Diane Shao - IDDRC

Diane Shao, MD, PhD

Instructor, Department of Neurology, Boston Children’s Hospital & Harvard Medical School

Research Focus

Genetic mechanisms affecting human brain development

Brief Research Description

Dr. Shao is a physician-scientist at Boston Children's Hospital whose clinical and research expertise focuses on determining the causes of childhood neurogenetic disorders, with specific focus on disorders that result in brain malformations and neurodevelopmental disabilities. One aspect of her work focuses on somatic mutations, those that impact a subset of cells in the body, as it is not yet clear how often such mutations impact human disease or human phenotypic variability. Her studies of somatic mutations involve patient disease cohorts as well as direct interrogation of human brain tissue using single-cell technology. Dr. Shao is also a principal investigator for the Center for Rare Disease Brain Malformations cohort at Boston Children's Hospital which aims to determine novel genetic causes of brain malformations.

Key Publications (PMCIDs)

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Shao DD, Ahmed H, Straussberg R, Khan A, Tian S, Majmundar AJ, Hill RS, Ameziane N, Partlow JN, Yang E, Al Tenaiji A, Smith R, Al-Saffar M, Basel-Salmon L, Amir AZ, Rento L, Evrony G, Barkovich JA, Jamuar SS, Bauer P, Hildebrandt F, Borck G, Dong M, Beetz C, Al-Gazali L, Eyaid W, Walsh CA.
Genet Med. 2021 Feb 02. PMID: 33531666. PMCID: 8187145.

Polymicrogyria is associated with pathogenic variants in PTEN.
Shao DD, Achkar CM, Lai A, Srivastava S, Doan RN, Rodan LH, Chen AY, Poduri A, Yang E, Walsh CA.
Ann Neurol. 2020 Sep 22. PMID: 32959437. PMCID: 7877488.

Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.
Qian X, DeGennaro EM, Talukdar M, Akula SK, Lai A, Shao DD, Gonzalez D, Marciano JH, Smith RS, Hylton NK, Yang E, Bazan JF, Barrett L, Yeh RC, Hill RS, Beck SG, Otani A, Angad J, Mitani T, Posey JE, Pehlivan D, Calame D, Aydin H, Yesilbas O, Parks KC, Argilli E, England E, Im K, Taranath A, Scott HS, Barnett CP, Arts P, Sherr EH, Lupski JR, Walsh CA.
Dev Cell. 2022 10 24; 57(20):2381-2396.e13. PMID: 36228617

A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
Mo A, Paz-Ebstein E, Yanovsky-Dagan S, Lai A, Mor-Shaked H, Gilboa T, Yang E, Shao DD, Walsh CA, Harel T.
Clin Genet 07; 104(1):73-80. PMID: 37005340. PMCID: PMC10236379.

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