Erin Conboy, MD
Associate Professor of Clinical Medical & Molecular Genetics
Assistant Professor of Pediatrics
Assistant Residency Program Director of the Medical Genetics Residency
- Phone
- 317-944-3966
- Address
-
IB 144
MMGE
IN
Indianapolis, IN - PubMed:
-
Bio
Erin Conboy, MD is an Assistant Professor in the Department of Medical and Molecular Genetics and Pediatrics. In addition she is the assistant program director for the Medical Genetics residency program. Dr. Conboy received her Bachelor’s degree from Grinnell College and her MD from the Pennsylvania State University College of Medicine. Erin, with a multidisciplinary team, has established the Undiagnosed Rare Disease Clinic (URDC) because of her keen interest in the diagnosis of rare genetic disease. Additionally, she enjoys collaborating with other departments during rare disease pursuits, she is also working with Ophthalmology and has established the Ocular Genetics Clinic and the Department of Allergy and Immunology to establish and Genetic Immunodeficiency Clinic.
In her free time she practices Brazilian Jiu-jitsu.
Click here to learn more about the Undiagnosed Rare Disease Clinic (URDC).
Key Publications
Bruns R, Liaqat K, Nasir A, Treat K, Murthy VS, Mantcheva L, Torres W, Conboy E, Vetrini F. Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey. Congenit Anom (Kyoto). 2024 May;64(3):155-160. doi: 10.1111/cga.12566. Epub 2024 Mar 23. PMID: 38520260.
Liaqat K, Treat K, Wilson TE, Conboy E, Vetrini F. Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder. Clin Genet. 2024 Apr;105(4):455-456. doi: 10.1111/cge.14497. Epub 2024 Feb 12. PMID: 38346866.
Liaqat K, Treat K, Mantcheva L, Nasir A, Weaver DD, Conboy E, Vetrini F. A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome. Am J Med Genet A. 2024 May;194(5):e63499. doi: 10.1002/ajmg.a.63499. Epub 2023 Dec 22. PMID: 38135440.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Ploski R, Pienkowski VM, Klosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Macrocephaly and developmental delay caused by missense variants in RAB5C. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. PMID: 37552066; PMCID: PMC10586195.
Gage H, Wetherill L, Anderson K, Conboy E, Haider K. Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease. Ophthalmic Genet. 2023 Aug;44(4):371-378. doi: 10.1080/13816810.2023.2209170. Epub 2023 May 12. PMID: 37170870.
* † Buchh M, Gillespie PJ, Treat K, Abreu MA, Schwantes-An TL, Helm BM, Fang F, Xuei X, Mantcheva L, Suhrie KR, Graham BH, Conboy E, Vetrini F. Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006254. doi: 10.1101/mcs.a006254. PMID: 36442996; PMCID: PMC9808550.
a. Co-senior author and co-corresponding author, contributed equally to study design, interpretation of results and writing the paper and figures.
*#† Doyle TA, Conboy E, Halverson CME. Diagnostic deserts: Community-level barriers to appropriate genetics services. Am J Med Genet A. 2023 Jan;191(1):296-298. doi: 10.1002/ajmg.a.63016. Epub 2022 Oct 25. PMID: 36282041.
a. Contributed Genetics expertise as an author
*† Patel SH, Bakhsh S, Conboy E, Hajrasouliha AR. Case of IFT140-associated Mainzer Saldino Syndrome. Ophthalmic Genet. 2022 Sep 5:1-3. doi: 10.1080/13816810.2022.2113545. Epub ahead of print. PMID: 36063079.
a. Contributed Genetics expertise as an author
* † Jacobs A, Burns C, Patel P, Treat K, Helm BM, Conboy E, Vetrini F. Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006170. doi: 10.1101/mcs.a006170. PMID: 35091507; PMCID: PMC8958911.
a. Co-senior author and co-corresponding author, contributed equally to study design, interpretation of results and writing the paper and figures.
* Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B; Undiagnosed Diseases Network; Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 Dec 3;107(6):1096-1112. doi: 10.1016/j.ajhg.2020.11.003. Epub 2020 Nov 23. PMID: 33232675; PMCID: PMC7820627.
a. Multi-site study and case series for which I led our site’s contribution
* † Peterman LA, Vance GH, Conboy EE, Anderson K, Weaver DD. An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination. Case Rep Genet. 2020 Aug 31;2020:8857628. doi: 10.1155/2020/8857628. PMID: 32934853; PMCID: PMC7479479.
| Year | Degree | Institution |
|---|---|---|
| 2011 | MD | Pennsylvania State University |
| 2005 | BA | Grinnell College |
Dr. Conboy's research interests include rare disease and Ocular Genetic Diseases.
Conboy E; Selcen D; Brodsky M; Gavrilova R; Ho ML; Seminars in pediatric neurology 2018 Jul
Conboy E; Partain PI; Warad D; Kluge ML; Arndt C; Chen D; Rodriguez V; Journal of pediatric hematology/oncology 2018 Jan
Cheng H; Dharmadhikari AV; Varland S; Ma N; Domingo D; Kleyner R; Rope AF; Yoon M; Stray-Pedersen A; Posey JE; Crews SR; Eldomery MK; Akdemir ZC; Lewis AM; Sutton VR; Rosenfeld JA; Conboy E; Agre K; Xia F; Walkiewicz M; Longoni M; High FA; van Slegtenhorst MA; Mancini GMS; Finnila CR; van Haeringen A; den Hollander N; Ruivenkamp C; Naidu S; Mahida S; Palmer EE; Murray L; Lim D; Jayakar P; Parker MJ; Giusto S; Stracuzzi E; Romano C; Beighley JS; Bernier RA; Küry S; Nizon M; Corbett MA; Shaw M; Gardner A; Barnett C; Armstrong R; Kassahn KS; Van Dijck A; Vandeweyer G; Kleefstra T; Schieving J; Jongmans MJ; de Vries BBA; Pfundt R; Kerr B; Rojas SK; Boycott KM; Person R; Willaert R; Eichler EE; Kooy RF; Yang Y; Wu JC; Lupski JR; Arnesen T; Cooper GM; Chung WK; Gecz J; Stessman HAF; Meng L; Lyon GJ; American journal of human genetics 2018 Apr 12
Conboy E; Vairo F; Schultz M; Agre K; Ridsdale R; Deyle D; Oglesbee D; Gavrilov D; Klee EW; Lanpher B; JIMD reports 2017 Oct 14
Vairo FP; Boczek NJ; Cousin MA; Kaiwar C; Blackburn PR; Conboy E; Lanpher BC; Gavrilova RH; Pichurin PN; Lazaridis KN; Babovic-Vuksanovic D; Klee EW; Molecular genetics and metabolism reports 2017 Aug 11
Conboy E; Vairo F; Waggoner D; Ober C; Das S; Dhamija R; Klee EW; Pichurin P; Case reports in genetics 2017 Apr 12
Conboy E; Dhamija R; Wang M; Xie J; Dyck PJ; Bridges AG; Spinner RJ; Clayton AC; Watson RE; Messiaen L; Babovic-Vuksanovic D; Journal of medical genetics 2015 Sep 2
Volk A; Conboy E; Wical B; Patterson M; Kirmani S; Molecular syndromology 2015 Feb 3
Conboy EE; Fogelman AE; Sauder CL; Ray CA; American journal of physiology. Renal physiology 2009 Nov 18
Gastinger MJ; Kunselman AR; Conboy EE; Bronson SK; Barber AJ; Investigative ophthalmology & visual science 2008 Jun
Sauder CL; Conboy EE; Chin-Sang SA; Ray CA; American journal of physiology. Renal physiology 2008 Aug 13
Rangachari V; Moore BD; Reed DK; Sonoda LK; Bridges AW; Conboy E; Hartigan D; Rosenberry TL; Biochemistry 2007 Oct 2
While at Indiana University in 2018, Dr. Conboy served patients in medical genetics clinic as well as biochemical genetics clinic. During those 5 years, she extended that clinical reach to 3 additional clinics. Identifying the need for pediatric patients with inherited retinal disease to be seen by both a geneticist and a genetic counselor, Dr. Conboy began adding these patients to her medical genetics clinic in 2019, and was able to officially begin the multidisciplinary ocular genetics clinic in January 2020.
In that same month she began seeing patients in the Undiagnosed Rare Disease Clinic after approximately a year of planning, coordinating the team, creating a combination of research protocols and clinical protocols which have evolved over time and continue to improve. In conversations with the immunologists at IU Health, Dr. Conboy and her team identified a strong need for genetic testing and evaluation by a geneticist for severe combined immunodeficiency positive newborn screens as well as other immunodeficiencies.