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Ohad Birk, a physician-scientist, is a professor of human genetics, converging basic scientific research with effective clinical translational applications. 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 three syndromes named after Birk. He also implemented his scientific findings in massive carrier testing programs, conducive to 30% reduction in infant mortality rate in the Bedouin community, as well as near-eradication of two of the most common severe hereditary diseases in Sephardic Jews. Birk heads the clinical Genetics Institute at Soroka Medical Center and the Morris Kahn Laboratory of Human Genetics as well as Israel's National Research Center for Orphan / Rare Diseases at Ben Gurion University, and served as director of Israel's National Institute of Biotechnology in the Negev (NIBN) between 2016 and 2017.
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Osteoporosis-pseudoglioma syndrome or OPGG is a rare genetic condition which is characterized by early-onset blindness and severe osteoporosis alongside seemingly random bone fractures.
Heart-hand syndrome, Slovenian type is a rare autosomal dominant genetic disorder belonging to the heart-hand syndromes.
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication, also known as 2q31.1 microduplication syndrome, is a rare genetic disorder characterized by syndactyly affecting the third-fourth fingers and bilateral congenital nystagmus.
Beck–Fahrner syndrome, also known as BEFAHRS and TET3 deficiency, is a rare genetic disorder caused by mutations of the TET3 gene. It can occur de novo or can be inherited in an autosomal dominant manner. Mutations in the TET3 gene disrupts DNA demethylation during early embryogenesis and neural development. Most common clinical presentation includes global developmental delay, psychomotor retardation, neurodevelopmental disorders, hypotonia, epilepsy and dysmorphic features. It is diagnosed using molecular and genetic testing in setting of typical symptoms. Management is supportive and intended to improve quality of life.
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Multiple congenital anomalies hypotonia seizures syndrome". www.orpha.net. Retrieved 2022-05-20.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ↑ "Multiple congenital anomalies-hypotonia-seizures syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-20.
- ↑ Maydan, Gal; Noyman, Iris; Har-Zahav, Adi; Neriah, Ziva Ben; Pasmanik-Chor, Metsada; Yeheskel, Adva; Albin-Kaplanski, Adi; Maya, Idit; Magal, Nurit; Birk, Efrat; Simon, Amos J (2011-06-01). "Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN". Journal of Medical Genetics. 48 (6): 383–389. doi:10.1136/jmg.2010.087114. ISSN 1468-6244. PMID 21493957. S2CID 39973123.
- ↑ Jiao, Xianru; Xue, Jiao; Gong, Pan; Bao, Xinhua; Wu, Ye; Zhang, Yuehua; Jiang, Yuwu; Yang, Zhixian (2020-03-27). "Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)". Orphanet Journal of Rare Diseases. 15 (1): 78. doi: 10.1186/s13023-020-01365-0 . ISSN 1750-1172. PMC 7099766 . PMID 32220244.
- ↑ Yang, Li; Peng, Jing; Yin, Xiao-Meng; Pang, Nan; Chen, Chen; Wu, Teng-Hui; Zou, Xiao-Min; Yin, Fei (2018). "Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3". Frontiers in Genetics. 9. doi: 10.3389/fgene.2018.00153 . ISSN 1664-8021. PMC 5951959 .
- ↑ Maydan, Gal; Noyman, Iris; Har-Zahav, Adi; Neriah, Ziva Ben; Pasmanik-Chor, Metsada; Yeheskel, Adva; Albin-Kaplanski, Adi; Maya, Idit; Magal, Nurit; Birk, Efrat; Simon, Amos J. (2011-06-01). "Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN". Journal of Medical Genetics. 48 (6): 383–389. doi:10.1136/jmg.2010.087114. ISSN 0022-2593. PMID 21493957. S2CID 39973123.
- ↑ "OMIM Entry - # 614080 - MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1". omim.org. Retrieved 2022-05-20.