Alessandro Achilli is Associate Professor of Professor of Genetics (SSD BIO/18-Genetica) at the Dept. Biology and Biotechnology “L. Spallanzani”, University of Pavia.
ACADEMIC FORMATION
12 Aprile 2017. National Scientific Qualification (Abilitazione Scientifica) as Full Professor of Genetics (BIO/18).
28 Marzo 2017. National Scientific Qualification (Abilitazione Scientifica) as Full Professor of Anthropology (BIO/08).
May 13, 2005. Master Degree in Advanced School of Integrated Formation (S.A.F.I.). I.U.S.S. of Pavia.
Jan 24, 2005. Ph.D. degree in Genetic and Biomolecular Sciences. University of Pavia.
Jul 11, 2001. “Laurea” (Master's Degree) cum laude in Biological Sciences. University of Perugia.
PROFESSIONAL EXPERIENCE
2017 (Jul-Oct). Visiting Scientist at University of Illinois Urbana-Champaign (USA) to participate to the ancient DNA analysis of Native American populations.
2016-now. Visiting Scientist at the University of Huddersfield, UK to collaborate on population genetics projects.
2007-2012. Scientific Consultant and Visiting Scientist at the Sorenson Molecular Genealogy Foundation, Utah (USA) to set up haplogroup prediction tools and a database of ~100.000 mtDNAs from worldwide populations.
2008-2015. Ricercatore (Assistant Professor) and Associate Professor of Genetics at the Dept. of Chemistry, Biology and Biotechnology (ex Dept. of Cellular and Environmental Biology), University of Perugia.
2004-2007. Post Doctoral Fellow at the Dept. of Genetics and Microbiology. University of Pavia.
PROFESSIONAL DUTIES
2017-now. Faculty Member of the PhD program “Genetics, Molecular and Cellular Biology”. University of Pavia.
2011-2017. Faculty Member of the PhD programs in “Biotechnology” and “Biology and Ecology”. University of Perugia.
2016-now. Pavia’s University Lecturer for: Evolution and medicine, Molecular Genetics, Molecular-Genetics Methodologies
2007-2015. Perugia’s University Lecturer for: Molecular Genetics, Genetics, Genetics Engineering and Functional Biology
2012-now. Member of the Editorial board of PLoS ONE.
2008-now. Referee for various ISI journals (e.g. Am J Phys Anthropol, BMC Genomics, Mol Biol Evol, PNAS, Sci Rep).
2008-now. Member of the review board for: European Research Council (ERC), Italian Ministry of Education, University and Research (MIUR), National Science Foundation (USA) and Royal Society (UK).
2003-now. Member of the following Professional Societies: American Society of Human Genetics (from 2008); Italian Society for Evolutionary Biology (from 2006); Italian Genetics Association (from 2003).
2015-now. Member of the Pavia University Strategic Theme “TSA MIGRAT.IN.G. - MIGRATions: towards an INterdisciplinary Governance model. http://www-wp.unipv.it/migrazione/
2015-now. Member and Scientific Coordinator of the Group "Genomics of Human and Animal Populations" at the University of Pavia. http://dbb.unipv.it/genomica-di-popolazioni-umane-ed-animali/
FUNDED PROJECTS
2016-now. Participant as Unit Coordinator within the European Project ERC-CoG-2014, No. 648535: “An ARTery of EMPIRE. Conquest, Commerce, Crisis, Culture and the Panamanian Junction, 1513-1671”.
2013-2015. Unit Coordinator for a project PRIN 2009 (cod. 2012JA4BTY_002).
2012-2015. Unit Coordinator for a project FIRB – Futuro in Ricerca 2012 (cod. RBFR126B8I_002).
2011-2013. Unit Coordinator for a project PRIN 2009 (cod. 2009P2CNKK_005).
2010-2014. Coordinator for a project FIRB – Futuro in Ricerca 2008 (cod. RBFR08U07M).
2011-2013. Participant of the National Geographic Grant 2011: “Horse domestication in the ancient Near East”.
2006-2009. Participant of ACUME 2 European Thematic Network: “Interfacing Sciences, Literature and Humanities”.
2002-2003. Grant Recipient - “Progetto Giovani Ricercatori Bando 2002” (University of Pavia)
AWARDS
2007. “Città di Ponzano Romano per la Scienza 2007” prize.
2005 and 2004. Advanced School of Integrated Formation S.A.F.I. (I.U.S.S. of Pavia) annual prizes.
2005. Honorable mention for the best PhD thesis annual prize of the Italian Genetics Association (AGI).
PUBBLICATIONS
Author and co-author of 86 original articles in international ISI journals (with 13 first and eigth last ca-authorships), one book chapter (last co-author) and four non-ISI publications (Oct 2017). Five of them were selected as cover story articles for the print version of Current Biology, Genome Research and Molecular Biology and Evolution. Some of the results have been reported by television and radio broadcasts.
BIBLIOMETRIC INDICES
Scopus (Author ID: 6701652869). Docs: 91; Citations: 4842; H-index: 38.
ISI-Web of Knowledge (ResearcherID: I-9236-2012): Docs: 90; Total citations: 4583; H-index: 35.
Google Scholar: Docs: 124; Total citations: 7369; H-index: 44.
ORCID: orcid.org/0000-0001-6871-3451
Ranked at pos.85 among the Top Italian Scientists (http://www.topitalianscientists.org/top_italian_scientists.aspx).

Dr. Alessandro Achilli is member of the Group "Genomics of Human and Animal Populations" at the Dept. of Biology and Biotechnology "L. Spallanzani", University of Pavia. (http://dbb.unipv.it/genomica-di-popolazioni-umane-ed-animali/s) and his research activity is mainly dedicated to: (1) the analysis of DNA sequence variation with the aim of better defining origins, evolution and dispersal patterns of human and animal populations; (2) the definition of the role played by the human and animal genome sequence variation in association studies; (3) the application of mtDNA surveys in forensic genetics.

1) A comparative analysis of historical-cultural and genetic data: conquest, commerce, crisis, culture and the Panamanian junction (1513-1671) (ERC CoG 648,535 - ArtEmpire)
The narrow Isthmus of Panama was a strategic node of the Spanish Empire and a crucial site for early modern globalization. This project combines analyses of historical documents with archaeological and archaeogenetic approaches to highlight the cultural and biological consequences of encounters between populations and goods from Europe, America, Africa and Asia in the Isthmus of Panama area during the sixteenth and seventeenth centuries.
2) The genetic origin of Central Italian populations
Despite its small geographic area, the Italian peninsula, for geographical, climatic and historical reasons, has occupied for several millennia a central position in the flow of genetic exchange and commercial trades among ancient populations. The objective of this research line is to reconstruct the prehistorical and historical genetics of the early Italy at a very high level of genetic resolution in a very large number of subjects (covering all Italian regions). To accomplish this task, a genome-wide scan on rare and common SNPs as well as analyses of both uniparental genetic systems (MSY and mtDNA) are going to be performed in modern and ancient samples.
3) Modes and times of domestication of some mammal species (Bos taurus, Bubalus bubalis, Ovis aeries, Capra hircus, Equus caballus)
Our first phylogeographic studies on the entire mitogenome of cattle, horse, goat and sheep provided new information on the domestication process(es). Most of the domestic species have been involved in a single domestication event that occurred in the Neolithic period (about 10,000 years ago) in the Fertile Crescent. On the contrary, the high number of haplogroups found in modern equine breeds suggests that the domestication of wild horses took place in several centres around Eurasia. The analysis is currently extended to the nuclear genome (in particular to the Y chromosome), focusing on the origin of local breeds (especially in Italy). The overall aim is to highlight parallel genetic histories of humans and domestic animals useful to further extend the current knowledge of human populations.
4) Genetic origins of Italian wild mammals (Sus scrofa)
The same phylogeographic approach employed to analyze the domestic species is now employed for studying the variability of some wild species that are related or depending on human activities. In particular, virtually all European wild boars belong to only one mtDNA haplogroup, named D1, with the notable exception of the Italian-specific haplogroup D4. A phylogeographic study based on complete mitogenomes is in progress to clarify the origin and spread of this "Italian" lineage.
5) Identification of new pathological mtDNA mutations and the roles of mitochondrial background (haplogroups) in the expression of diseases / phenotypes
The mitochondrial ATP production by the oxidative phosphorylation is essential for the maintenance of normal functions of organs and tissues. MtDNA mutations, by interfering with ATP synthesis, can cause serious maternally-transmitted diseases. The search for new disease-causing mtDNA mutations is carried out mainly on Leber's Optic Neuropathy (LHON). In recent years, an important role of the "neutral" sequence variation of mtDNA has also been postulated for many complex diseases and other phenotypes (aging, athletic performance). To evaluate also these aspects, we are sequencing entire mitogenomes from numerous human populations and building up a database that includes representatives of each mtDNA haplogroup and sub-

1. Lindo J, Achilli A, Perego U, et al. Ancient individuals from the North American Northwest Coast reveal 10,000 years of regional genetic continuity. Proc Natl Acad Sci USA (2017). [IF: 9.661]
2. Olivieri A*, Sidore C*, Achilli A*, et al. Mitogenome diversity in Sardinians: a genetic window onto an island's past. Mol Biol Evol. 34:1230-1239 (2017) [IF2016: 6.202] (Cover story article) *These authors contributed equally to this work
3. Wang S*, Chen N*, Capodiferro MR*, …, Achilli A*, Lei C*. Whole mitogenomes reveal the history of Swamp Buffalo: initially shaped by glacial periods and eventually modelled by domestication. Sci Rep. 7:4708 (2017) [IF2016: 4.259] *These authors contributed equally to this work
4. Cardinali I, Lancioni H, Giontella A, …, Achilli A*, Silvestrelli M*. An overview of ten Italian horse breeds through mitochondrial DNA. PLoS One. 11: e0153004 (2016) [IF: 2.806] *These authors contributed equally to this work
5. Colli L, Lancioni H, Cardinali I, …, Ajmone Marsan P, Achilli A. Whole mitochondrial genomes unveil the impact of domestication on goat matrilineal variability. BMC Genomics. 16: 1115 (2015) [IF: 3.867]
6. Achilli A, Perego UA, Lancioni H, et al. Reconciling migration models to the Americas with the variation of North American native mitogenomes. Proc Natl Acad Sci USA. 110: 14308-13 (2013) [IF: 9.809]
7. Lancioni H, Di Lorenzo P, Ceccobelli S, …, Lasagna E, Achilli A. Phylogenetic relationships of three Italian merino-derived sheep breeds evaluated through a complete mitogenome analysis. PLoS ONE. 8: e73712 (2013) [IF: 3.534]
8. Perego UA, Achilli A, Ekins JE, et al. The Mountain Meadows Massacre and "poisoned springs": scientific testing of the more recent, anthrax theory. Int J Legal Med. 127: 77-83 (2013) [IF: 2.597]
9. Achilli A, Olivieri A, Soares P, et al. Mitochondrial genomes from modern horses reveal the major haplogroups that underwent domestication. Proc Natl Acad Sci USA. 109: 2449-54 (2012) [IF: 9.737]
10. Achilli A, Iommarini L, Olivieri A, et al. Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PLoS ONE. 7: e42242 (2012) [IF: 3.730]
11. Cerezo M, Achilli A, Olivieri A, et al. Reconstructing ancient mitochondrial DNA links between Africa and Europe. Genome Res. 22: 821-6 (2012) [IF: 14.397] (Cover story article)
12. Perego UA, Lancioni H, Tribaldos M, …, Achilli A. Decrypting the mitochondrial gene pool of modern Panamanians. PLoS ONE. 7: e38337 (2012) [IF: 3.730]
13. Achilli A*, Olivieri A*, Pala M, et al. Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole. PLoS ONE. 6: e21029 (2011) [IF: 4.092] *These authors contributed equally to this work
14. Perego UA, Angerhofer N, Pala M, …, Achilli A*, Torroni A*. The initial peopling of the Americas: a growing number of founding mitochondrial genomes from Beringia. Genome Res. 20: 1174-9 (2010) [IF: 13.588] (Cover story article) *These authors contributed equally to this work
15. Soares P, Achilli A, Semino O, et al. The archaeogenetics of Europe. Curr Biol. 70: R174-R183 (2010) [IF: 10.026]
16. Perego UA*, Achilli A*, Angerhofer N, et al. Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups. Curr Biol. 19: 1-8 (2009) [IF: 10.992] (Cover story article) *These authors contributed equally to this work
17. Achilli A*, Olivieri A*, Pellecchia M, et al. Mitochondrial genomes of extinct aurochs survive in domestic cattle. Curr Biol. 18: R157-8 (2008) [IF: 10.777] (Cover story article) *These authors contributed equally to this work
18. Achilli A, Perego UA, Bravi CM, et al. The phylogeny of the four pan-American mtDNA haplogroups: implications for evolutionary and disease studies. PLoS ONE. 3: e1764 (2008) [IF: 4.351]
19. La Morgia C, Achilli A, Iommarini L, et al. Rare mtDNA variants in Leber’s hereditary optic neuropathy families with recurrence of myoclonus. Neurology. 70: 762-70 (2008) [IF: 7.043]
20. Achilli A, Olivieri A, Pala M, et al. Mitochondrial DNA variation of modern Tuscans supports the Near Eastern origin of Etruscans. Am J Hum Genet. 80: 759-68 (2007) [IF: 11.092]

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