Prof. Kerem's research group
| Overview | ||
| Our research studies are in the filed of human genetics and in general involve molecular analyses to understand: | ||
| 1. | The basis for variability in disease expression and in response to therapy (modifier genes). | |
| 2. | The molecular basis for chromosomal instability and human genetic diseases, including cancer. | |
Specific research projects | ||
| 1. | Restoration of the CFTR function in cells carrying splicing mutation: | |
| a. | Developing a mouse model carrying CF splicing mutations. | |
| b. | Inhibition of cryptic exon inclusion by the antisense approach. | |
| c. | Screening for small molecules with a potential for CFTR functional restoration. | |
2. |
The molecular basis for variable response to aminoglycoside therapy: the role of the NMD pathway. |
|
3. |
DNA repair and chromosomal instability at common fragile sites. |
|
4. |
The molecular basis for chromosomal instability at common fragile sites: |
|
| a. | A molecular approach for identification of sequences conferring fragility. | |
| b. | A bioinformatics approach for identification of sequences and features conferring fragility. | |
5. |
The role of rare and common fragile sites in chromosomal instability in cancer. |
|
Academic activities | ||
| 1. | 2003-2006 | |
| Head, Department of Genetics, The Life Sciences Institute, The Hebrew University. | ||
| 2. | since 2001 | |
| Director, Israel National Center for Genomic Technologies. | ||
| 3. | since 2001 | |
| Director, Genomic and Bioinformatics Program for M.Sc. and Ph.D. students, The Hebrew University. | ||
| Reviewed articles in the last five years: | |
| 1. | Augarten A, Katznelson D, Dubenbaum R, Sela BA, Luski A, Szeinberg A, Kerem B,, Paret G, Sack J, Yahav Y (1998) Serum lipase levels pre and post Lundh meal:evaluation of exocrine pancreatic ststus in cystic fibrosis. Int J Clin Lab Res 28:226-229. |
| 2. | Benhorin J, Goldmit M, MacCluer JW, Blangero J, Goffen R, Leibovitch A, Rahat A, Wang Q, Medina A, Towbin JA, Kerem B (1998) Identification of a new SCN5A mutation associated with the long QT syndrome. Hum Mutation 12(1):72. |
| 3. | Mishmar D, Rahat A, Scherer SW, Nyakatura G, Hinzmann B, Kohwi Y, Mandel-Gutfroind Y, Lee JR, Drescher B, Sas DE, Margalit H, Platzer M, Weiss A, Tsui L-C, Rosenthal A, Kerem B. (1998) Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of an SV40 integration site. Proc Natl Acad Sci USA 95:8141-8146. |
| 4. | Guttenbach M, Nasssar N, Feichtinger W, Steinlein C, Nanda I, Wanner G, Kerem B, Schmid M (1998) An interstitial nucleolus organizer region in the long arm of chromosome 7: cytogenetic characterization and familial segregation. Cytogenet Cell Genet 80:104-112. |
| 5. | An RH, Wang XL, Kerem B, Benhorin J, Goldmit M, Kass RS (1998) A novel LQT-3 mutation affects Na channel activity through interactions between a and b1 subunits. Circulation Research 83:141-146. |
| 6. | Chiba-Falek O, Kerem E, Shoshani T, Aviram M, Augarten A, Bentur L, Tal A, Tullis E, Rahat A, Kerem B (1998) The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+1-kb C-T mutation. Genomics 53:276-283. |
| 7. | Gross-Tsur V, Manor O, Kerem B, Friedlander Y, Shalev RS (1998) Development al dyscalculia is a familial learning disability. Ann Neurology 44: 542-546. |
| 8. | Mishmar D, Mandel-Gutfreund Y, Margalit H, Rahat A, Kerem B (1999) Common fragile Sites: G band characteristics with an R-band. Am J Hum Genet 64:908-910. |
| 9. | Wilschanski M, Rivilin J, Cohen S, Augarten A, Blau H, Aviram M, Bentur L, Springer C, Vila Y, Branski D, Kerem B, Kerem E (1999) Clinical and genetic risk factors for cystic fibrosis-related liver diesases. Pediatrics 103:52-57. |
| 10. | Chiba-Falek O, Parad RB, Kerem E , Kerem B (1999) Variable levels of normal RNA in different organs carrying the CFTR splicing mutation 3849+10kb C->T. Am J Respir and Critical Care Medicine 159:1998-2002. |
| 11. | Wilschanski M, Famini C, Blau H, Rivlin J, Augarten A, Avital A, Kerem B and Kerem E (2000) A Pilot study of the effect of Gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations. Am. J. Respir. Crit. Care Med. 161: 860-865. |
| 12. | Benhorin J, Taub R, Goldmit M, Kerem B, Kass RS, Windman I, Medina A.(2000) Effects of Flecainide in patients With a new SCN5A mutation: mutation-specific therapy for long QT syndrome. Circulation 101:1698-1707. |
| 13. | Hellman A, Rahat A, Scherer SW, Darvasi A, Tsui L.-C, Kerem B (2000) Replication delay along FRA7H, a common fragle site on human chromosome 7, leads to chromosomal instability. Mol Cell Biol 20: 4420-4427. |
| 14. | Nissim-Rafinia M, Chiba-Falek O, Sharon G, Boss A, Kerem B (2000) Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations. Hum Mol Genet 9:1771-1778. |
| 15. | Abriel H, Wehrens XH, Benhorin J, Kerem B, Kass RS (2000) Molecular pharmacology of the sodium channel mutation D1790G linked to the long-QT syndrome Circulation 102:921-925. |
| 16. | Wilschanski M, Famini H, Strauss Liviatan N, Rivlin J, Blau H, BibiH, Bentur L, Yahav Y, Springer H, Kramer MR, Klar K, Ilani A, Kerem B, Kerem E. (2001) Nasal potential difference measurements in patients with atypical cystic fibrosis. Eur Respir J 17:1208-1215. |
| 17. | Shalev RS, Manor O, Kerem B, Ayali M, Badichi N, Friedlander Y, Gross-Tsur V (2001) Developmental dyscalculia is a familial learning disability. Journal of Learning Disabilities 34 (1): 59-65. |
| 18. | Hellman A, Zlotorynski E, Scherer SW, Cheung J, Vincent JB, Smith DI, Trakhtenbrot L and Kerem B (2001) A role for common fragile site induction in amplification of human oncogenes. Cancer Cell 1: 89-97. |
| 19. | Benhorin J, Moss AJ, Bak M, Zareba W, Kaufman E, Kerem B, Towbin JA, Priori S, Kass RS, Attali B, Brown A and Ficker E. (2002) Variable Expression of Long QT syndrome among gene carriers from families with five different HERG mutations. Ann Noninvasive Electrocardiol 7:40-46. |
| 20. | Zoossmann-Diskin AJ, Liron JA, Kerem B, Shohat M, Peleg L (2002) Protein electrophoretic markers in Israel: compilation of data and genetic affinities. Ann Hum Bio 29:142-175. |
| 21. | Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick J-A, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern L, Zhang O, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HHQ, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GAP, Korf BR, Quade B, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim H-G, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJT, Grzeschik K-H, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, D?hner H, D?hner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui L.-C. (2003) Human chromosome 7: DNA sequence and biology. Science 300:767-72. |
| 22. | Lerer B, Segman RH , Hamdan A , Kanyas K , Karni O, Kohn Y , Korner M , Lanktree M , Kaadan M, Turetsky N ,Yakir A , Kerem B, Macciardi F (2003) Genome scan of Arab Israeli families maps a schizophrenia susceptibility gene to chromosome 6q23 and supports a locus at chromosome 10q24. Molecular Psychiatry (in press) |
| 23. | Wilschanski M., Yahav Y, Yaacov Y, Blau H, Bentur L, Rivlin J, Aviram M, Bdolah-Abram T, Bebok Z, Shushi L, Kerem B, Kerem E. (2003).Correction of CFTR function by gentamicin in cystic fibrosis patients carrying stop mutations: a double blind placebo controlled crossover trial. New Engl J Med (in press). |