmann L, Kornreich R, Desnick RJ. Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations. Am. J. Hum. Genet 2008; 82: 495-500.

Scott SA, Edelmann L, Desnick RJ, Erazo M, Kornreich R. CYP2C9, CYP2C19 and CYP2D6 Allele Frequencies in the Ashkenazi Jewish Population. Pharmacogenomics 2007; 7: 721-730.

Edelmann L, Hashmi G, Desnick RJ, Han Y, Kornreich R, Song Y. Cystic fibrosis carrier screening: Validation of a novel method using BeadChip technology. Genet. Med 2004; 6: 431-438.

Kornreich R, Desnick RJ, Edelmann L, Ekstein J. Premarital and prenatal screening for cystic fibrosis: Experience in the Ashkenazi Jewish population. Genet. Med 2004; 6: 415-420.

Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Griffith AJ, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Avraham KB. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J. Med. Genet 2003; 40: 767-772.

Lehrer S, Diamond EJ, Stone NN, Kornreich R, Stock RG, Stone M, Bajwa A, Droller MJ. Elevated serum triiodothyronine (t3) in Ashkenazi Jewish prostate cancer patients carrying the I1303K allele of the APC (adenopolyposis coli) gene. Urologic Oncology 2003; 21: 101-104.

Dong J, Edelmann L, Desnick RJ, Kornreich R, Bajwa AM. Familial Dysautonomia: Detection of the IKBKAP IVS20 +T>C and R696P mutations and frequencies among Ashkenazi Jews. Am. J. Med. Genet 2002; 110: 253-257.

Edelmann L, Kornreich R, Desnick RJ, Dong J. Carrier screening for Mucolipidosis Type IV in the American Ashkenazi Jewish population. Am. J. Hum. Genet 2002; 70: 1023-1027.

Edelmann L, Wasserman MP, Diaz GA, Sansaricq C, Snyderman SE, Kornreich R. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am. J. Hum. Genet 2001; 69: 863-868.

Dong J, Katz DR, Desnick RJ, Kornreich R, Eng CE. Non-radioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. Mol. Genet. and Metab 2001; 73: 160-163.