Education and Training
PhD – Genetics, University of Utah School of Medicine (2010)
MS – Molecular Biology, summa cum laude, University of Kiel, Germany (2005)
BS – Biology, University of Kiel, Germany (2001)
Postdoctoral Researcher – University of California, Jane Coffin Childs Fellow (2014-2018)
Postdoctoral Fellow – Stanford University (2011-2013)
The precise identification of genetic variants that predispose to human diseases is a fundamental scientific goal, paving the way to new diagnostics, treatments, and basic insights into human biology. So far these efforts focused mainly on protein-coding sequences and the identification of non-coding variants lags behind. Our research vision is to elucidate regulatory mechanisms, whereby non-coding variants influence the susceptibility to complex diseases by applying a combination of functional genomics, regulatory element analysis, human patient samples and mouse genetic engineering techniques.
Currently our efforts are focused on diseases of the connective tissue, specifically idiopathic scoliosis, and inguinal hernia. Idiopathic scoliosis is the most common musculoskeletal disorder of childhood, leading to sideways curvature of the spine and inguinal hernia is a weakening of the connective tissue leading to the protrusion of organs through the body wall. The genetic architecture of both diseases is complex, and the great majority of risk factors are undiscovered.
Our goal is to discover novel regulatory mechanisms underlying these diseases by identifying gene regulatory elements such as enhancers, which play an important role in fine-tuning gene expression and understanding how mutations in these enhancers can lead to human diseases. In addition, we will illuminate the genetic networks that the associated genes are involved in and dissect the molecular and cellular processes underlying disease pathogenesis. This disease-guided approach will shed light on global processes underlying connective tissue development and homeostasis.
Khanshour AM, Kou I, Fan Y, Einarsdottir E, Makki N, Kidane YH, Kere J, Grauers A, Johnson TD, Paria N, Patel C, Singhania R , Kamiya N, Takeda K, Otomo N, Watanabe K, Luk KDK, Cheung KMC, Herring JA, Rios JJ, Ahituv N, Gerdhem P, Gurnett CA, Song Y, Ikegawa S, Wise CA. Genome-wide Meta-Analysis and Replication Studies in Multiple Ethnicities Identify Novel Adolescent Idiopathic Scoliosis Susceptibility Loci. Human Molecular Genetics. 2018 Nov 15. PMID: 30395268. | PubMed
Jorgenson E*, Makki N*, Shen L, Chen D, Tian C, Eckalbar WL, Hinds D, Ahituv N, Avins A. A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. (*Co-first authors). Nature Communications. 2015 Dec 21;6:10130. PMID: 26686553. | PubMed
Eckalbar WL, Schlebusch SA, Mason MK, Gill Z, Parker AV, Booker BM, Nishizaki S, Muswamba-Nday C, Terhune E, Nevonen KA, Makki N, Friedrich T, VanderMeer JE, Pollard KS, Carbone L, Wall JD, Illing N, Ahituv N. Transcriptomic and epigenomic characterization of the developing bat wing. Nature Genetics. 2016 Mar 28. PMID: 27019111. | PubMed
Watson C, Leanage G, Makki N, Tvrdik P. Escapees from Rhombomeric Lineage Restriction: Extensive Migration Rostral to the r4/r5 Border of Hox-a3 Expression. The Anatomical Record. 2017 Jul 1. PMID: 28667681. | PubMed
Fu Y, Tvrdik P, Makki N, Machold R, Paxinos G, Watson C. The interfascicular trigeminal nucleus: a precerebellar nucleus in the mouse defined by retrograde neuronal tracing and genetic fate mapping. Journal of Comparative Neurology. 2013 Feb 15;521(3):697-708. PMID: 22829396. | PubMed
Makki N and Capecchi MR. Cardiovascular defects in a mouse model of HOXA1 syndrome. Human Molecular Genetics. 2012 Jan 1;21(1):26-31. PMID: 21940751. | PubMed
Makki N and Capecchi MR. Identification of novel Hoxa1 downstream targets regulating neural crest and inner ear development. Developmental Biology. 2011 Sep 15;357(2):295-304. (voted #5 of hottest articles in Developmental Biology in 2011). PMID: 21784065. | PubMed
Fu Y, Tvrdik P, Makki N, Paxinos G, Watson C. Precerebellar nuclei in the hindbrain of the mouse defined by retrograde tracing and correlated with the genetically labeled Wnt1-Cre cell lineage. Cerebellum. 2011 Sep;10(3):570-84. PMID: 21479970. | PubMed
Makki N and Capecchi MR. Hoxa1 lineage-tracing indicates a direct role for Hoxa1 in development of the inner ear, the heart and the third rhombomere. Developmental Biology. 2010 341(2):499-509. PMID: 20171203. | PubMed
Fu Y, Tvrdik P, Makki N, Palombi O, Machold R, Paxinos G, Watson C. The precerebellar linear nucleus in the mouse defined by connections, immunohistochemistry, and gene expression. Brain Research.2009 1271:40-59. PMID:19281800 | PubMed
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