Irfan Saadi
Department of Anatomy and Cell Biology
University of Kansas Medical Center
Dr. Irfan Saadi has always been interested in understanding the etiology of congenital malformations. He received his B.Sc. (Hon.) and M.Sc. degrees in Biology from McGill University in Montreal, Canada, where he began his research career in Dr. Rima Rozen’s laboratory working on genotype-phenotype correlation in patients with congenital renal disease. He then earned his Ph.D. in Genetics from the University of Iowa in Dr. Andrew Russo’s laboratory studying the molecular consequences of disease-causing mutations in Axenfeld-Rieger syndrome, which primarily affects craniofacial and ocular development. His postdoctoral training at Harvard was in developmental genetic analyses of palate and tooth development with Dr. Richard Maas, a preeminent scholar of craniofacial morphogenesis. Dr. Saadi joined the Department of Anatomy and Cell Biology at the University of Kansas Medical Center in 2011 as an Assistant Professor. He is currently an Associate Professor with Tenure. His research is focused on understanding the molecular mechanisms underlying the dynamics of embryonic morphogenesis and how changes in these dynamics can lead to congenital anomalies of the craniofacial region.
Msx1 and Tbx2 antagonistically regulate Bmp4 expression during the bud-to-cap stage transition in tooth development.
Development (Cambridge, England) Jul, 2013 | Pubmed ID: 23720046
Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.
Blood Nov, 2013 | Pubmed ID: 24085763
Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome.
European journal of medical genetics Feb, 2014 | Pubmed ID: 24462885
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
Journal of medical genetics Feb, 2015 | Pubmed ID: 25412741
THPO-MPL pathway and bone marrow failure.
Hematology/oncology and stem cell therapy Mar, 2015 | Pubmed ID: 25482588
SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination.
Scientific reports Jan, 2016 | Pubmed ID: 26787558
Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.
Birth defects research , | Pubmed ID: 28029220
RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery.
Human genetics Dec, 2018 | Pubmed ID: 30417254
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
European journal of medical genetics Dec, 2019 | Pubmed ID: 30472488
A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals.
Genetic epidemiology 09, 2019 | Pubmed ID: 31172578
Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation.
Developmental biology 02, 2020 | Pubmed ID: 31765609
SPECC1L regulates palate development downstream of IRF6.
Human molecular genetics 03, 2020 | Pubmed ID: 31943082
SPECC1L-deficient primary mouse embryonic palatal mesenchyme cells show speed and directionality defects.
Scientific reports Jan, 2021 | Pubmed ID: 33446878
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