About the Lab
The Dauber Laboratory is focused on genetic and molecular causes of undiagnosed growth disorders that lead to short stature. Short stature is the most common complaint seen by pediatric endocrinologists second only to diabetes. Most children seen for short stature remain undiagnosed and are therefore classified as having idiopathic short stature (ISS). We use current techniques such as whole exome or genome sequencing (WES/WGS), microarray analysis and targeted sequencing approaches to identify variants potentially correlated with a patient’s phenotype. Novel diagnostic methods are used to determine the functional severity of the variant, often in collaboration with multiple laboratories across the country and world.
In addition, we are interested in using bioinformatics and electronic health records to pinpoint specific undiagnosed problems that relate to growth in collaboration with the top hospitals in the United States, including Cincinnati Children’s Hospital Medical Center, Children’s Hospital of Philadelphia and Boston Children’s Hospital. Our lab also conducts novel clinical trials targeted at improving growth in children with rare genetic causes of short stature.
Anthropometric and biochemical correlates of PAPP-A2, free IGF-I, and IGFBP-3 in childhoodFujimoto M, Khoury JC, Khoury PR, Kalra B, Kumar A, Sluss P, Oxvig C, Hwa V, Dauber A PMID 31961798 European Journal of Endocrinology 182(3):363-374 March (2020)
The Genomics Research and Innovation Network. Targeted searches of the electronic health record and genomics identify an etiology in three patients with short stature and high IGF-I levelsCabrera-Salcedo C, Hawkes CP, Tyzinski L, Andrew M, Labilloy G, Campos D, Deodati A, Hwa V, Hirschhorn JN, Grimberg A, Dauber A PMID 31865343 Hormone Research in Paediatrics epub ahead of print December (2019)
Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutationGkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MFA, Heath KE, Jorge AAL, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Pruhova S, Elblova L, Quinto JB, Segerlund E, Sentchordi L, Shinawi M, Stattin EL, Swartz J, Ariadna GA, Sinhue DC, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A PMID 27870580 Journal of Clinical Endocrinology and Metabolism 102(2):460-469 February (2017)
Mutations in pregnancy-associated protein A2 cause short stature due to low IGF-I availabilityDauber A, Munoz-Calvo MT, Barrios V, Domene HM, Kloverpris S, Serra-Juhe C, Desikan V, Pozo J, Muzumdar R, Martos-Moreno GA, Hawkins F, Jasper HG, Conover CA, Frystyk J, Yakar S, Hwa V, Chowen JA, Oxvig C, Rosenfeld RG, Perez-Jurado LA, Argente J PMID: 26902202 EMBO Molecular Medicine 8(4):363-74 March (2016)
Central precocious puberty caused by mutations in the imprinted gene MKRN3Abreu AP*, Dauber A*, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB PMID: 23728509 New England Journal of Medicine 368(26):2467-75 June (2013)