Ying Ni, PhD
Lerner Research Institute,
9500 Euclid Avenue, Cleveland, Ohio 44195
Our research is all about the systems genetics of cancers for precision oncology. We are interested in developing computational and bioinformatic approaches for analyzing next-generation sequencing and metabolomics data and focuses on ways of integrating diverse data from different molecular levels (e.g. genetic, transcriptomic, metabolic data, etc.) for connecting genotypes to phenotypes (e.g. in human disease) and generating multi-omics signatures in association with disease pathogenicity, prognosis, and biomarker discovery. In particular, we are focusing on metabogenomics, which identifies alterations in metabolism-related genes and metabolites could have direct impact in cancer predisposition, tumor progression, and immunotherapy treatment response.
Genetic variations directly change enzymes’ activities and functions, or transcription factor regulation, which results in the alteration of the identities and quantities of both intracellular and extracellular metabolites. Therefore, the genetic background can be a causal factor for metabolic reprogramming. My research focus is to identify alterations in metabolism-related genes (metabogenomics) and characterize how these alterations result in specific metabolomic molecular phenotypes, which then inform cancer phenotypes and patient outcomes.
- Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, and Eng C, Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. American Journal of Human Genetics, 2008. 83(2): p. 261-268.
- Ni Y, He X, Chen J, Moline J, Mester J, Orloff MS, Ringel MD, and Eng C, Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53. Human Molecular Genetics, 2012. 21(2): p. 300-310.
- Ni Y, Seballos S, Fletcher B, Romigh T, Yehia L, Mester J, Senter L, Niazi F, Saji M, Ringel MD, LaFramboise T, and Eng C, Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma, Human Molecular Genetics, 2017. 26(2):243-257.
- Yehia L*, Ni Y*, Niazi F, Sesock K, Chen J, and Eng C, Unexpected Cancer-Predisposition Gene Variants in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome Patients Without Underlying Germline PTEN Mutations, PLoS Genetics, 2018. 14(4):e1007352
- Yehia L*, Ni Y*, Feng F, Seyfi M, Sadler T, Frazier TW, Eng C, Distinct Alterations in Tricarboxylic Acid Cycle Metabolites are Associated with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome, American Journal Of Human Genetics, 2019. 105(4):813-821.
- Ni Y, Soliman A, Joehlin-Price A, Abdul-Karim F, Rose PG, Mahdi H, Immune cells and signatures characterize tumor microenvironment and predict outcome in ovarian and endometrial cancers, Immunotherapy, 2021 Aug 23.
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