NIH selected UAB as one of the pilot centers for Precision Disease Modeling

The University of Alabama at Birmingham is funded by NIH to create a new Center for Precision Animal Modeling (C-PAM). UAB C-PAM is one of only three centers in the country and is funded by a five-year, $9.3M grant from NIH.

The Center will consist of five components: Coordinating Component; Pre/Co-Clinical Component; Bioinformatics Component; Disease Modeling Unit; Resource and Services Component. Dr. Matt Might and Dr. Brad Yoder are the main PIs for this grant and Liz Worthey is PI for the Bioinformatics component.

More details on the UAB News page.

Team RICO (Risk of COVID-19), mentored by Dr. Liz Worthey, won 3rd place in UAB COVID Hackathon

Third prize went to the RICO (RIsk of COvid) team, which adapted credit scorecard models used in the financial industry to create a functioning web app that advises users whether or not they should be tested for COVID-19 based on their symptoms. (Watch the RICO team’s presentation.) Team members were: Tarun Mamidi, doctoral trainee in Genetics, Genomics and Bioinformatics; Thi Tran-Nguyen, Ph.D., committee chair and data scientist for UAB’s U-BRITE/COVID-19 Knowledge Curation Taskforce and a graduate of the doctoral program in immunology; Ryan Melvin, Ph.D., assistant professor of anesthesiology and perioperative medicine; and mentor Elizabeth Worthey, Ph.D., associate professor of pediatric hematology and oncology.

Animation from the RICO team depicting part of their functioning web app for alerting members of the public if they should seek a COVID-19 test. Watch the full presentation here.

More about this news to be found in “The Reporter|UAB”

Elizabeth A. Worthey, Ph.D., was appointed the inaugural holder of the Endowed Professorship in Pediatrics in the Department of Pediatrics

Buildings from below

The University of Alabama System Board of Trustees appointed Mona Fouad, M.D., the inaugural holder of the Edward E. Partridge, M.D., Endowed Chair for Cancer Disparity Research during its June 4 meeting. Matthew Macaluso, D.O., was appointed the first holder of the Bee McWane Reid Endowed Chair in Psychiatry and Neurobiology in the Department of Psychiatry and Behavioral Neurobiology.

Elizabeth A. Worthey, Ph.D., was appointed the inaugural holder of the Endowed Professorship in Pediatrics in the Department of Pediatrics, and Charles Blakely Simpson, M.D., was appointed the first holder of the Abroms Endowed Professorship in the Department of Otolaryngology.

More details to be found here.

Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis

Abstract

Variations in disease onset and/or severity have often been observed in siblings with cystic fibrosis (CF), despite the same CFTR genotype and environment. We postulated that genomic variation (modifier and/or pharmacogenomic variants) might explain these clinical discordances. From a cohort of patients included in the Wisconsin randomized clinical trial (RCT) of newborn screening (NBS) for CF, we identified two brothers who showed discordant lung disease courses as children, with one milder and the other more severe than average, and a third, eldest brother, who also has severe lung disease. Leukocytes were harvested as the source of DNA, and whole-genome sequencing (WGS) was performed. Variants were identified and analyzed using in-house-developed informatics tools. Lung disease onset and severity were quantitatively different between brothers during childhood. The youngest, less severely affected brother is homozygous for HFE p.H63D. He also has a very rare PLG p.D238N variant that may influence host–pathogen interaction during chronic lung infection. Other variants of interest were found differentially between the siblings. Pharmacogenomics findings were consistent with the middle, most severely affected brother having poor outcomes to common CF treatments. We conclude that genomic variation between siblings with CF is expected. Variable lung disease severity may be associated with differences acting as genetic modifiers and/or pharmacogenomic factors, but large cohort studies are needed to assess this hypothesis.

More about the article at this link