School of Biomedical Sciences
The Chinese University of Hong Kong 香港中文大學

Linda Gu




電話:  3943 5747

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地址:  Room 706A, 7/F, Lo Kwee-Seong Integrated Biomedical Sciences Building, Area 39, CUHK



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Prof. GU Shen Linda (顧燊) obtained her bachelor's degree with full scholarship at the Chinese University of Hong Kong (CHUK) and received her Ph.D. degree from the School of Biomedical Sciences (SBS) at CUHK. She then pursued postdoc training at Baylor College of Medicine (BCM) in the United States. Subsequently, she was selected into the highly competitive American Board of Medical Genetics and Genomic (ABMGG) fellowship program at BCM. Graduating from the three-year fellowship training, she was certified in both clinical molecular genetics and cytogenetics by ABMGG. In late 2019, she returned to SBS as an independent investigator. Her lab is interested in exploring the causes and clinical consequences of genetic diseases. She has published over 40 papers in high impact journals including PLoS Genetics, Human Molecular Genetics, Genome Research, Nucleic Acids Research and American Journal of Human Genetics (>1,700 citations as in August 2022, h-index 23, i10-index 32). She received several international awards, including the 13th International Congress of Human Genetics Travel Award, finalist and semi-finalist of ASHG / Charles J. Epstein Trainee Award for Excellence in Human Genetics Research, and three times Outstanding Research Award from the Association of Chinese Geneticists in America.

  1. Identification of novel disease-causing genes through genome-wide sequencing in patients.
  2. Functional characterization of novel disease genes and deleterious variants by in vitro and in vivo studies.
  3. Carrier frequency analysis of autosomal recessive and X-linked Mendelian disorders.
  1. Meng, L., Isohanni, P., Shao, Y., Graham, B.H., Hickey, S.E., Brooks, S., Suomalainen, A., Joset, P., Steindl, K., Rauch, A., Hackenberg, A., High, F.A., Armstrong-Javors, A., Mencacci, N.E., Gonzàlez-Latapi, P., Kamel, W.A., Al-Hashel, J.Y., Bustos, B.I., Hernandez, A.V., Krainc, D., Lubbe, S.J., Van Esch, H., De Luca, C., Ballon, K., Ravelli, C., Burglen, L., Qebibo, L., Calame, D.G., Mitani, T., Marafi, D., Pehlivan, D., Saadi, N.W., Sahin, Y., Maroofian, R., Efthymiou, S., Houlden, H., Maqbool, S., Rahman, F., Gu, S., Posey, J.E., Lupski, J.R., Hunter, J.V., Wangler, M.F., Carroll, C.J., Yang, Y. (2021). MED27 variants cause developmental delay, dystonia, and cerebellar hypoplasia. Ann Neurol., Apr;89(4):828-833.
  2. Gu, S., Chen, C., Rosenfeld, J.A., Cope, H., Launay, N., Flanigan, K., Waldrop, M., Schrader, R., Juusola, J., U.D.N, Goker-Alpan, O., Milunsky, A., Schlüter, A., Troncoso, M., Pujol, A., Tan, Q., Schaff, C., & Meng, L. (2020). Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat, 41(3), 632-640.
  3. Gu, S., Jernegan, M., Van den Veyver, I.B., Peacock, S., Smith, J., & Breman, A. (2018). Chromosomal microarray analysis on uncultured CVS can be complicated by confined placental mosaicism for aneuploidy and microdeletions. Prenatal Diagnosis, 38(11), 858-865.
  4. Song, X., Beck, C.R., Du, R., Campbell, I.M., Coban-Akdemir, Z., Gu, S., Breman, A.M., Stankiewicz, P., Ira, G., Shaw, C.A., & Lupski, J.R. (2018). Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements. Genome Research, 10.1101/gr.229401.117.
  5. Gu, S., Szafranski, P., Akdemir, Z.C., Yuan, B., Cooper, M.L., Magriñá, M.A., Bacino, C.A., Lalani, S.R., Breman, A.M., Smith, J.L., Patel, A., Song, R.H., Bi, W., Cheung, S.W., Carvalho, C.M., Stankiewicz, P., & Lupski, J.R. (2016). Mechanisms for complex chromosomal insertions. PLoS Genetics,12(11), e1006446. 
  6. Gambin, T., Akdemir, Z.C., Yuan, B., Gu, S., Chiang, T., Carvalho, C.M.B., Shaw, C., Jhangiani, S., Boone, P.M., Eldomery, M.K., Karaca, E., Bayram, Y., Stray-Pedersen, A., Muzny, D., Charng, W.L., Bahrambeigi, V., Belmont, J.W., Boerwinkle, E., Beaudet, A.L., Gibbs, R.A., & Lupski, J.R. (2016). Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Research, 45(4), 1633-1648. 
  7. Harel, T., Yoon, W.H., Garone, C., Gu, S., Coban-Akdemir, Z., Eldomery, M.K., Posey, J.E., Jhangiani, S.N., Rosenfeld, J.A., Cho, M.T., Fox, S., Withers, M., Brooks, S. M., Chiang, T., Duraine, L., Erdin, S., Yuan, B., Shao, Y., Moussallem, E., Lamperti, C., Donati, M.A., Smith, J.D., McLaughlin, H.M., Eng, C.M., Walkiewicz, M., Xia, F., Pippucci, T., Magini, P., Seri, M., Zeviani, M., Hirano, M., Hunter, J.V., Srour, M., Zanigni, S., Lewis, R.A., Muzny, D.M., Lotze, T.E., Boerwinkle, E.; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics, Gibbs, R.A., Hickey, S.E., Graham, B.H., Yang, Y., Buhas, D., Martin, D.M., Potocki, L., Graziano, C., Bellen, H.J., & Lupski, J.R. (2016). Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes. The American Journal of Human Genetics, 99(4), 831-845. 
  8. Bekheirnia, M.R., Bekheirnia, N., Bainbridge, M.N., Gu, S., Coban Akdemir, Z.H., Gambin, T., Janzen, N.K., Jhangiani, S.N., Muzny, D.M., Michael, M., Brewer, E.D., Elenberg, E., Kale, A.S., Riley, A.A., Swartz, S.J., Scott, D.A., Yang, Y., Srivaths, P.R., Wenderfer, S.E., Bodurtha, J., Applegate, C.D., Velinov, M., Myers, A., Borovik, L., Craigen, W.J., Hanchard, N.A., Rosenfeld, J.A., Lewis, R.A., Gonzales, E.T., Gibbs, R.A., Belmont, J.W., Roth, D.R., Eng, C., Braun, M.C., Lupski, J.R., & Lamb, D.J. (2016). Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genetics in Medicine, 19(4), 412-420.
  9. Gu, S., Yuan, B., Campbell, I.M., Beck, C.R., Carvalho, C.M., Nagamani, S.C., Erez, A., Patel, A., Bacino, C.A., Shaw, C.A., Stankiewicz, P., Cheung, S.W., Bi, W., & Lupski, J.R. (2015). Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Human Molecular Genetics, 24(14), 4061-4077.
  10. Gu, S., Posey, J.E., Yuan, B., Carvalho, C.M., Luk, H.M., Erikson, K., Lo, I.F., Leung, G.K., Pickering, C.R., Chung, B.H., & Lupski, J.R. (2015). Mechanisms for the generation of two quadruplications associated with split-hand malformation. Human Mutation, 37(2), 160-164.
  11. Farlow, J.L., Robak, L.A., Hetrick, K., Bowling, K., Boerwinkle, E., Coban-Akdemir, Z.H., Gambin, T., Gibbs, R.A., Gu, S., Jain, P., Jankovic, J., Jhangiani, S., Kaw, K., Lai, D., Lin, H., Ling, H., Liu, Y., Lupski, J.R., Muzny, D., Porter, P., Pugh, E., White, J., Doheny, K., Myers, R.M., Shulman, J.M., & Foroud, T. (2015). Whole exome sequencing identifies candidate genes for Parkinson’s disease. JAMA Neurology, 73(1), 68-75.
  12. Chen, X.#, Gu, S.#, Chen, B.F., Shen, W.L., Yin, Z., Xu, G.W., Hu, J.J., Zhu, T., Li, G., Wan, C., Ouyang, H.W., Lee, T.L., & Chan, W.Y. (2015). Nanoparticle delivery of stable miR-199a-5p agomir improves the osteogenesis of human mesenchymal stem cells via the HIF1a pathway. Biomaterials, 53, 239-250.
  13. Yuan, B., Harel, T., Gu, S., Liu, P., Burglen, L., Chantot-Bastaraud, S., Gelowani, V., Beck, C.R., Carvalho, C.M., Cheung, S.W., Coe, A., Malan, V., Munnich, A., Magoulas, P.L., Potocki, L., & Lupski, J.R. (2015). Nonrecurrent genomic rearrangements in patients with a contiguous gene syndrome associated with PMP22-RAI1 duplication. The American Journal of Human Genetics, 97(5), 691-707.

    # Co-first author
  1. National Natural Science Foundation of China (NSFC) Young Scientists Fund [PI; 01-Jan-2023 to 31-Dec-2025]: “通過UBAP1突變導致的遺傳性痙攣性截癱探究神經元選擇易損性機理” (RMB 300,000).
  2. Health and Medical Research Fund [PI; 01-Oct-2022 to 31-Mar-2024]: “Functional characterization of variants of uncertain significance (VUSs) identified in patients with early-life epilepsy in Hong Kong” (HK$592,940).
  3. RGC - General Research Fund (Early Career Scheme) [PI; 01-Jan-2022 to 31-Dec-2024]: “Functional characterization of recurrent truncating variant in UBAP1 associated with hereditary spastic paraplegia” (HK$1,184,011).
  4. Health and Medical Research Fund [PI; 30-Jun-2021 to 29-Jun-2023]: "Data-driven analysis of carrier frequencies of autosomal recessive and X-linked diseases in the Asian population" (HK$770,824).