Approximately one in three admissions to pediatric hospitals results from conditions with a genetic basis. Although the majority of these conditions are rare, collectively they account for a significant amount of illness and death in children. Discovering the genetic basis of rare conditions can help us uncover the causes of common diseases, particularly those genetic diseases that are the result of impaired metabolism, such as inborn errors of metabolism.
My research with the Genetic and Metabolic Disease Program (GMDP) focuses on discovering disease-causing genes in patients with undiagnosed genetic disorders and understanding the physiological impact of known but inadequately treated metabolic diseases. We apply samples collected from patients and their families to a panel of laboratory tests, including genomic sequencing and profiling of metabolites, to find altered DNA sequences and abnormal metabolic activities. Combining this data with clinical evaluations can lead to identification of new genetic causes in children with undiagnosed disorders and help us discover novel biomarkers to more efficiently diagnose known metabolic diseases.
About Dr. Ni
Min Ni received her Ph.D. from the University of Southern California (USC) at Los Angeles, where she studied the endoplasmic reticulum stress response in cancers with Dr. Amy Lee at the USC Norris Comprehensive Cancer Center. In 2008, she started her postdoctoral training with Dr. Myles Brown at Dana-Farber Cancer Institute and Harvard Medical School, studying the function of androgens in breast cancer funded by her scholarship from the U.S. Department of Defense. In 2011, she became an Instructor in medical oncology at Harvard Medical School. Dr. Ni joined Infinity Pharmaceuticals in Boston in 2013 where she worked on clinical trials testing new therapeutics for leukemia and lymphoma. In 2014, she joined the Genetic and Metabolic Disease Program at the Children’s Medical Research Institute at UT Southwestern as an assistant professor.
Li, K., Zhang, Y., Liu, X., Liu, Y., Gu, Z., Cao, H., Dickerson, K.E., Chen, M., Chen, W., Shao, Z., Ni, M., and Xu, J. (2020). Noncoding Variants Connect Enhancer Dysregulation with Nuclear Receptor Signaling in Hematopoietic Malignancies. Cancer Discov. 10, 724-745. (PubMed)
Li, K., Liu, Y., Cao, H., Zhang, Y., Gu, Z., Liu, X., Yu, A., Kaphle, P., Dickerson, K.E., Ni, M., and Xu, J. (2020). Interrogation of enhancer function by enhancer-targeting CRISPR epigenetic editing. Nat Commun. 11, 485.(PubMed)
Gu, Z., Liu, Y., Cai, F., Patrick, M., Zmajkovic, J., Cao, H., Zhang, Y., Tasdogan, A., Chen, M., Qi, L., Liu, X., Li, K., Lyu, J., Dickerson, K.E., Chen, W., Ni, M., Merritt, M.E., Morrison. S.J., Skoda, R.C., DeBerardinis, R.J., and Xu, J. (2019). Loss of EZH2 Reprograms BCAA Metabolism to Drive Leukemic Transformation. Cancer Discov. 9, 1228-1247.(PubMed)
Ni, M.*, Solmonson, A., Pan, C., Yang, C., Li, D., Notzon, A., Cai, L., Guevara, G., Zacharias, L.G., Faubert, B., Vu, H.S., Jiang, L., Ko, B., Morales, N.M., Pei, J., Vale, G., Rakheja, D., Grishin, N.V., McDonald, J.G., Gotway, G.K., McNutt, M.C., Pascual, J.M., and DeBerardinis, R.J.*. (2019). Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans. Cell Rep. 27, 1376-1386. (PubMed) * co-corresponding.
Huang, F., Ni, M., Chalishazar, M.D., Huffman, K.E., Kim, J., Cai, L., Shi, X., Cai, F., Zacharias, L.G., Ireland, A.S., Li, K., Gu, W., Kaushik, A.K., Liu, X., Gazdar, A.F., Oliver, T.G., Minna, J.D., Hu, Z., and DeBerardinis, R.J. (2018). Inosine Monophosphate Dehydrogenase Dependence in a Subset of Small Cell Lung Cancers. Cell Metab. 28, 369-382. (PubMed)
Faubert, B., Li, K.Y., Cai, L., Hensley, C.T., Kim, J., Zacharias, L.G., Yang, C., Do, Q.N., Doucette, S., Burguete, D., Li, H., Huet, G., Yuan, Q., Wigal, T., Butt, Y., Ni, M., Torrealba, J., Oliver, D., Lenkinski, R.E., Malloy, C.R., Wachsmann, J.W, Young, J.D., Kernstine, K., and DeBerardinis, R.J. (2017). Lactate Metabolism in Human Lung Tumors. Cell 171, 358-371. (PubMed)
Liu, X., Zhang, Y., Chen, Y., Li, M., Zhou, F., Li, K., Cao, H., Ni, M., Liu, Y., Gu, Z., Dickerson, K.E., Xie, S., Hon, G.C., Xuan, Z., Zhang, M.Q., Shao, Z., and Xu, J. (2017). In Situ Capture of Chromatin Interactions by Biotinylated dCas9. Cell 170, 1028-1043. (PubMed)
Liu, X.*, Zhang, Y.*, Ni, M.*, Cao, H., Signer, R.A.J., Li, D., Li, M., Gu, Z., Hu, Z., Dickerson, K.E., Weinberg, S.E., Chandel, N.S., DeBerardinis, R.J., Zhou, F., Shao, Z.., and Xu, J. (2017). Regulation of mitochondrial biogenesis in erythropoiesis by mTORC1-mediated protein translation. Nat Cell Biol. 19, 626-638. (PubMed) *equal contribution.
Ni, M., Chen, Y., Fei, T., Li, D., Lim, E., Liu, X.S., and Brown, M. (2013). Amplitude modulation of androgen signaling by c-MYC. Genes Dev. 27, 734-748. (PubMed)
Ni, M.*, Chen, Y.*, Lim, E., Wimberly, H., Bailey, S.T., Imai, Y., Rimm, D.L., Liu, X.S., and Brown, M. (2011). Targeting androgen receptor in estrogen receptor-negative breast cancer. Cancer Cell 20, 119-131. (PubMed) *equal contribution.