Nadja Makki

Nadja Makki, PhD

Assistant Professor

Department: MD-ANATOMY-GENERAL
Business Phone: (352) 273-6461
Business Email: nadja.makki@ufl.edu

About Nadja Makki

Teaching Profile

Courses Taught
2020-2023
GMS6001 Fundamentals of Biomedical Sciences I
2020-2023
GMS6647 Transcriptional and Translational Control of Cell Growth and Proliferation
2020-2025
GMS6691 Special Topics in Cell Biology and Anatomy
2020-2025
GMS6421 Cell Biology
2019,2021-2023,2023-2024
GMS6013 Developmental Genetics
2022-2025
GMS6692 Research Conference in Anatomy and Cell Biology
2022-2025
GMS6335 Advanced Stem Cell Biology: Tissue Engineering
2023
GMS6331 Stem Cell Biology
2023-2024
BMS4136C Human Histology
2024-2025
DEN5126C Histology

Research Profile

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.

Open Researcher and Contributor ID (ORCID)

0000-0002-6733-6604

Publications

2021
Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome
Human Molecular Genetics. 29(22):3606-3615 [DOI] 10.1093/hmg/ddaa242. [PMID] 33179741.
2021
New insights into the genetic architecture of inguinal hernia
eBioMedicine. 71 [DOI] 10.1016/j.ebiom.2021.103564. [PMID] 34455395.
2020
The cartilage matrisome in adolescent idiopathic scoliosis.
Bone research. 8 [DOI] 10.1038/s41413-020-0089-0. [PMID] 32195011.
2019
Dysregulation of STAT3 signaling is associated with endplate-oriented herniations of the intervertebral disc in Adgrg6 mutant mice.
PLoS genetics. 15(10) [DOI] 10.1371/journal.pgen.1008096. [PMID] 31652254.
2018
Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.
Human molecular genetics. 27(22):3986-3998 [DOI] 10.1093/hmg/ddy306. [PMID] 30395268.
2017
Escapees from Rhombomeric Lineage Restriction: Extensive Migration Rostral to the r4/r5 Border of Hox-a3 Expression.
Anatomical record (Hoboken, N.J. : 2007). 300(10):1838-1846 [DOI] 10.1002/ar.23628. [PMID] 28667681.
2016
Transcriptomic and epigenomic characterization of the developing bat wing.
Nature genetics. 48(5):528-36 [DOI] 10.1038/ng.3537. [PMID] 27019111.
2015
A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia.
Nature communications. 6 [DOI] 10.1038/ncomms10130. [PMID] 26686553.
2013
The interfascicular trigeminal nucleus: a precerebellar nucleus in the mouse defined by retrograde neuronal tracing and genetic fate mapping.
The Journal of comparative neurology. 521(3):697-708 [DOI] 10.1002/cne.23200. [PMID] 22829396.
2012
Cardiovascular defects in a mouse model of HOXA1 syndrome.
Human molecular genetics. 21(1):26-31 [DOI] 10.1093/hmg/ddr434. [PMID] 21940751.
2011
Identification of novel Hoxa1 downstream targets regulating hindbrain, neural crest and inner ear development.
Developmental biology. 357(2):295-304 [DOI] 10.1016/j.ydbio.2011.06.042. [PMID] 21784065.
2011
Precerebellar cell groups in the hindbrain of the mouse defined by retrograde tracing and correlated with cumulative Wnt1-cre genetic labeling.
Cerebellum (London, England). 10(3):570-84 [DOI] 10.1007/s12311-011-0266-1. [PMID] 21479970.
2010
Hoxa1 lineage tracing indicates a direct role for Hoxa1 in the development of the inner ear, the heart, and the third rhombomere.
Developmental biology. 341(2):499-509 [DOI] 10.1016/j.ydbio.2010.02.014. [PMID] 20171203.
2009
The precerebellar linear nucleus in the mouse defined by connections, immunohistochemistry, and gene expression.
Brain research. 1271:49-59 [DOI] 10.1016/j.brainres.2009.02.068. [PMID] 19281800.

Education

Postdoctoral Researcher
2014-2018 · University of California, Jane Coffin Childs Fellow
Postdoctoral Fellow
2011-2013 · Stanford University
PhD, Genetics
2010 · University of Utah School of Medicine
MS (summa cum laude), Molecular Biology
2005 · University of Kiel, Germany
BS, Biology
2001 · University of Kiel, Germany

Contact Details

Phones:
Business:
(352) 273-6461
Emails:
Addresses:
Business Mailing:
PO Box 100235
GAINESVILLE FL 32610
Business Street:
1200 Newell Dr, R3-250
GAINESVILLE FL 32610