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Bio

Maria Chiara Manzini is an associate professor at the Department of Neuroscience and Cell Biology. She received her PhD from Columbia University and her postdoc at the Boston Children's Hospital/Harvard Medical School.

The main goal of the Manzini lab is to bridge the genetics and mechanisms of disease to identify genes that are essential for human cognition and define the molecular mechanisms underlying neurodevelopmental disorders focusing on autism and neuromuscular disorders. She combines human genetics with molecular, cellular, and behavioral approaches in murine and zebrafish models to link human genetics to neuronal cell biology, intracellular signaling, and behavior. Their recent work aims to identify molecular mechanisms that could underlie sex bias in autism.

Selected Publications

  • Bhattacharya A., Manzini M.C. Unraveling the mysteries of MYT1L: From reprogramming factor to multifaceted regulator of neuronal differentiation Neuron 109(23):3713-3715 (2021) (Invited Preview) 
  • Choi S.B., Muñoz Llancao P.A., Manzini M.C., Nemes P. Data-Dependent Acquisition Ladder for Capillary Electrophoresis Mass Spectrometry-Based Ultrasensitive (Neuro)Proteomics, Anal Chem 93(48):15964-15972 (2021) 
  • Pond H.L., Heller A.T., Gural B.M., McKissick O.P., Wilkinson M.K., Manzini M.C. Digging Behavior Discrimination Test to probe burrowing and exploratory digging in male and female mice J Neurosci Res99(9):2046-2058 (2021) 
  • Mossa A, Manzini M.C. Molecular causes of sex-specific deficits in animal models of neurodevelopmental disorders J Neurosci Res 99(1):37-56 (2021) (Peer-reviewed invited review) (Top downloaded article)
  • Cauley E.S., Pittman A., Mummidivarpu S., Karimiani E.G., Martinez S., Moroni I., Podini D., Mora M., Jamshidi Y., Hoffman E.P., Manzini M.C. Novel mutation identification and copy- number variant detection via exome sequencing in congenital muscular dystrophy Mol Genet Genom Med 8(11):e1387 (2020)
  • Saredi S, Cauley E.S., Spivey T., Ardissone A., Ruggieri R., Mora M., Moroni I., Manzini M.C. Myopathy associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK Muscle and Nerve 62(2):266-271 (2020)
  • Zamarbide M., Mossa A., Munoz Llancao P., Wilkinson M.K., Pond H.L., Oaks A.W., Manzini M.C. Male-specific cAMP signaling in the hippocampus controls spatial memory deficits in a mouse model of autism and intellectual disability Biol Psych 85(9):760-768 (2019)
  • Zamarbide M., Oaks A.W., Pond H.L., Adelman J.S., Manzini M.C. Loss of the intellectual disability and autism gene Cc2d1a and its homolog Cc2d1b differentially affect spatial memory, anxiety, and hyperactivity Front Genet 9:65 (2018)
  • Osborn D., Pond H.L., Mazaheri N., Dejardin J., Munn C.J., Mushref K., Cauley E.S., Moroni I., Pasanisi M.B., Sellars E.A., Hill R.S., Partlow J.N., Willaert R.K., Bharj J., Malamiri R.A., Galehdari H., Shariati G., Maroofian R., Mora M., Swan L.E., Voit T., Conti F.J., Jamshidi Y., Manzini M.C. Mutations in INPP5K cause a form of congenital muscular dystrophy syndrome overlapping Marinesco-Sjögren Syndrome and the dystroglycanopathies Am J Hum Genet100(3):537-545 (2017)
  • Oaks A.W., Zamarbide M., Tambunan D.E., Santini E., Di Costanzo S., Pond H.L., Johnson M.W., Lin J., Gonzalez D.M., Boehler J.F., Wu G., Klann E., Walsh C.A, Manzini M.C. Cc2d1a loss of function disrupts functional and morphological development in forebrain neurons leading to cognitive and social deficits. Cereb Cortex, 27(2):1670-1685 (2017)
  • Chahrour M., O'Roak B.J., Santini E., Samaco R.C., Kleiman R., Manzini M.C. CurrentPerspectives in Autism Spectrum Disorder: From Genes to Therapy. J Neurosci 36(45):11402-11410 (2016) (Peer-reviewed invited feature)
  • Di Costanzo S., Balasubramanian A., Pond H.L., Rozkalne A., Pantaleoni C., Saredi S., Gupta V.A., Sunu C.M., Yu T.W., Kang P.B., Salih M.A., Mora M., Gussoni E., Walsh C.A., Manzini M.C. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet 23 (21):5781-5792 (2014)
  • Manzini M.C., Xiong L., Shaheen R., Tambunan D.E., Di Costanzo S., Mitisalis V., Cinquino A, Ghaziuddin M., Jiang Q., Laurent S., Nanjiani Z.A., Rasheed S., Hill R.S., Lizarraga S.B., Gleason D., Sabbagh D., Salih M.A., Al Kuraya F.S., Walsh C.A. CC2D1A regulates human intellectual and social function, and NF-kB signaling homeostasis. Cell Reports 8:647-655 (2014)
  • Manzini M.C., Tambunan D.E., Hill R.S., Yu T.W., Heinzen E.L., Shianna K.V., Partlow J.N., Barry B.J., Rodriguez J., Gupta V.A., Beggs A.H., AlQudah A-K, Eyaid W.M., Friedman J.M., Salih M.A., Clark R., Mora M., Moroni I., Walsh C.A. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause for Walker Warburg Syndrome. Am J Hum Genet 91(3):541-7 (2012)

Current funding:

  • NIH R01NS105000 (PI: Manzini)
  • NIH R01NS109149 (PI: Manzini)
  • NIH R01NS110627 (PI: Poitelon - sub-contract)