lab (named after philanthropist Morris Kahn) span from generation of novel bioinformatics tools, 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. Birk - Flusser syndrome: dysmorphic mental retardation due to FRMD4A mutation. 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. 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. Myopia: the first identification of monogenic non-syndromic myopia gene: Near-sightedness caused by a mutation in LEPREL1, encoding Prolyl 3-hydroxylase 2. UNC80-associated syndrome of hypotonia, intellectual disability, dyskinesia, dysmorphism. Microcephaly caused by WDFY3 (ALFY) mutation – delineating novel pathway controlling Wnt signaling. 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. Foveal hypoplasia caused by SLC38A8 (1:10 Mumbai Indian Jews is a carrier). Adams Oliver syndrome: caused by EOGT mutation (discovered in parallel to and independent of the group of Alkuraya) Lethal congenital contractural syndrome (arthrogryposis) type 2 (LCCS2) - caused by a mutation in ERBB3 (Her3). Lethal congenital contractural syndrome (arthrogryposis) type 3 (LCCS3) - caused by a mutation in PIP5K1C of the phosphatidylinositol pathway. Lethal congenital contractural syndrome (arthrogryposis) type 4 (LCCS4) - caused by a mutation in MYBPC1. Autosomal recessive osteogenesis imperfecta (OI) caused by mutation in TMEM38B (discovered in parallel to and independent of the group of Alkuraya) Meconium ileus (non-CF) caused by inactivating mutation in GUCY2C, encoding the CFTR-activating guanylate cyclase C. Hyperchlorhidrosis caused by mutation in CA12, enclding carbonic anhydrase XII. Connatal Pelizaeus-Merzbacher-like disease (PMLD) caused by AIMP1/p43 mutation. Mitochondrial complex III deficiency due to UQCRQ mutation Congenital cataract (recessive) due to CRYBB1 mutation. Microphthalmia / anophthalmia (non-syndromic) caused by CHX10 mutation 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). Seborrhea-like dermatitis