# Ohad Birk

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**Ohad Birk** ([Hebrew](/source/Hebrew_language): אוהד בירק) a physician-scientist, is a [professor](/source/Professor) of human [genetics](/source/Genetics), converging basic scientific research with effective clinical [translational applications](/source/Translational_research). 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](/source/Genetic_disorder) in Arabs and in Jews, as well as three syndromes named after Birk.[1] He also implemented his scientific findings in massive [carrier testing](/source/Carrier_testing) programs, conducive to 30% reduction in [infant mortality](/source/Infant_mortality) rate in the [Bedouin community](/source/Negev_Bedouin),[2] as well as near-eradication of two of the most common severe hereditary diseases in [Sephardic Jews](/source/Sephardi_Jews).[3] Birk heads the clinical Genetics Institute at Soroka Medical Center[4] and the Morris Kahn Laboratory of Human Genetics as well as Israel's National Research Center for Orphan / Rare Diseases at [Ben Gurion University](/source/Ben_Gurion_University), and served as director of Israel's National Institute of Biotechnology in the Negev (NIBN) between 2016 and 2017.[5]

Professor Birk is a recipient of numerous awards[6] and published in top scientific journals such as [Nature](/source/Nature_(journal)), Nature Genetics, [PNAS](/source/PNAS) and [American Journal of Human Genetics](/source/American_Journal_of_Human_Genetics).[1] The translational impact of his work has been well echoed also in the lay press, from the [NY Times](/source/NY_Times)[7] to [Al Jazeera](/source/Al_Jazeera_English)[8][9] and [BBC World](/source/BBC_World).[10]

## Biography

### Personal

Born and raised in [Rehovot](/source/Rehovot), [Israel](/source/Israel). Son of Prof. Meir Birk and Prof. [Yehudith Birk](/source/Yehudith_Birk). Brother of Prof. Yitzhak (Tsahi) Birk.[11][12] Married to Prof. Ruth Birk. Father of Yonatan and Michael. Birk is amateur [pianist](/source/Pianist) and [composer](/source/Composer).[citation needed]

### Professional training and early studies

Following [MD](/source/Doctor_of_Medicine) studies at [Tel Aviv University](/source/Tel_Aviv_University), [military](/source/Military) service as a [medical officer](/source/Physician) ([Major](/source/Major_(rank))) in the [IDF](/source/Israel_Defense_Forces) and residency in Pediatrics at [Sheba Medical Center](/source/Sheba_Medical_Center), Birk did his PhD at the [Weizmann Institute](/source/Weizmann_Institute_of_Science) with [Irun Cohen](/source/Irun_Cohen),[13] delineating [hsp60](/source/HSP60) as a crucial [autoantigen](/source/Autoantigen) in [type 1 diabetes](/source/Type_1_diabetes) and [allograft](/source/Allograft) rejection, effective in their prevention.[14][15][16] He then went on to do his training in clinical [human genetics](/source/Human_genetics) and post-doctorate with Heiner Westphal at the [NIH](/source/NIH), unraveling LHX9 as a gene critical for [mammalian gonad](/source/Mammalian_reproduction) formation.[17]

### 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.[1][2][3] Among the many diseases discovered are Progressive Cerebello Cerebral Atrophy (PCCA) and PCCA2, two of the most common severe genetic diseases in Sephardic Jews,[1][3] the first gene for near-sightedness, as well as three genetic syndromes named after professor Birk.[1] Human Genetics studies in the Birk lab (named after [philanthropist](/source/Philanthropist) [Morris Kahn](/source/Morris_Kahn)) span from generation of novel [bioinformatics](/source/Bioinformatics) tools,[18] to the clinical delineation and molecular identification of novel disease-associated genes, to in-depth [developmental biology](/source/Developmental_biology) and molecular [biochemistry](/source/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](/source/Birk-Barel_syndrome): [genomic imprinting](/source/Genomic_imprinting) mental retardation syndrome due to KCN9 mutation.[19]
- Birk - Flusser syndrome: dysmorphic mental retardation due to FRMD4A mutation.[20]
- 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.[21]
- 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.[22]
- Myopia: the first identification of monogenic non-syndromic myopia gene: Near-sightedness caused by a mutation in LEPREL1, encoding Prolyl 3-hydroxylase 2.[23]
- UNC80-associated syndrome of [hypotonia](/source/Hypotonia), intellectual disability, dyskinesia, dysmorphism.[24]
- Microcephaly caused by WDFY3 (ALFY) mutation – delineating novel pathway controlling Wnt signaling.[25]
- CCDC174-associated syndrome of hypotonia and [psychomotor retardation](/source/Psychomotor_retardation) – caused by a founder mutation shared by Bedouins and Ethiopian Jews; delineating CCDC174 as a novel component of the exon junction complex.[26]
- Foveal hypoplasia caused by SLC38A8 (1:10 Mumbai Indian Jews is a carrier).[27]
- Adams Oliver syndrome: caused by EOGT mutation (discovered in parallel to and independent of the group of Alkuraya)[28]
- Lethal congenital contractural syndrome (arthrogryposis) type 2 (LCCS2) - caused by a mutation in ERBB3 (Her3).[29]
- Lethal congenital contractural syndrome (arthrogryposis) type 3 (LCCS3) - caused by a mutation in PIP5K1C of the phosphatidylinositol pathway.[30]
- Lethal congenital contractural syndrome (arthrogryposis) type 4 (LCCS4) - caused by a mutation in MYBPC1.[31]
- Autosomal recessive [osteogenesis imperfecta](/source/Osteogenesis_imperfecta) (OI) caused by mutation in TMEM38B (discovered in parallel to and independent of the group of Alkuraya)[32]
- Meconium ileus (non-CF) caused by inactivating mutation in GUCY2C, encoding the CFTR-activating guanylate cyclase C.[33]
- Hyperchlorhidrosis caused by mutation in CA12, encoding carbonic anhydrase XII.[34]
- Connatal Pelizaeus-Merzbacher-like disease (PMLD) caused by AIMP1/p43 mutation.[35]
- Mitochondrial complex III deficiency due to UQCRQ mutation[36]
- Congenital cataract (recessive) due to CRYBB1 mutation.[37]
- Microphthalmia / anophthalmia (non-syndromic) caused by CHX10 mutation[38]
- 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).[39]
- Seborrhea-like dermatitis with psoriasis-like elements caused by mutation in ZNF750, a novel master transcription factor controlling skin barrier formation.[40]
- A neurological disorder caused by DEGS mutation (discovered in parallel to and independent of the group of Pant et al.)[41]
- A microcephaly syndrome caused by mutations in the microtubule-associated protein MAP11 (C7orf43, TRAPPC14, MCPH25).[42]
- Progressive hereditary spastic paraplegia caused by KY mutation[43]
- A syndrome of hypotonia and global neurodevelopmental delay caused by PAX7 mutation.[44]
- Intellectual disability syndrome caused by RSRC1 mutation, causing aberrant splicing and transcription, downregulating IGFBP3.[45]
- Bardet Biedl syndrome caused by mutation in SCAPER[46]
- A novel neurological disease caused by SEC31A mutation, affecting endoplasmic reticulum homeostasis.[47]
- Nocturnal atrial fibrillation caused by gain of function mutation in KCND2, encoding pore-forming alpha subunit of the cardiac Kv4.2 potassium channel.[48]
- Gout caused by aberrant D-lactate dehydrogenase[49]
- [Birk–Landau-Perez syndrome](/source/Birk%E2%80%93Landau-Perez_syndrome), a novel cerebro-renal syndrome caused by [SLC30A9](/source/SLC30A9) mutations.[50]

## References

1. ["Ohad Birk - Publications List"](http://publicationslist.org/ohad.birk). *publicationslist.org*. Retrieved 2017-02-03.

1. ["Fighting Genetic Disease Among The Bedouins"](http://www.thejewishweek.com/special-sections/healthcare/fighting-genetic-disease-among-bedouins). *Jewish Week*. Retrieved 2017-02-03.

1. ["BGU researchers identify mutation causing genetic disease common in Moroccan Jews"](https://www.pressreader.com/israel/jerusalem-post/20140310/281732677418066). Retrieved 2017-02-03. – via PressReader.

1. ["המכון לגנטיקה של האדם | סורוקה מרכז רפואי אוניברסיטאי"](https://hospitals.clalit.co.il/soroka/he/med-units/Pages/genetic-inst.aspx). *hospitals.clalit.co.il*

1. ["Leading the Way From Basic to Applied Innovative Research"](http://in.bgu.ac.il/en/nibn/Pages/Administrative%20and%20Management%20Team.aspx). in.bgu.ac.il. Retrieved 19 February 2021.

1. ["Ben-Gurion University of the Negev - Prof. Ohad Birk Awarded the 2014 KKL Blumberg Prize for Excellence in Medical Research"](http://in.bgu.ac.il/en/Pages/news/KKL-Birk.aspx)

1. Kraft, Dina (2006-03-21). ["A Hunt for Genes That Betrayed a Desert People"](https://www.nytimes.com/2006/03/21/science/21bedo.html). *The New York Times*. [ISSN 0362-4331](https://www.worldcat.org/issn/0362-4331). Retrieved 2017-02-03.

1. ["The Stream - Cousin marriages: tradition versus taboo"](https://www.youtube.com/watch?v=Cd5lgBgFBXs). Al Jazeera English. 18 June 2013.

1. webmaster (2013-06-18). ["Cousin marriages: tradition versus taboo"](http://stream.aljazeera.com/story/201306180036-0022835). *The Stream - Al Jazeera English*. Retrieved 2017-02-03.

1. TheRealNews (2012-04-28), ["The Doha Debates"](https://www.youtube.com/watch?v=8P9AOrryvqs), retrieved 2017-02-03

1. [""אישה, אם ומדענית""](https://www.haaretz.co.il/1.1914085) (in Hebrew). *Haaretz הארץ*. Retrieved 20 February 2021.

1. ["Yehudith Birk"](https://jwa.org/encyclopedia/article/birk-yehudith). *Jewish Women's Archive*. Retrieved 20 February 2021.

1. Birk, Ohad S.; Douek, Daniel C.; Elias, Dana; Takacs, Katalin; Dewchand, Hamlata; Gur, Sara L.; Walker, Michael D.; Van Der Zee, Ruurd; Cohen, Irun R.; Altmann, Daniel M. (February 1996). ["A role of Hsp60 in autoimmune diabetes: Analysis in a transgenic model"](https://www.weizmann.ac.il/dept/irb/iruncohen/sites/immunology.iruncohen/files/uploads/reprints/1996/313.pdf). *Proceedings of the National Academy of Sciences of the United States of America*. **93** (3): 1032–1037. [Bibcode:1996PNAS...93.1032B](https://ui.adsabs.harvard.edu/abs/1996PNAS...93.1032B). [doi:10.1073/pnas.93.3.1032](https://doi.org/10.1073/pnas.93.3.1032). [PMC 40025](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC40025). [PMID 8577709](https://pubmed.ncbi.nlm.nih.gov/8577709). Retrieved 30 June 2024.

1. 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](https://ui.adsabs.harvard.edu/abs/1996PNAS...93.1032B). [doi:10.1073/pnas.93.3.1032](https://doi.org/10.1073/pnas.93.3.1032). [ISSN 0027-8424](https://www.worldcat.org/issn/0027-8424). [PMC 40025](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC40025). [PMID 8577709](https://pubmed.ncbi.nlm.nih.gov/8577709)

1. 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](https://doi.org/10.1006/jaut.1996.0019). [ISSN 0896-8411](https://www.worldcat.org/issn/0896-8411). [PMID 8738959](https://pubmed.ncbi.nlm.nih.gov/8738959)

1. 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](https://ui.adsabs.harvard.edu/abs/1999PNAS...96.5159B). [doi:10.1073/pnas.96.9.5159](https://doi.org/10.1073/pnas.96.9.5159). [ISSN 0027-8424](https://www.worldcat.org/issn/0027-8424). [PMC 21833](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC21833). [PMID 10220435](https://pubmed.ncbi.nlm.nih.gov/10220435)

1. 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](https://ui.adsabs.harvard.edu/abs/2000Natur.403..909B). [doi:10.1038/35002622](https://doi.org/10.1038/35002622). [ISSN 0028-0836](https://www.worldcat.org/issn/0028-0836). [PMID 10706291](https://pubmed.ncbi.nlm.nih.gov/10706291). [S2CID 4408338](https://api.semanticscholar.org/CorpusID:4408338)

1. ["Contact"](https://fohs.bgu.ac.il/s2g/csiomim/contact.php). fohs.bgu.ac.il. Retrieved 20 February 2021.

1. ["KCNK9 imprinting syndrome"](https://medlineplus.gov/genetics/condition/kcnk9-imprinting-syndrome/)

1. 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](https://doi.org/10.1038/ejhg.2014.241). [PMC 4795192](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795192). [PMID 25388005](https://pubmed.ncbi.nlm.nih.gov/25388005)

1. 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](https://doi.org/10.1016/j.ajhg.2010.09.007). [PMC 2948803](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2948803). [PMID 20920667](https://pubmed.ncbi.nlm.nih.gov/20920667)

1. 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](https://doi.org/10.1136/jmedgenet-2013-101823). [PMID 24577744](https://pubmed.ncbi.nlm.nih.gov/24577744). [S2CID 8752023](https://api.semanticscholar.org/CorpusID:8752023)

1. 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](https://doi.org/10.1016/j.ajhg.2011.08.003). [PMC 3169819](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3169819). [PMID 21885030](https://pubmed.ncbi.nlm.nih.gov/21885030)

1. 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](https://doi.org/10.1136/jmedgenet-2015-103352). [PMID 26545877](https://pubmed.ncbi.nlm.nih.gov/26545877). [S2CID 206998099](https://api.semanticscholar.org/CorpusID:206998099)

1. 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). [doi:10.1371/journal.pgen.1005919](https://doi.org/10.1371/journal.pgen.1005919). [PMC 4805177](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805177). [PMID 27008544](https://pubmed.ncbi.nlm.nih.gov/27008544)

1. 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](https://doi.org/10.1093/hmg/ddv357). [PMID 26358778](https://pubmed.ncbi.nlm.nih.gov/26358778)

1. 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](https://doi.org/10.1038/ejhg.2013.212). [PMC 3992574](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992574). [PMID 24045842](https://pubmed.ncbi.nlm.nih.gov/24045842)

1. 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](https://doi.org/10.1038/ejhg.2013.159). [PMC 3925282](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925282). [PMID 23860037](https://pubmed.ncbi.nlm.nih.gov/23860037)

1. 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](https://doi.org/10.1086/520770). [PMC 1950827](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950827). [PMID 17701904](https://pubmed.ncbi.nlm.nih.gov/17701904)

1. 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](https://doi.org/10.1086/520771). [PMC 1950840](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950840). [PMID 17701898](https://pubmed.ncbi.nlm.nih.gov/17701898)

1. 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](https://doi.org/10.1002/humu.22122). [PMID 22610851](https://pubmed.ncbi.nlm.nih.gov/22610851). [S2CID 36875250](https://api.semanticscholar.org/CorpusID:36875250)

1. 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](https://doi.org/10.1002/humu.22274). [PMID 23316006](https://pubmed.ncbi.nlm.nih.gov/23316006). [S2CID 6036441](https://api.semanticscholar.org/CorpusID:6036441)

1. 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](https://doi.org/10.1016/j.ajhg.2012.03.022). [PMC 3376486](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376486). [PMID 22521417](https://pubmed.ncbi.nlm.nih.gov/22521417)

1. 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](https://doi.org/10.1016/j.ajhg.2010.10.008). [PMC 2978943](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978943). [PMID 21035102](https://pubmed.ncbi.nlm.nih.gov/21035102)

1. 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](https://doi.org/10.1016/j.ajhg.2011.01.020). [PMC 3059423](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059423)

1. 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](https://doi.org/10.1016/j.ajhg.2008.03.020). [PMC 2427202](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427202). [PMID 18439546](https://pubmed.ncbi.nlm.nih.gov/18439546)

1. 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](https://doi.org/10.1167/iovs.06-1019). [PMID 17460281](https://pubmed.ncbi.nlm.nih.gov/17460281)

1. 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](https://doi.org/10.1007/s00439-004-1154-2). [PMID 15257456](https://pubmed.ncbi.nlm.nih.gov/15257456). [S2CID 28981190](https://api.semanticscholar.org/CorpusID:28981190)

1. 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](https://doi.org/10.1086/508572). [PMC 1698558](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698558). [PMID 17033970](https://pubmed.ncbi.nlm.nih.gov/17033970)

1. 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). [Bibcode:2012PLoSO...742628C](https://ui.adsabs.harvard.edu/abs/2012PLoSO...742628C). [doi:10.1371/journal.pone.0042628](https://doi.org/10.1371/journal.pone.0042628). [PMC 3427353](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3427353). [PMID 22936986](https://pubmed.ncbi.nlm.nih.gov/22936986)

1. Dolgin, Vadim; Straussberg, Rachel; Xu, Ruijuan; Mileva, Izolda; Yogev, Yuval; Khoury, Raed; Konen, Osnat; Barhum, Yael; Zvulunov, Alex; Mao, Cungui; Birk, Ohad S. (2019). "DEGS1 variant causes neurological disorder". *European Journal of Human Genetics*. **27** (11): 1668–1676. [doi:10.1038/s41431-019-0444-z](https://doi.org/10.1038/s41431-019-0444-z). [ISSN 1476-5438](https://www.worldcat.org/issn/1476-5438). [PMC 6871177](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871177). [PMID 31186544](https://pubmed.ncbi.nlm.nih.gov/31186544)

1. Perez, Yonatan; Bar-Yaacov, Reut; Kadir, Rotem; Wormser, Ohad; Shelef, Ilan; Birk, Ohad S.; Flusser, Hagit; Birnbaum, Ramon Y. (2019). "Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish". *Brain: A Journal of Neurology*. **142** (3): 574–585. [doi:10.1093/brain/awz004](https://doi.org/10.1093/brain/awz004). [ISSN 1460-2156](https://www.worldcat.org/issn/1460-2156). [PMC 6391606](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391606). [PMID 30715179](https://pubmed.ncbi.nlm.nih.gov/30715179)

1. Yogev, Yuval; Perez, Yonatan; Noyman, Iris; Madegem, Anwar Abu; Flusser, Hagit; Shorer, Zamir; Cohen, Eugene; Kachko, Leonid; Michaelovsky, Analia; Birk, Ruth; Koifman, Arie; Drabkin, Max; Wormser, Ohad; Halperin, Daniel; Kadir, Rotem; Birk, Ohad S. (2017). "Progressive hereditary spastic paraplegia caused by a homozygous KY mutation". *European Journal of Human Genetics*. **25** (8): 966–972. [doi:10.1038/ejhg.2017.85](https://doi.org/10.1038/ejhg.2017.85). [ISSN 1476-5438](https://www.worldcat.org/issn/1476-5438). [PMC 5567152](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567152). [PMID 28488683](https://pubmed.ncbi.nlm.nih.gov/28488683)

1. Proskorovski-Ohayon, Regina; Kadir, Rotem; Michalowski, Analia; Flusser, Hagit; Perez, Yonatan; Hershkovitz, Eli; Sivan, Sara; Birk, Ohad S. (2017). "PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay". *Human Mutation*. **38** (12): 1671–1683. [doi:10.1002/humu.23310](https://doi.org/10.1002/humu.23310). [ISSN 1098-1004](https://www.worldcat.org/issn/1098-1004). [PMID 28779497](https://pubmed.ncbi.nlm.nih.gov/28779497). [S2CID 23116007](https://api.semanticscholar.org/CorpusID:23116007)

1. Perez, Yonatan; Menascu, Shay; Cohen, Idan; Kadir, Rotem; Basha, Omer; Shorer, Zamir; Romi, Hila; Meiri, Gal; Rabinski, Tatiana; Ofir, Rivka; Yeger-Lotem, Esti; Birk, Ohad S. (2018). "RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3". *Brain: A Journal of Neurology*. **141** (4): 961–970. [doi:10.1093/brain/awy045](https://doi.org/10.1093/brain/awy045). [ISSN 1460-2156](https://www.worldcat.org/issn/1460-2156). [PMID 29522154](https://pubmed.ncbi.nlm.nih.gov/29522154)

1. Wormser, Ohad; Gradstein, Libe; Yogev, Yuval; Perez, Yonatan; Kadir, Rotem; Goliand, Inna; Sadka, Yair; El Riati, Saad; Flusser, Hagit; Nachmias, Dikla; Birk, Ruth; Iraqi, Muhamad; Kadar, Einat; Gat, Roni; Drabkin, Max; Halperin, Daniel; Horev, Amir; Sivan, Sara; Abdu, Uri; Elia, Natalie; Birk, Ohad S. (2019). "SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome". *European Journal of Human Genetics*. **27** (6): 928–940. [doi:10.1038/s41431-019-0347-z](https://doi.org/10.1038/s41431-019-0347-z). [ISSN 1476-5438](https://www.worldcat.org/issn/1476-5438). [PMC 6777442](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777442). [PMID 30723319](https://pubmed.ncbi.nlm.nih.gov/30723319)

1. Halperin, Daniel; Kadir, Rotem; Perez, Yonatan; Drabkin, Max; Yogev, Yuval; Wormser, Ohad; Berman, Erez M.; Eremenko, Ekaterina; Rotblat, Barak; Shorer, Zamir; Gradstein, Libe; Shelef, Ilan; Birk, Ruth; Abdu, Uri; Flusser, Hagit; Birk, Ohad S. (2019). "SEC31A mutation affects ER homeostasis, causing a neurological syndrome". *Journal of Medical Genetics*. **56** (3): 139–148. [doi:10.1136/jmedgenet-2018-105503](https://doi.org/10.1136/jmedgenet-2018-105503). [ISSN 1468-6244](https://www.worldcat.org/issn/1468-6244). [PMID 30464055](https://pubmed.ncbi.nlm.nih.gov/30464055). [S2CID 53717389](https://api.semanticscholar.org/CorpusID:53717389)

1. Drabkin, Max; Zilberberg, Noam; Menahem, Sasson; Mulla, Wesam; Halperin, Daniel; Yogev, Yuval; Wormser, Ohad; Perez, Yonatan; Kadir, Rotem; Etzion, Yoram; Katz, Amos; Birk, Ohad S. (2018). "Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel". *Circulation: Genomic and Precision Medicine*. **11** (11). [doi:10.1161/CIRCGEN.118.002293](https://doi.org/10.1161/CIRCGEN.118.002293). [ISSN 2574-8300](https://www.worldcat.org/issn/2574-8300). [PMID 30571183](https://pubmed.ncbi.nlm.nih.gov/30571183)

1. Drabkin, Max; Yogev, Yuval; Zeller, Lior; Zarivach, Raz; Zalk, Ran; Halperin, Daniel; Wormser, Ohad; Gurevich, Evgenia; Landau, Daniel; Kadir, Rotem; Perez, Yonatan; Birk, Ohad S. (2019). "Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase". *The Journal of Clinical Investigation*. **129** (12): 5163–5168. [doi:10.1172/JCI129057](https://doi.org/10.1172/JCI129057). [ISSN 1558-8238](https://www.worldcat.org/issn/1558-8238). [PMC 6877321](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6877321). [PMID 31638601](https://pubmed.ncbi.nlm.nih.gov/31638601)

1. ["OMIM Entry - # 617595 - BIRK-LANDAU-PEREZ SYNDROME; BILAPES"](https://www.omim.org/entry/617595). *www.omim.org*

## External links

- [Prof. Ohad Birk, the National Institute for Biotechnology in the Negev (NIBN)](http://in.bgu.ac.il/en/nibn/Pages/Administrative%20and%20Management%20Team.aspx)
- [Prof. Ohad Birk, Soroka Medical Center](https://www.jpost.com/Israel-News/Soroka-Medical-Centers-Top-Doctors-Prof-Ohad-Birk-468922)
- [Selected publications, Ohad Birk](http://publicationslist.org/ohad.birk)
- [Movie - Ohad Birk, genetic research in the Bedouins, 2009](https://www.youtube.com/watch?v=RfFs2lz8gSQ)
- [NY Times 2006 – A hunt for Genes that Betrayed a Desert People](https://www.nytimes.com/2006/03/21/science/21bedo.html)
- [BBC World Doha Debates 2012 (cousin marriages)](https://www.youtube.com/watch?v=8P9AOrryvqs)

### Press - partial selection (by dates)

- [Israel 21c, 2004](http://www.israel21c.org/helping-israeli-bedouin-by-identifying-mutant-genes/)
- [NY Times 2006](https://www.nytimes.com/2006/03/21/science/21bedo.html)
- [Israel 21c 2010](http://www.israel21c.org/supplying-the-missing-building-block-in-brain-atrophy/)
- [Israel 21c, 2011](http://www.israel21c.org/israeli-researchers-zero-in-on-nearsightedness-gene/)
- [BBC World Doha Debates 2012](https://www.youtube.com/watch?v=8P9AOrryvqs)
- [Jerusalem Post 2012](https://www.jpost.com/Health-and-Science/Beersheba-geneticist-in-Qatar-wins-TV-debate)
- [Gulf News, Qatar, 2012](http://gulfnews.com/news/gulf/qatar/debates-discourage-consanguineous-marriages-1.998045)
- [The Forward (NY) 2012](http://forward.com/culture/160897/mysterious-childhood-diseases-of-sephardim/)
- [Israel21c, 2012](http://www.israel21c.org/bgu-identifies-gene-mutation-that-causes-intestinal-obstruction/)
- [Channel 10, London and Kirschenbaum](https://www.facebook.com/LondonKirsh10/posts/260238124068360)
- [The Forward 2014](http://forward.com/culture/203928/the-genes-that-affect-indian-jewish-vision/)
- [Haaretz 2014](https://www.haaretz.com/2014-03-10/ty-article/.premium/israelis-decode-disease-of-moroccan-jews/0000017f-f990-d460-afff-fbf603f30000)
- ["BGU researchers identify mutation causing genetic disease common in Moroccan Jews"](https://www.pressreader.com/israel/jerusalem-post/20140310/281732677418066). Retrieved 2017-02-03. – via PressReader.
- [JNS (Jewish News Service) 2014](http://www.jns.org/latest-articles/2014/3/8/researcher-discovers-genetic-mutation-in-moroccan-jews-that-leads-to-crippling-disease#.WFTqieB96Ul=)
- [Times of Israel 2014](http://www.timesofisrael.com/bgu-team-solves-jewish-infants-genetic-disease-riddle/)
- [Popular Science 2014](http://www.popsci.com/article/science/hunting-genetic-secret-rare-disease)
- [Bionews UK 2014](http://www.bionews.org.uk/page_405624.asp)
- [Israel Hayom 2014](http://www.israelhayom.com/site/newsletter_article.php?id=16031)
- [The Algemeiner 2014](https://www.algemeiner.com/2014/03/14/researcher-discovers-genetic-mutation-in-moroccan-jews-that-leads-to-crippling-disease/)
- [La Gazette – Dafina, France, 2014](http://www.dafina.net/gazette/article/d%C3%A9couverte-scientifique-des-mutations-g%C3%A9n%C3%A9tiques-responsables-de-diff%C3%A9rentes-maladies-chez-l)
- [Deutschmedizin (German) 2014](http://www.deutschmedizin.com/items/view/11823)[dead link]
- [Source-1 (French) 2014](http://www.source-r.com/les-chercheurs-a-reperer-la-maladie-genetique-grave/)
- [Corinnaz (Spanish) 2014](http://www.corinnaz.com/pesquisadores-identificam-doenca-genetica-grave/)
- [The Jewish Week, 2015](http://www.thejewishweek.com/special-sections/healthcare/fighting-genetic-disease-among-bedouins)
- [The Jewish Week – NY, 2016](http://www.thejewishweek.com/special-sections/healthcare/unlikely-genetic-cousins-emerge)
- [Jewish Chronicle, London, 2016](http://thejc.co.uk/news/israel-news/166426/new-cases-negevs-genetic-detective)
- [Jerusalem Post 2016](https://www.jpost.com/Israel-News/Soroka-Medical-Centers-Top-Doctors-Prof-Ohad-Birk-468922)
- [abv articulos (Italy) 2016](http://it.abcarticulos.info/article/malattia-genetica-grave-prevalente-in-ebrei-marocchini)

### Music by Ohad Birk

- [Lo Rotze Lihyot Schnitzel](https://www.youtube.com/watch?v=Dex5Dmxc57w)
- [Tikva le-Ahava](https://www.youtube.com/watch?v=SIOXk2-1Wbs)

---
Adapted from the Wikipedia article [Ohad Birk](https://en.wikipedia.org/wiki/Ohad_Birk) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/Ohad_Birk?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.