Tag: cystic fibrosis

CGDS Publishes Study on Genetic Factors Influencing Vitamin D Status in Cystic Fibrosis

CGDS researchers and collaborators have published new findings on the genetic basis of vitamin D variability in adults with cystic fibrosis (CF). The study analyzed 25-hydroxyvitamin D (25OHD) levels alongside whole genome sequencing data from 80 adults to investigate why some patients remain vitamin D insufficient despite consistent supplementation.

Results showed that 30% of participants had 25OHD concentrations below the 30 ng/mL threshold, despite normal vitamin E levels. Polygenic risk scores (PRS) were significantly correlated with 25OHD status, indicating that common genetic variants contribute to differences in response to vitamin D therapy. These findings align with prior results in children and support a more personalized approach to supplementation in CF care.

Read the full study in Journal of Cystic Fibrosis: Vitamin D status and variable responses to supplements depend in part on genetic factors in adults with cystic fibrosis.

CGDS Trainee Presents at the UAB Cystic Fibrosis Research Center Symposium

On October 4, 2023, Tarun Mamidi, a doctoral candidate in CGDS, showcased his research at the UAB Cystic Fibrosis Research Center Symposium, focusing on using neural networks to identify modifier variants in Cystic Fibrosis (CF).

His work aims to improve our understanding of how these variants can change how CF affects individuals and their response to treatments. By applying advanced neural network techniques, Tarun’s research offers potential pathways for more precise and effective therapeutic strategies.

Congratulations to Tarun!

CGDS Trainee Presents at 2023 GBS Symposium

Tarun Mamidi presenting at the 2023 UAB GBS Symposium

Tarun Mamidi, a doctoral trainee in the Genetics, Genomics, and Bioinformatics theme, delivered an impressive oral presentation titled about identifying cystic fibrosis variants using his tool, DITTO, at the 2023 UAB GBS Symposium.

His presentation highlighted the development of DITTO, a variant prioritization tool designed to identify modifier variants in rare diseases by integrating whole-genome sequencing data and machine learning models.

Congratulations to Tarun for being selected for an oral presentation and for his outstanding contribution to genome interpretation research!