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Research Overview

As a Board Certified and Massachusetts Licensed Genetic Counselor, Ms. Dies has focused on neurodevelopmental disorders including elucidating genetic causes, performing gene-specific clinical treatment trials, and providing genetic counseling in a clinical setting. Specifically, her interests include genetic disorders associated with autism such as Tuberous Sclerosis Complex. She has aided in the development and implementation of multiple clinical trials in Tuberous Sclerosis Complex, PTEN Hamartoma Tumor Syndrome and Rett Syndrome performed at Boston Children’s Hospital (NCT0078982, NCT01713946, NCT01289912, NCT01777542, NCT02991807).

Research Background

Ms. Dies serves on the Board of Directors for the CureAP4 advocacy organization, the Professional Advisory Board for the Tuberous Sclerosis Alliance, the Clinical Ethics Board and Neuroscience Family Advisory Council at BCH. She has numerous publications regarding genetic susceptibility to autism and tuberous sclerosis complex as well as social issues in genetic counseling.

Selected Publications

  1. Schaaf CP, Betancur C, Yuen RKC, Parr JR, Skuse DH, Gallagher L, Bernier RA, Buchanan JA, Buxbaum JD, Chen CA, Dies KA, Elsabbagh M, Firth HV, Frazier T, Hoang N, Howe J, Marshall CR, Michaud JL, Rennie O, Szatmari P, Chung WK, Bolton PF, Cook EH, Scherer SW, Vorstman JAS. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nat Rev Genet. 2020 Apr 21. PMID: 32317787
  2. Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, et al. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 Oct 24;381(17):1644-1652.
  3. Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT; NDD Exome Scoping Review Work Group. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019 Jun 11.
  4. Giannikou K, Lasseter KD, Grevelink JM, Tyburczy ME, Dies KA, Zhu Z, Hamieh L, Wollison BM, Thorner AR, Ruoss SJ, Thiele EA, Sahin M, Kwiatkowski DJ. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2019 Jun 4. Ebrahimi-Fakhari D, Cheng C, Dies K, et al. Clinical and genetic characterization of AP4B1-associated SPG47. Am J Med Genet Part A. 2017;1–8.
  5. Dies KA, Sahin M. Chapter 1: Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes. Handbook of Clinical Neurology. 2015;132:3-8.
  6. Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR, Lin L, Krueger D, Franz DN, Thiele EA, Sahin M, Kwiatkowski DJ. Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genet. 2015 Nov 5;11(11).
  7. Dies KA, Bodell A, Hisama FM, Guo C-Y, Barry B, Chang BS, Barkovich AJ, Walsh CA. Schizencephaly: Association with Young Maternal Age, Alcohol Use and Lack of Prenatal Care. Journal of Child Neurology. 2013 Feb;28(2):198-203.
  8. Shen Y*, Dies KA*, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW 3rd, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT. Clinical Genetic Testing for Patients with Autism Spectrum Disorders. Pediatrics 2010 Apr;125(4):e727-35.
  9. Morrow EM, Yoo SY, Flavell SW, Tae-Kyung K, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA. Identifying autism loci and genes by tracing recent shared ancestry. Science 2008 Jul 11; 32(5886):218-23.
  10. Apse KA, Biesecker BB, Giardiello FM, Fuller BP, and Bernhardt BA. Perceptions of Genetic Discrimination Among At-Risk Relatives of Colorectal Cancer Patients. Genet Med 2004 Nov/Dec; 6(6): 510-516.