Yu Leng Phua, PhD

  • Clinical Biochemical Genetics Fellow

Administrative Assistant: Brianna Karp

Dr. Yu Leng Phua graduated from The University of Queensland in Australia with a Bachelor of Science (Honors Class I) triple majors in Biochemistry, Biomedical Science and Developmental Biology and was awarded a Dean’s Commendation for High Achievement. Subsequently, Dr. Phua received a University of Queensland Research Scholarship and an International Research Tuition Award to pursue his PhD in Molecular Genomics of Development with Prof. Melissa Little, an internationally renowned developmental biologist in kidney development and iPSCs-kidney organoids.

During Dr. Phua’s PhD training, he characterized the role of the CRIM1 gene that is implicated in Chronic Kidney Disease and Coloboma in humans and published 3 manuscripts in the Journal of Pathology, the top research pathology journal. Following completion of his PhD in Australia, Dr. Phua further pursued his interest in congenital rare disorders at UPMC Children’s Hospital of Pittsburgh. During this period, Dr. Phua was awarded a prestigious Ben J. Lipps Fellowship from the American Society of Nephrology and was endowed as a George B. Rathmann Research Fellow in honor of Amgen CEO to research on MIR17HG, the first microRNA mutation to be associated with Feingold Syndrome in humans.

Dr. Phua made several significant findings to the field and spearheaded multiple innovative initiatives that include identifying the molecular link between MIR17HG mutation, low nephron number and predisposition to chronic kidney disease; establishing a novel in vitro system to culture nephron progenitors (stem cells of the kidney) and organoids; utilizing Next Generation Sequencing to establish the first repertoire of known and novel small noncoding RNAs expressed in nephron progenitors; and integrating RNA-seq, ChIP-Seq and ATAC-seq data to establish a genomic landscape of transcription factor-regulated noncoding RNA genes. Currently, Dr. Phua is training towards his American Board of Medical Genetics and Genomics board certification in Clinical Biochemical Genetics under the tutelage of Dr. Jerry Vockley and Dr. Steve Dobrowolski. In addition to Dr. Phua’s clinical fellowship training, he conducts research in Dr. Vockley’s lab and is working towards identifying novel therapeutic options for the treatment of Combined D,L-2 Hydroxyglutaric Aciduria, an extremely rareneuro metabolic disorder that is caused by pathogenic variants in the SLC25A1 gene.

Education & Training

  • BS, University of Queensland, 2008
  • PhD, University of Queensland, 2013
  • Postdoctoral Fellowship, University of Pittsburgh, Children's Hospital of Pittsburgh, 2018

Selected Publications

Yu Leng Phua, Thierry Gilbert, Alexander Combes, Lorine Wilkinson, Melissa H. Little. Neonatal vascularization and oxygen tension regulate appropriate perinatal renal medulla/papilla maturation. J Pathol. 2016 Apr;238(5):665-76. PMID: 26800422. 

Yu Leng Phua, Nick Martel, David J. Pennisi, Melissa H. Little, Lorine Wilkinson. Distinct sites of renal fibrosis in the Crim1 mutant mice arise from multiple cellular origins. J Pathol. 2013 Apr;229(5):685-96. PMID: 23224993. 

Lorine Wilkinson, Yu Leng Phua*, Nyoman D Kurniwan*, Michael Nguyen, Joan Li, Graham J Galloway, Hikaru Hashitani, Richard J. Lang, Melissa H. Little. Association between congenital defects in papillary outgrowth and functional obstruction in Crim1 mutant mice. J Pathol. 2012 Aug;227(4):499-510. PMID: 22488641. *Joint-authorship