43194-Vetrini, Francesco

Francesco Vetrini, PhD

Assistant Professor of Clinical Medical & Molecular Genetics

Phone 317-278-2111
IB 252D
Indianapolis, IN
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Dr. Francesco Vetrini earned his doctorate in Medical Genetics at the Second University Naples (Italy), and completed a postdoctoral fellowship at Baylor College of Medicine, Houston, TX.

Dr. Vetrini joined the MMGE department in 2018 as a fellow in the ABMGG Laboratory Genetics and Genomics Fellowship program. Currently, as a Clinical Assistant Professor, and ABMGG board certified geneticist, he holds a dual appointment as the co-Director of the URDC (Undiagnosed Rare Disease Clinic) program and co-Director of the Diagnostic Genomics Laboratory (DGL) in the MMGE department.

During his Ph.D. studies in Medical Genetics between Italy (Telethon Institute/Second University of Naples) and later as a post-doc/senior scientist in the USA (Baylor College of Medicine and Jan and Dan Duncan Neurological Institute, Houston, TX), Dr. Vetrini gained extensive experience in both in vitro and in vivo models of genetic disorders, gene therapy with viral vectors for metabolic disorders and neurodegenerative disorders. Before joining the MMGE department, he worked at Baylor Genetics as a Clinical Genomics Scientist, leading a team involved in clinical NGS data analysis, interpretation, and clinical reporting.

During the past few years, he has been involved in novel disease gene discovery and characterization and has collaborated with multiple international institutions aimed at the characterization of molecular mechanisms underlying novel rare genetic syndromes.   

Dr. Vetrini's primary interests include the development of protocols for genomic assessment of patients by integrating Genomics, Transcriptomics, and Proteomics, as well as the formation of collaborations for functional studies of candidate genes and variants of clinical and therapeutic interest. The overarching goal is to end the diagnostic odyssey for patients and families by employing an integrated multi-omics approach that will not only deepen our understanding of the molecular basis of genetic disorders, but will also ultimately improve patient care while providing definitive answers to families..

Dr. Vetrini oversees the operational and personnel management of the DGL lab, tracks performance data and metrics, performs troubleshooting, leads/assists research projects, and validates proficiency testing. In his free time, he enjoys reading, playing guitar, and spending time with his family in outdoor activities.

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 Mar 23. doi: 10.1111/cga.12566. Epub ahead of print. 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.

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.

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.

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.

Lowther C, Valkanas E, Giordano JL, Wang HZ, Currall BB, O'Keefe K, Pierce-Hoffman E, Kurtas NE, Whelan CW, Hao SP, Weisburd B, Jalili V, Fu J, Wong I, Collins RL, Zhao X, Austin-Tse CA, Evangelista E, Lemire G, Aggarwal VS, Lucente D, Gauthier LD, Tolonen C, Sahakian N, Stevens C, An JY, Dong S, Norton ME, MacKenzie TC, Devlin B, Gilmore K, Powell BC, Brandt A, Vetrini F, DiVito M, Sanders SJ, MacArthur DG, Hodge JC, O'Donnell-Luria A, Rehm HL, Vora NL, Levy B, Brand H, Wapner RJ, Talkowski ME. Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. Am J Hum Genet. 2023 Sep 7;110(9):1454-1469. doi: 10.1016/j.ajhg. 2023.07.010. Epub 2023 Aug 17. PMID: 37595579; PMCID: PMC10502737.

Younger G, Vetrini F*, Weaver DD, Lynnes TC, Treat K, Pratt VM, Torres-Martinez W. EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction. Am J Med Genet A. 2020 Nov;182(11):2501-2507. doi: 10.1002/ajmg.a.61808. Epub 2020 Sep 1. PMID: 32869452. (*) Equal contribution

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Feb 28;11(1):12. doi:10.1186/s13073-019-0623-0. Erratum in: Genome Med. 2019 Mar 25;11(1):16. PMID: 30819258; PMCID: PMC6393995.

Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 6;99(4):886-893. doi: 10.1016/j.ajhg.2016.07.011. Epub 2016 Sep 8. PMID: 27616478; PMCID: PMC5065643.

Titles & Appointments

  • Assistant Professor of Clinical Medical & Molecular Genetics
  • Co-Director of Undiagnosed Rare Disease Clinic (URDC)
  • Associate Director Diagnostic Genomics Laboratory (DGL)
  • Education
    2007 PhD Second University of Naples
    2000 MSC University of Naples Federico II
    2000 BSC University of Naples Federico II
  • Research
    Novel disease gene discovery, characterization of molecular mechanisms underlying novel ultrarare genetic syndromes, development of protocols for genomic assessment of patients by integrating genomics, transcriptomics, and proteomics, and the formation of collaborations for functional studies of candidate genes and variants of clinical and therapeutic interest
  • Professional Organizations
  • Board Certifications
    American Board of Medical Genetics and Genomics - Clinical Molecular Genetics and Genomics*
  • Clinical Interests
    Clinical Molecular Diagnostics, novel gene-disease associations, molecular mechanisms underlying genetic diseases, genotype-phenotype relationships, the identification of new candidate genes and variants, and their potential clinical, diagnostic, and therapeutic utility

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