James B. Potash M.P.H., M.D. [Former faculty]

Hatem El-Shanti M.D.

Current
Hatem
El-Shanti
M.D.
Professor & Director, Division of Medical Genetics & Genomics
Pediatrics
Research area(s): 
Autosomal recessive genes in complex disorders and in particular those leading to childhood disabilities
Address
Research
Research Focus: 

My research is interested in the identification of autosomal recessive genes through the utilization of the inbred populations of the Middle East. This research interest is not restricted to specific phenotypes, but was mainly targeting the study of Mendelian disorders. Currently, we use a similar approach to gene identification to study the etiologic role of autosomal recessive genes in complex disorders and in particular those leading to childhood disabilities.

Faculty affiliations: 

Ryan L. Boudreau Ph.D.

Current
Ryan
L.
Boudreau
Ph.D.
Assistant Professor
Internal Medicine - CardioVascular Medicine
Address
2269-B
CBRB
2269
CBRB
Research
Research Focus: 

My primary interests lie in understanding how genes are regulated at the post-transcriptional level. This process remains a key determinant of the spatial and temporal expression of biological effectors in natural and disease states. My overall research focuses on characterizing disease-related post-transcriptional responses and understanding how human genetic variations interface with these processes. I aim to identify pathogenic and protective RNA-binding proteins (RBPs) and microRNAs (miRNAs) and determine their regulatory targets using computational and high-throughput biochemical means. RBPs and miRNAs are key mediators of post-transcriptional responses and have been implicated in a variety of human diseases (e.g. diabetes, obesity, cardiovascular and neurological). And importantly, modulation of RBP and miRNA activities provides attractive means to manipulate gene expression for therapeutic benefit.

Beyond this, my lab is also investigating the functions of several novel genes, including microproteins derived from long "non-coding" RNAs, in heart and brain. These projects incorporate a breadth of techniques, including viral-based (AAV) overexpression and inhibition (RNAi) of genes in vivo, as well as generation and characterization of CRISPR-derived knockout mice.

Overall, my research program is balanced in basic and translational studies, wet-lab and "big data" approaches, and resource- and hypothesis-driven research. This framework promotes multi-disciplinary and collaborative science, offering an excellent environment to foster the growth of current and future trainees.

Faculty affiliations: 

Ben Darbro M.D., Ph.D.

Current
Ben
Darbro
M.D., Ph.D.
Associate Professor, Director of the Shivanand R. Patil Cytogenetics and Molecular Laboratory
Pediatrics
Research area(s): 
Genetic Determinants of Intellectual Disability
Address
Research
Research Focus: 

My primary research interest is in the genetic determinants of intellectual disability (ID), formerly referred to as mental retardation (MR).  I specifically study the roles of copy number variation and somatic structural variation in the context of a “genomic mutational burden” hypothesis of ID.  This hypothesis is investigated using a combination of conventional cytogenetics methods (chromosome analysis and fluorescence in situ hybridization) and new molecular, high throughput, and high data volume, genomic technologies including single nucleotide polymorphism (SNP) arrays, gene expression microarrays, comparative genomic hybridization (CGH) arrays as well as custom targeted, whole exome, and whole genome massively parallel DNA sequencing.  We perform all our own bioinformatics and are actively engaged in the development of new analysis tools to better meet our needs and those of the scientific community.  Drosophila melanogaster and the well-established GAL4/UAS/RNAi system are used to evaluate candidate ID genes with the use of a validated olfaction learning technique (T-Maze).  Candidate genes are derived from our extensive clinical database of patients with ID that have already undergone diagnostic chromosomal microarray testing.

Ferhaan Ahmad M.D., Ph.D.

Current
Ferhaan
Ahmad
M.D., Ph.D.
Associate Professor of Internal Medicine and Radiology
Internal Medicine, Division of Cardiovascular Medicine
Address
1191D
ML
1191
ML
Research
Research Focus: 

Dr. Ahmad is the Director of the Cardiovascular Genetics Program at the University of Iowa, which brings together basic scientists at the Carver College of Medicine and clinicians at the University of Iowa Hospitals and Clinics (UIHC) who are focusing on heritable cardiovascular disorders. He directs a laboratory conducting basic and translational research into the genetic and genomic mechanisms underlying inherited cardiovascular disorders, including hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, glycogen storage cardiomyopathy, inherited arrhythmias, and pulmonary hypertension. His laboratory uses laboratory uses a wide range of techniques in human and mouse genetics and genomics, and fosters crosstalk between clinical studies, human molecular genetic studies, animal modeling, basic cellular and molecular studies, and computational systems biology analyses. At the UIHC Cardiovascular Genetics Clinic, an interdisciplinary team evaluates, counsels, and treats patients with inherited cardiovascular disorders and their families.

Shizhong Han Ph.D.

Assistant Professor
Psychiatry

Virginia L. Willour Ph.D.

Current
Virginia
L.
Willour
Ph.D.
Associate Professor
Psychiatry
Research area(s): 
Human Genetics & Neurogenetics
Address
B002J
ML
B002
ML
Research
Research Focus: 

Identifying genetic and epigenetic risk factors for suicidal behavior

The primary goal of our laboratory is to identify genetic and epigenetic risk factors for suicidal behavior.  Family, twin, and adoption studies make clear that suicidal behavior has a substantial heritable component. While there is evidence that this heritability is accounted for in part by a liability to mood disorder, other evidence suggests an independent heritable facet that may cut across multiple psychiatric disorders.  In an effort to better understand the biological basis of this behavior, we have conducted a genome-wide association study (GWAS) using attempted suicide as the phenotype, an effort that identified a promising association signal on 2p25 as well as candidate genes implicating the Wnt signaling pathway and excitatory neurotransmission.  These findings have prompted us to launch a large-scale whole exome sequencing project, with the goal of identifying functional variants associated with suicidal behavior on 2p25 and throughout the genome.  Environmental stressors, such as child abuse and early parental loss, are also known to play important roles in triggering suicidal behavior, likely through interaction with genetic vulnerability factors.  With this in mind, we have begun an epigenetics project that involves assessing genome-wide methylation patterns in post-mortem brains of suicide completers and controls, with the goal of identifying differentially methylated candidate genes and regions associated with suicidal behavior.

Faculty affiliations: 

James B. Potash M.P.H., M.D.

Paul W. Penningroth Chair, Professor and Head of Psychiatry

Robert F Mullins Ph.D.

Current
Robert
F
Mullins
Ph.D.
Professor
Ophthalmology & Visual Sciences
Address
4135E
MERF
4120
MERF
Research
Research Focus: 
  • Biology and pathology of the choroidal microvasculature in aging and macular disease
  • Mechanisms involved in the development of drusen, especially with regard to the role of humoral and cellular immune systems in drusen biogenesis
  • Structural and compositional changes in Bruch's membrane in aging and disease, and their effects on ocular physiology
  • Animal and in vitro models of age-related macular degeneration
  • Cell biology of inherited retinal diseases
Faculty affiliations: 

Markus H Kuehn Ph.D.

Current
Markus
H
Kuehn
Ph.D.
Professor
Ophthalmology and Visual Sciences
Research area(s): 
Genetics of Optic Neuropathies
Address
4120F
MERF
4120
MERF
Research
Research Focus: 

My laboratory studies genetic factors that underlie or contribute to optic neuropathies - in particular glaucoma and the neurodegeneration associated with idiopathic intracranial hypertension (IIH).  Data from our studies have shown that components of the complement system are synthesized in the retina in glaucoma and that activation of complement accelerates retinal ganglion cell death.  In addition, variations in certain complement component genes appear to be associated with glaucoma.  A second area of interest is IIH.  The genetics of this condition and the cellular events that result in the degeneration of the retina are poorly understood. We are currently involved in a study designed to determine which genes are involved in the regulation of intracranial pressure and if certain genotypes are correlated with the development of the disease in human patients.

Faculty affiliations: 

Mary E Wilson M.D.

Current
Mary
E
Wilson
M.D.
    Professor
    Internal Medicine and Microbiology
    Research area(s): 
    Molecular Mechanisms of Host-parasite Interactions in Leishmaniasis
    Address
    SW34
    GH
    400
    EMRB
    Research
    Research Focus: 

    The protozoan parasite, Leishmania chagasi, causes the fatal human disease visceral leishmaniasis. L. chagasi express an abundant surface protease GP63, which is important for parasite survival. GP63 is encoded by >18 tandem MSP genes, falling into 3 homologous classes whose expression varies throughout the parasite life cycle. MSPL genes are expressed in logarithmic, whereas MSPS genes are expressed in stationary phase when parasites achieve maximal virulence and express high levels of GP63 protein. Our studies focus on the post-transcriptional mechanisms regulating expression of different MSP gene classes. These include mRNA T½, the efficiency of trans-splicing, and protein T½. Using reporter gene constructs and transfection techniques we are localizing unique sequences in MSP 3'UTRs that interact with regulatory proteins. Additionally, using MALDI-TOF mass spec we are examining products of specific MSP class genes that are expressed in different parasite stages.
    An ongoing epidemic of visceral leishmaniasis in northeast Brazil has led to our studies genetic loci associated with different outcomes of human L. chagasi infection (asymptomatic versus fatal). Using molecular genotyping methods (microsatellites, SSCP, RFLP, sequencing) we are examining polymorphic alleles of candidate genes for their contributions to disease susceptibility, in collaboration with Dr. Selma Jeronimo of Natal, Brazil. These studies will extend to a genome-wide scan and fine mapping of loci linked to different disease outcomes.

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