Ohad Birk

Ohad Birk, a physician-scientist, is a professor of human genetics, converging basic scientific research with effective clinical translational applications. He heads the clinical Genetics Institute at Soroka Medical Center[1] and served as the director of Israel's National Institute of Biotechnology in the Negev (NIBN) between 2016-2017,[2] both affiliated to Ben-Gurion University. Birk’s research lab deciphered the molecular basis and mechanism of more than 30 human diseases, including some of the most prevalent severe hereditary diseases in Arabs and in Jews, as well as two syndromes named after Birk.[3] He also implemented his scientific findings in massive carrier testing programs, conducive to 30% reduction in infant mortality rate in the Bedouin community,[4] as well as near-eradication of the most common severe hereditary diseases in Sephardic Jews.[5] Professor Birk is a recipient of numerous awards[6] and published in top scientific journals such as Nature, Nature Genetics, PNAS and American Journal of Human Genetics.[3] The translational impact of his work has been well echoed also in the lay press, from the NY Times[7] to Al Jazeera[8] and BBC World.[9]

Ohad Birk
Born
rehovot
NationalityIsrael
Scientific career
FieldsMedicine
InstitutionsBen-Gurion University of the Negev
Doctoral advisorIrun Cohen
Websitein.bgu.ac.il/en/nibn/Pages/staff/Ohad-Birk.aspx/

Biography

Personal

Born and raised in Rehovot, Israel. Son of Prof. Meir Birk and Prof. Yehudith Birk. Brother of Prof. Yitzhak (Tsahi) Birk.[10][11] Married to Prof. Ruth Birk. Father of Yonatan and Michael. Birk is amateur pianist and composer.

Professional training and early studies

Following MD studies at Tel Aviv University, military service as a medical officer (Major) in the IDF and residency in Pediatrics at Sheba Medical Center, Birk did his PhD at the Weizmann Institute with Irun Cohen,[12] delineating hsp60 as a crucial autoantigen in type 1 diabetes and allograft rejection, effective in their prevention.[13][14][15] He then went on to do his training in clinical human genetics and post-doctorate with Heiner Westphal at the NIH, unraveling LHX9 as a gene critical for mammalian gonad formation.[16]

Research

Birk’s team deciphered the molecular basis and mechanism of more than 30 human diseases, including some of the most prevalent severe hereditary diseases in Arabs and in Jews worldwide.[3][4][5] Among the many diseases discovered are Progressive Cerebello Cerebral Atrophy (PCCA) and PCCA2, the two most common severe genetic diseases in Sephardic Jews,[3][5] the first gene for near-sightedness, as well as two genetic syndromes named after professor Birk.[3] Human Genetics studies in the Birk lab (named after philanthropist Morris Kahn) span from generation of novel bioinformatics tool,[17] to the clinical delineation and molecular identification of novel disease-associated genes, to in-depth developmental biology and molecular biochemistry studies discovering novel molecular pathways in health and disease. Human diseases whose molecular basis was discovered in the Birk lab include:

  • Birk - Barel syndrome: genomic imprinting mental retardation syndrome due to KCN9 mutation.[18]
  • Birk - Flusser syndrome: dysmorphic mental retardation due to FRMD4A mutation.[19]
  • PCCA – Progressive Cerebello-Cerebral Atrophy: due to SEPSECS mutation, precluding selenium incorporation. 1:40 Iraqi Jews and 1:40 Moroccan Jews is a carrier. Routine free carrier testing in Israel as of 2011.[20]
  • PCCA2 – Progressive Cerebello-Cerebral Atrophy type 2: due to VPS53 mutation, abrogating function of the gARP complex. 1:37 Moroccan Jews is a carrier. Routine free carrier testing in Israel as of 2016.[21]
  • Myopia: the first identification of monogenic non-syndromic myopia gene: Near-sightedness caused by a mutation in LEPREL1, encoding Prolyl 3-hydroxylase 2.[22]
  • UNC80-associated syndrome of hypotonia, intellectual disability, dyskinesia, dysmorphism.[23]
  • Microcephaly caused by ALFY mutation – delineating novel pathway controlling Wnt signaling.[24]
  • CCDC174-associated syndrome of hypotonia and psychomotor retardation – caused by a founder mutation shared by Bedouins and Ethiopian Jews; delineating CCDC174 as a novel component of the exon junction complex.[25]
  • Foveal hypoplasia caused by SLC38A8 (1:10 Mumbai Indian Jews is a carrier).[26]
  • Adams Oliver syndrome: caused by EOGT mutation (discovered in parallel to and independent of the group of Alkuraya)[27]
  • Lethal congenital contractural syndrome (arthrogryposis) type 2 (LCCS2) - caused by a mutation in ERBB3 (Her3).[28]
  • Lethal congenital contractural syndrome (arthrogryposis) type 3 (LCCS3) - caused by a mutation in PIP5K1C of the phosphatidylinositol pathway.[29]
  • Lethal congenital contractural syndrome (arthrogryposis) type 4 (LCCS4) - caused by a mutation in MYBPC1.[30]
  • Autosomal recessive osteogenesis imperfecta (OI) caused by mutation in TMEM38B (discovered in parallel to and independent of the group of Alkuraya)[31]
  • Meconium ileus (non-CF) caused by inactivating mutation in GUCY2C, encoding the CFTR-activating guanylate cyclase C.[32]
  • Hyperchlorhidrosis caused by mutation in CA12, enclding carbonic anhydrase XII.[33]
  • Connatal Pelizaeus-Merzbacher-like disease (PMLD) caused by AIMP1/p43 mutation.[34]
  • Mitochondrial complex III deficiency due to UQCRQ mutation[35]
  • Congenital cataract (recessive) due to CRYBB1 mutation.[36]
  • Microphthalmia / anophthalmia (non-syndromic) caused by CHX10 mutation[37]
  • Infantile neuroaxonal dystrophy: demonstrating that it is a storage disease caused by a mutation in PLA2G6, encoding phospholipase A2 group IV (discovered parallel to and independent of the group of Hayflick).[38]
  • Seborrhea-like dermatitis with psoriasis-like elements caused by mutation in ZNF750, a novel master transcription factor controlling skin barrier formation.[39]

References
  1. https://hospitals.clalit.co.il/soroka/he/med-units/Pages/genetic-inst.aspx
  2. http://in.bgu.ac.il/en/nibn/Pages/Administrative%20and%20Management%20Team.aspx
  3. "Ohad Birk - Publications List". publicationslist.org. Retrieved 2017-02-03.
  4. "Fighting Genetic Disease Among The Bedouins". Jewish Week. Retrieved 2017-02-03.
  5. "PressReader.com - Connecting People Through News". www.pressreader.com. Retrieved 2017-02-03.
  6. http://in.bgu.ac.il/en/Pages/news/KKL-Birk.aspx
  7. Kraft, Dina (2006-03-21). "A Hunt for Genes That Betrayed a Desert People". The New York Times. ISSN 0362-4331. Retrieved 2017-02-03.
  8. webmaster (2013-06-18). "Cousin marriages: tradition versus taboo". The Stream - Al Jazeera English. Retrieved 2017-02-03.
  9. TheRealNews (2012-04-28), The Doha Debates, retrieved 2017-02-03
  10. https://www.haaretz.co.il/1.1914085
  11. https://jwa.org/encyclopedia/article/birk-yehudith
  12. https://www.weizmann.ac.il/immunology/iruncohen/sites/immunology.iruncohen/files/uploads/reprints/1996/313.pdf
  13. Birk, O. S.; Douek, D. C.; Elias, D.; Takacs, K.; Dewchand, H.; Gur, S. L.; Walker, M. D.; van der Zee, R.; Cohen, I. R. (1996-02-06). "A role of Hsp60 in autoimmune diabetes: analysis in a transgenic model". Proceedings of the National Academy of Sciences of the United States of America. 93 (3): 1032–1037. Bibcode:1996PNAS...93.1032B. doi:10.1073/pnas.93.3.1032. ISSN 0027-8424. PMC 40025. PMID 8577709.
  14. Birk, O. S.; Elias, D.; Weiss, A. S.; Rosen, A.; van-der Zee, R.; Walker, M. D.; Cohen, I. R. (1996-04-01). "NOD mouse diabetes: the ubiquitous mouse hsp60 is a beta-cell target antigen of autoimmune T cells". Journal of Autoimmunity. 9 (2): 159–166. doi:10.1006/jaut.1996.0019. ISSN 0896-8411. PMID 8738959.
  15. Birk, O. S.; Gur, S. L.; Elias, D.; Margalit, R.; Mor, F.; Carmi, P.; Bockova, J.; Altmann, D. M.; Cohen, I. R. (1999-04-27). "The 60-kDa heat shock protein modulates allograft rejection". Proceedings of the National Academy of Sciences of the United States of America. 96 (9): 5159–5163. Bibcode:1999PNAS...96.5159B. doi:10.1073/pnas.96.9.5159. ISSN 0027-8424. PMC 21833. PMID 10220435.
  16. Birk, O. S.; Casiano, D. E.; Wassif, C. A.; Cogliati, T.; Zhao, L.; Zhao, Y.; Grinberg, A.; Huang, S.; Kreidberg, J. A. (2000-02-24). "The LIM homeobox gene Lhx9 is essential for mouse gonad formation". Nature. 403 (6772): 909–913. Bibcode:2000Natur.403..909B. doi:10.1038/35002622. ISSN 0028-0836. PMID 10706291.
  17. https://fohs.bgu.ac.il/s2g/csiomim/contact.php
  18. "KCNK9 imprinting syndrome".
  19. Fine, D.; Flusser, H.; Markus, B.; Shorer, Z.; Gradstein, L.; Khateeb, S.; Langer, Y.; Narkis, G.; Birk, R.; Galil, A.; Shelef, I.; Birk, O. S. (2014). "A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A". European Journal of Human Genetics. 23 (12): 1729–1734. doi:10.1038/ejhg.2014.241. PMC 4795192. PMID 25388005.
  20. Agamy, O.; Ben Zeev, B.; Lev, D.; Marcus, B.; Fine, D.; Su, D.; Narkis, G.; Ofir, R.; Hoffmann, C.; Leshinsky-Silver, E.; Flusser, H.; Sivan, S.; Söll, D.; Lerman-Sagie, T.; Birk, O. S. (2010). "Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy". American Journal of Human Genetics. 87 (4): 538–544. doi:10.1016/j.ajhg.2010.09.007. PMC 2948803. PMID 20920667.
  21. Feinstein, Miora; Flusser, Hagit; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Lev, Dorit; Agamy, Orly; Cohen, Idan; Kadir, Rotem; Sivan, Sara; Leshinsky-Silver, Esther; Markus, Barak; Birk, Ohad S (May 2014). "VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)". Journal of Medical Genetics. 51 (5): 303–308. doi:10.1136/jmedgenet-2013-101823. PMID 24577744.
  22. Mordechai, S.; Gradstein, L.; Pasanen, A.; Ofir, R.; El Amour, K.; Levy, J.; Belfair, N.; Lifshitz, T.; Joshua, S.; Narkis, G.; Elbedour, K.; Myllyharju, J.; Birk, O. S. (2011). "High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2". American Journal of Human Genetics. 89 (3): 438–445. doi:10.1016/j.ajhg.2011.08.003. PMC 3169819. PMID 21885030.
  23. Perez, Y.; Kadir, R.; Volodarsky, M.; Noyman, I.; Flusser, H.; Shorer, Z.; Gradstein, L.; Birnbaum, R. Y.; Birk, O. S. (2016). "UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN". Journal of Medical Genetics. 53 (6): 397–402. doi:10.1136/jmedgenet-2015-103352. PMID 26545877.
  24. Kadir, Rotem; Harel, Tamar; Markus, Barak; Perez, Yonatan; Bakhrat, Anna; Cohen, Idan; Volodarsky, Michael; Feintsein-Linial, Miora; Chervinski, Elana; Zlotogora, Joel; Sivan, Sara; Birnbaum, Ramon Y.; Abdu, Uri; Shalev, Stavit; Birk, Ohad S. (2016). "ALFY-Controlled DVL3 Autophagy Regulates WNT Signaling, Determining Human Brain Size". PLOS Genetics. 12 (3): e1005919. doi:10.1371/journal.pgen.1005919. PMC 4805177. PMID 27008544.
  25. Volodarsky, Michael; Lichtig, Hava; Leibson, Tom; Sadaka, Yair; Kadir, Rotem; Perez, Yonatan; Liani-Leibson, Keren; Gradstein, Libe; Shaco-Levy, Ruthy; Shorer, Zamir; Frank, Dale; Birk, Ohad S. (15 November 2015). "CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay". Human Molecular Genetics. 24 (22): 6485–6491. doi:10.1093/hmg/ddv357. PMID 26358778.
  26. Perez, Y.; Gradstein, L.; Flusser, H.; Markus, B.; Cohen, I.; Langer, Y.; Marcus, M.; Lifshitz, T.; Kadir, R.; Birk, O. S. (2013). "Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation". European Journal of Human Genetics. 22 (5): 703–706. doi:10.1038/ejhg.2013.212. PMC 3992574. PMID 24045842.
  27. Cohen, I.; Silberstein, E.; Perez, Y.; Landau, D.; Elbedour, K.; Langer, Y.; Kadir, R.; Volodarsky, M.; Sivan, S.; Narkis, G.; Birk, O. S. (2013). "Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase". European Journal of Human Genetics. 22 (3): 374–378. doi:10.1038/ejhg.2013.159. PMC 3925282. PMID 23860037.
  28. Narkis, G.; Ofir, R.; Manor, E.; Landau, D.; Elbedour, K.; Birk, O. S. (2007). "Lethal Congenital Contractural Syndrome Type 2 (LCCS2) is Caused by a Mutation in ERBB3 (Her3), a Modulator of the Phosphatidylinositol-3-Kinase/Akt Pathway". American Journal of Human Genetics. 81 (3): 589–595. doi:10.1086/520770. PMC 1950827. PMID 17701904.
  29. Narkis, G.; Ofir, R.; Landau, D.; Manor, E.; Volokita, M.; Hershkowitz, R.; Elbedour, K.; Birk, O. S. (2007). "Lethal Contractural Syndrome Type 3 (LCCS3) is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway". American Journal of Human Genetics. 81 (3): 530–539. doi:10.1086/520771. PMC 1950840. PMID 17701898.
  30. Markus, B.; Narkis, G.; Landau, D.; Birk, R. Z.; Cohen, I.; Birk, O. S. (2012). "Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1". Human Mutation. 33 (10): 1435–8. doi:10.1002/humu.22122. PMID 22610851.
  31. Volodarsky, Michael; Markus, Barak; Cohen, Idan; Staretz-Chacham, Orna; Flusser, Hagit; Landau, Daniella; Shelef, Ilan; Langer, Yshaia; Birk, Ohad S. (January 2013). "A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta". Human Mutation. 34 (4): 582–6. doi:10.1002/humu.22274. PMID 23316006.
  32. Romi, H.; Cohen, I.; Landau, D.; Alkrinawi, S.; Yerushalmi, B.; Hershkovitz, R.; Newman-Heiman, N.; Cutting, G. R.; Ofir, R.; Sivan, S.; Birk, O. S. (2012). "Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C". American Journal of Human Genetics. 90 (5): 893–899. doi:10.1016/j.ajhg.2012.03.022. PMC 3376486. PMID 22521417.
  33. Feldshtein, M.; Elkrinawi, S.; Yerushalmi, B.; Marcus, B.; Vullo, D.; Romi, H.; Ofir, R.; Landau, D.; Sivan, S.; Supuran, C. T.; Birk, O. S. (2010). "Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII". American Journal of Human Genetics. 87 (5): 713–720. doi:10.1016/j.ajhg.2010.10.008. PMC 2978943. PMID 21035102.
  34. Feinstein, M.; Markus, B.; Noyman, I.; Shalev, H.; Flusser, H.; Shelef, I.; Liani-Leibson, K.; Shorer, Z.; Cohen, I.; Khateeb, S.; Sivan, S.; Birk, O. S. (2011). "Response to Biancheri et al. And Boepsflug-Tanguy et al.: AIMP1/P43 Connatal PMLD". American Journal of Human Genetics. 88 (3): 393–395. doi:10.1016/j.ajhg.2011.01.020. PMC 3059423.
  35. Barel, O.; Shorer, Z.; Flusser, H.; Ofir, R.; Narkis, G.; Finer, G.; Shalev, H.; Nasasra, A.; Saada, A.; Birk, O. S. (2008). "Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ". American Journal of Human Genetics. 82 (5): 1211–1216. doi:10.1016/j.ajhg.2008.03.020. PMC 2427202. PMID 18439546.
  36. Cohen, David; Bar-Yosef, Udy; Levy, Jaime; Gradstein, Libe; Belfair, Nadav; Ofir, Rivka; Joshua, Sarah; Lifshitz, Tova; Carmi, Rivka; Birk, Ohad S. (2007). "HomozygousCRYBB1Deletion Mutation Underlies Autosomal Recessive Congenital Cataract". Investigative Ophthalmology & Visual Science. 48 (5): 2208–13. doi:10.1167/iovs.06-1019. PMID 17460281.
  37. Bar-Yosef, U.; Abuelaish, I.; Harel, T.; Hendler, N.; Ofir, R.; Birk, O. S. (2004). "CHX10 mutations cause non-syndromic microphthalmia/ Anophthalmia in Arab and Jewish kindreds". Human Genetics. 115 (4): 302–9. doi:10.1007/s00439-004-1154-2. PMID 15257456.
  38. Khateeb, S.; Flusser, H.; Ofir, R.; Shelef, I.; Narkis, G.; Vardi, G.; Shorer, Z.; Levy, R.; Galil, A.; Elbedour, K.; Birk, O. S. (2006). "PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy". American Journal of Human Genetics. 79 (5): 942–948. doi:10.1086/508572. PMC 1698558. PMID 17033970.
  39. Cohen, Idan; Birnbaum, Ramon Y.; Leibson, Keren; Taube, Ran; Sivan, Sara; Birk, Ohad S.; Brandner, Johanna M. (24 August 2012). "ZNF750 Is Expressed in Differentiated Keratinocytes and Regulates Epidermal Late Differentiation Genes". PLOS ONE. 7 (8): e42628. Bibcode:2012PLoSO...742628C. doi:10.1371/journal.pone.0042628. PMC 3427353. PMID 22936986.

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Music by Ohad Birk
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