Campus Stem Cell Lab meeting, Tuesday, March 26

[Sue Gilbert]

Next week, Tuesday, March 26, will be the next talk for this seminar. We will start at noon promptly. We will continue to provide sandwiches and chips starting at 11:40 am (water will be provided but if you want something else to drink please bring your own.) We will be back in The Wisconsin Institutes of Discovery (WID) for these. We will be meeting in the H.F. Deluca Forum in the Town Center on the first floor. Please ask at Information Desk if you are unsure where to go.

 

Date: Tuesday, March 26

 

Speaker: Pawan Shahi, SCRMC Trainee, Pediatrics (Pattnaik lab)

 

Title: Leber Congenital Amaurosis 16 - A Form of Pediatric Blindness: The Cause & The Cure

 

Abstract: Mutations in the KCNJ13 gene, encoding the inwardly rectifying potassium Kir7.1 ion-channel in the RPE, cause autosomal dominant snowflake vitreoretinal degeneration (SVD) and autosomal recessive Leber’s congenital amaurosis (LCA16), an inherited pediatric blindness. It is responsible for maintaining ionic homeostasis thereby allowing photoreceptors to encode visual information. We sought to determine if genetic approaches might be effective in treating blindness due to mutations in KCNJ13 causing LCA.

We developed patient-derived hiPSC-RPE carrying an autosomal recessive nonsense mutation in the KCNJ13 gene (c.158G>A, p.Trp53*). We performed biochemical and electrophysiology assays of Kir7.1 function. Small molecule read-through drug and gene-therapy approaches were tested using this disease-in-a-dish approach.

We found that the LCA16 hiPSC-RPE had normal morphology but did not express a functional Kir7.1 channel and was unable to demonstrate normal physiology. Following read-through drug treatment, the LCA16 hiPSC cells were hyperpolarized by 30 mV and Kir7.1 current was restored. Also, we achieved a functional recovery of Kir7.1 channel in patient derived hiPSC-RPE cells by lentiviral gene delivery. In either approach, Kir7.1 protein was expressing normally with restoration of membrane potential and Kir7.1 current

 

Reminder: If you are talking this Seminar Series for credit, please check in with Sue Gilbert at the back of the room.

 

Next talk: The next talk of the semester will be on Tuesday, March 12, with our nest speaker, Mervin Yoder, Distinguished Professor Emeritus, Ped-Neonatal Medicine. Indiana University, speaking on “Identification of resident vascular endothelial stem cells in mouse and mans." This talk will be in the Wisconsin Institutes of Discovery (WID), H.F. Deluca Forum in the Town Center on the first floor, and will include sandwiches.

 

A list of the talks for the semester is found at:

https://stemcells.wisc.edu/campus-lab-meeting-schedule/

Campus Lab Meeting Schedule – SCRMC – UW–Madison stemcells.wisc.edu This event is held in the center of campus at the new Wisconsin Institutes for Discovery (most weeks), making it easy for all groups to attend. It currently attracts up to 100 students, post-doctoral fellows, staff and faculty each week. The structure is flexible and will encompass presentations of current research as well as discussion…

 

Thank you for supporting this venue for the sharing of information.

 

Sue Gilbert
Office Operations Associate
Stem Cell and Regenerative Medicine Center
8457 WIMR II
1111 Highland Avenue       
Madison, WI 53705-2275

Phone: 608.263.2982

"Somewhere, something incredible is waiting to be known."

Carl Sagan