PI: Dr. Jakub Famulski

Postdoc: TBA

PhD Students: Megan Weaver, Kristyn Van Der Meulen, Nicholas Carrara, Warlen Piedade

Current Undergraduates: Amy Sessions, Dylan Mcyntire, Sydney Veith.

Research Overview:

Research in my laboratory is focused primarily on two ocular disorders, coloboma and anterior segment dysgenesis. Respectively, these disorders represent a long-term interest in epithelial sheet fusion as well as mesenchymal cell migration and targeting during vertebrate retinal development. Ultimately, we aim to model human congenital blindness disorders using the zebrafish, Danio rerio, model system.

Transcriptomic analysis of coloboma models:

Failure of epithelial sheet fusion in the optic fissure during retinal morphogenesis leads to congenital coloboma, a source of blindness for up to 8% of pediatric blindness patients. My approach to examining coloboma has been to characterize cellular components and likely molecular regulators of epithelial sheet fusion including the cytoskeleton, basement membrane and extra cellular matrix remodeling enzymes. To date we have characterized the exact timing of fissure fusion initiation and have correlated it to dynamic changes in both the basement membrane and cytoskeletal rearrangement. Recently, we have also discovered a direct connection between Pax2, a master regulator of choroid fissure fusion, and endothelial vasculature precursor cells. Transcriptomic and pharmacological studies suggest that Pax2 regulates angiogenesis in order to recruit endothelial cells into the fissure, which are necessary to initiate fusion. We are actively examining the molecular mechanisms involved in the cross talk between vasculature and fusion of the fissure.

Personnel:

Jakub Famulski, Megan Weaver, Nicholas Carrara

Computational methods:

Read processing, transcriptome assembly, differential expression analysis, annotation

Software:

RSEM, blast Bowtie, EBseq (all available on DLX)

We have no current collaborators for this project.

Transcriptomic analysis of Periocular Mesenchyme during eye development in Danio rerio.

Anterior segment dysgenesis, a congenital blinding disorder, stems from a failure in anterior segment development. Migration of the periocular mesenchyme (POM) out of the neural crest stream and onto the developing retina is a crucial step in the formation of the anterior segment of the eye. Being the progenitors of the anterior segment, I am interested in characterizing the basic biology of POM. To date we have confirmed the existence of POM sub populations by analyzing POM targeting and migratory patterns using gene expression and live imaging approaches. Furthermore, we have generated POM specific transcriptomic data for various POM subpopulations and are currently analyzing their profiles. Our goal is to identify novel targets of POM as well as better understand their developmental regulation as it pertains to forming a fully functional anterior segment.

Personnel:

Jakub Famulski

Megan Weaver

Kristyn Van Der Meulen

Meet K Patel, Graduate, Added on LCC cluster, 05/16/2022

Sejuti Naurin, Added on LCC cluster, 05/16/2022

Computational methods:

Read processing, transcriptome assembly, differential expression analysis, annotation

Software:

RSEM, Bowtie, blast, EBseq (all available on DLX)

We have no current collaborators for this project.

Publications:

Grants:

NIH 2019, R01 EY027805-01A1, Comprehensive analysis of periocular mesenchyme composition, specification and function during anterior segment formation. Famulski, Jakub K. / University of Kentucky
NIH 2018, R01 EY, Comprehensive analysis of periocular mesenchyme composition, specification and function during anterior segment formation. Famulski, Jakub K. / University of Kentucky, 2018 – 2023 $748,234

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