Helmut Schaschl, Dr. Priv. Doz. - Humangenetik / Human Genetics - Department of Evolutionary Anthropology
Short Curriculum Vitae
I am a human geneticist and evolutionary biologist. I work in the cross-sectional areas of human genomics, population genetics and evolutionary genetics. I received my habilitation (Venia Legendi) in human and evolutionary genetics in 2014. In my research, I use molecular genetic and genomic laboratory methods, bioinformatics, population genetics and evolutionary genetics to understand human genomic diversity and what this diversity tells us about human genetic evolutionary history, genetic adaptation and phenotypic traits. In addition, I want to understand the immunogenetic diversity that exists in populations and how this diversity relates to disease resistance and fitness.
Ich bin Humangenetiker und Evolutionsbiologe. Ich arbeite in den Querschnittsbereichen Humangenomik, Populationsgenetik und Evolutionsgenetik. Meine Habilitation (Venia Legendi) in Human- und Evolutionsgenetik erhielt ich 2014. In meiner Forschung verwende ich molekulargenetische und genomische Labormethoden, Bioinformatik, Populationsgenetik und Evolutionsgenetik, um die genomische Vielfalt des Menschen zu verstehen und zu ergründen, was diese Vielfalt über die genetische Evolutionsgeschichte des Menschen, genetische Anpassungen und phänotypische Merkmale aussagt. Darüber hinaus möchte ich die immungenetische Vielfalt in Populationen verstehen und wie diese Vielfalt mit Krankheitsresistenz und Fitness zusammenhängt.
Selection of papers
Schaschl H, Herzog T, Oberreiter V, Kutanan W, Jakobsson M, Larena M (2025). HLA diversity and signatures of selection in the Maniq, a nomadic hunter-gatherer population in Southern Thailand. Immunogenetics 77, 23. https://doi.org/10.1007/s00251-025-01380-0 .
Herzog T, Larena M, Kutanan W, Lukas H, Fieder M, Schaschl H (2025). Natural selection and adaptive traits in the Maniq, a nomadic hunter-gatherer society from Mainland Southeast Asia. Scientific Reports 15, 4809. https://doi.org/10.1038/s41598-024-83657-0 .
Kutanan W, Woravatin W, Srikummool M, Schaschl H, Översti S, Duc La D, Arias L, Stoneking M (2025). Maternal genetic origin of Chao Lay coastal maritime populations from Thailand. BMC Biol 23, 146. https://doi.org/10.1186/s12915-025-02252-5 .
Pasa K, Singh NM, Bharali N, Hmar T, Schaschl H, Baruah T, Adak DK (2024). Reproductive Health Status in India: Comparison of NFHS-IV and NFHS-V Findings. Anthropological Survey of India. https://journals.sagepub.com/doi/10.1177/2277436X241282596 .
Schaschl H, Goellner T, Morris DL (2022). Positive selection acts on regulatory genetic variants in populations of European ancestry that affect ALDH2 gene expression. Scientific Reports, 12:4563. https://www.nature.com/articles/s41598-022-08588-0 .
Göllner T, Larena M, Kutanan W, Lukas H, Fieder M, Schaschl H (2022). Unveiling the Genetic History of the Maniq, a primary hunter-gatherer society. Genome Biology and Evolution; doi: 10.1093/gbe/evac021. https://academic.oup.com/gbe/advance-article/doi/10.1093/gbe/evac021/6526392?login=false .
Emser SV, Schaschl H, Millesi E, Steinborn R (2021). Extension of Mitogenome Enrichment Based on Single Long-Range PCR: mtDNAs and Putative Mitochondrial-Derived Peptides of Five Rodent Hibernators. Frontiers in Genetics, 12, 2434. https://www.frontiersin.org/article/10.3389/fgene.2021.685806 .
Stefanovic M, Dusko C, Bogdanovic N, Kanuer F, Heltai M, Szabo L, Lanszki J, Zhelev CD. Schaschl H, Suchentrunk F. (2021). Positive selection on the MHC class II DLA-DQA1 gene in golden jackals (Canis aureus) from their recent expansion range in Europe and its effect on their body mass index. BMC Ecol Evo (2021). https://bmcecolevol.biomedcentral.com/articles/10.1186/s12862-021-01856-z .
Kiakos K, Satam V, Patil PC, Sweers J, Bowerman JM, Tzou S, Olsen K, Lee M, Schaschl H et al. (2021). Effects of N-terminus modified Hx-amides on DNA binding affinity, sequence specificity, cellular uptake, and gene expression. Bioorg Med Chem Lett. 2021 May 28;128158. doi: 10.1016/j.bmcl.2021.128158. https://www.sciencedirect.com/science/article/pii/S0960894X21003851?via%3Dihub .
Awadi A, Ben Slimen H, Schaschl H, Knauer F, Suchentrunk F (2021). Positive Selection on Two Mitochondrial Coding Genes and Adaptation Signals in Hares (Genus Lepus) from China. BMC Ecol Evo (2021) 21:100. https://bmcecolevol.biomedcentral.com/articles/10.1186/s12862-021-01832-7 .
Schaschl H & Wallner B (2020). Population-specific, recent positive directional selection suggests adaptation of human male reproductive genes to different environmental conditions. BMC Evol Biol 20, 27 (2020). https://doi.org/10.1186/s12862-019-1575-0 .
Wallner B, Windhager S, Schaschl H et al. (2019). Sexual Attractiveness: a Comparative Approach to Morphological, Behavioral and Neurophysiological Aspects of Sexual Signaling in Women and Nonhuman Primate Females. Adaptive Human Behavior and Physiology, 5:164186. https://doi.org/10.1007/s40750-019-00111-6 .
Ben Slimen H, Schaschl H, Knauer F, Suchentrunk F (2017). Selection on the mitochondrial ATP synthase 6 and the NADH dehydrogenase 2 genes in hares (Lepus capensis L., 1758) from a steep ecological gradient in North Africa. BMC Evol Biol. 2017 Feb 7;17(1):46. https://doi.org/10.1186/s12862-017-0896-0 .
Schaschl H, Huber S,Windhager S, Schaefer K, Wallner B, Fieder M (2015). Signatures of positive selection in the cis-regulatory sequences of the human oxytocin receptor (OXTR) and arginine vasopressin receptor 1a (AVPR1A) genes. BMC Evol Biol. 2015 May 13;15:85. https://doi.org/10.1186/s12862-015-0372-7 .
Windhager S, Schaschl H, Schaefer K, Mitteroecker P, Huber S, Wallner B, Fieder M (2014). Variation at Genes Influencing Facial Morphology Are Not Associated with Developmental Imprecision in Human Faces. Plos ONE; 9(6):e99009. http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0099009 .
Rütgen BC, Gerner W, Beiglböck C, Schaschl H, Saalmüller A, Suchentrunk F, Essler SE. (2014). Exploratory assessment of CD4+ T lymphocytes in brown hares (Lepus europeus) using a cross-reactive anti-rabbit CD4 antibody. Vet Immunol Immunopathol. 161(1-2):108-15. doi: 10.1016/j.vetimm.2014.06.001. https://pubmed.ncbi.nlm.nih.gov/25042071/ .
Mueller M, Barros P, Witherden AS, Roberts AL, Zhang Z, Schaschl H, Yu CY, Hurles ME, Schaffner C, Floto RA, Game L, Steinberg KM, Wilson R, Eichler EE, Cook TH, Vyse TJ, Aitman TJ (2013). Genomic pathology of SLE-associated copy number variation at the FCGR2C/3B/2B locus. The American Journal of Human Genetics 92, 2840.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542466/ .
Schaschl H, Suchentrunk F, Morris DL, Ben Slimen H, Smith S, Arnold W (2012). Sex-specific selection for MHC variability in Alpine chamois. BMC Evol Biol 15;12:20. https://bmcecolevol.biomedcentral.com/articles/10.1186/1471-2148-12-20 .
Smith S, Goüy de Bellocq J, Suchentrunk F, Schaschl H (2011). Evolutionary genetics of MHC class II beta genes in the brown hare, Lepus europaeus. Immunogenetics;63(11):743-51. https://pubmed.ncbi.nlm.nih.gov/21688061/ .
Matthews B , Harmon LJ, M'Gonigle L, Marchinko KB, Schaschl H (2010) Sympatric and allopatric divergence of MHC genes in threespine stickleback. PLoS One 16;5(6):e10948. https://pubmed.ncbi.nlm.nih.gov/20585386/ .
Smith S , Mang T, Goüy De Bellocq J, Schaschl H, Zeitlhofer C, Hackländer K, Suchentrunk F (2010). Homozygosity at a class II MHC locus depresses female reproductive ability in European brown hares. Mol Ecol;19(19):4131-43. https://pubmed.ncbi.nlm.nih.gov/20731776/ .
Schaschl H, Aitman TJ, Vyse TJ (2009) Copy number variation in the human genome and its implication in autoimmunity. Clin Exp Immunol. Apr;156(1):12-6. https://pubmed.ncbi.nlm.nih.gov/19220326/ .
Howarth, K., Ranta, S., Winter, E. A Teixeira, H. Schaschl et al. (2009). A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk. BMC Med Genet 10, 54. https://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-10-54 .
Awards and distinction
Bernd Rode Award Laureate 2022 - ASEAN-European Academic University Network https://asea-uninet.org/scholarships-grants/bra-laureates-2022/ .
Research Funding
Project: Genomic Insights into Indonesia's Hunter-Gatherer Peoples: Evolution and Adaptation of the Forest Tobelo and Orang Rimbo (2025 2026). Funding agency: Federal Ministry of Education, Science and Research BMBWF - ASEAN-European Academic University Network (ASEA-UNINET) grant no.: ASEA 47-2024
Project: Investigating of the immunogenetic diversity of the Maniq 2022-10 to 2023-12 | Grant ASEAN-European Academic University Network (ASEA-UNINET), Austrian Federal Ministry of Education, Science and Research (Vienna, AT)
Project: Unveiling the genetic history of the Maniq, primary hunter-gatherers in Southeast Asia 2019-10 to 2020-10 | Grant ASEAN-European Academic University Network (ASEA-UNINET), Austrian Federal Ministry of Education, Science and Research (Vienna, AT)
Horizuon Europe grant number 847693, 2020 - 2025; EU funding 1.765.440 EUR Co-project leader; project title: REinforcing Women In REsearch (REWIRE): https://rewire.univie.ac.at/ .
EU-FP7, grant number: 609431, 2013 - 2018; EU funding 1.539.605 EUR project leader; together with Amy Radlberger, Lucas Zinner; project title: INDICAR: Interdisciplinary Cancer Research: http://indicar.univie.ac.at/fellows .
Austrian Sciences Fund (FWF) Research Grant (2007-2010); grant number: P18534; FWF funding: 303,000 EUR, together with Dr. Franz Suchentrunk from the Veterinary Medicine University Vienna; project title: MHC genes and endoparasites in brown hares, Lepus europaeus: a model for understanding the meaning and consequences of immunogenetic diversity for individual fitness in wild living mammals.
Current Research Interests
My research explores how human genetic diversity reflects our species evolutionary journey. By combining molecular genetics, human genomics, bioinformatics, and population genetics, I aim to uncover how people have adapted to their environments, how genetic variation is shaped by natural selection, and how it relates to health and disease today. A central focus of my work is also the analysis of immunogenetic diversity, in particular to understand how variations in immune genes contribute to disease resistance and fitness in different populations. I am especially interested in the genetic legacy of indigenous hunter-gatherer communities in Southeast Asia, whose histories offer remarkable insights into human adaptation and cultural resilience.
Meine Forschung untersucht, wie die genetische Vielfalt des Menschen die evolutionaere Entwicklung unserer Spezies widerspiegelt. Durch die Kombination von Molekulargenetik, Humangenomik, Bioinformatik und Populationsgenetik moechte ich herausfinden, wie sich Menschen an ihre Umgebung angepasst haben, wie genetische Variationen durch natuerliche Selektion gepraegt werden und in welchem Zusammenhang sie mit Gesundheit und Krankheit heute stehen. Ein zentraler Schwerpunkt meiner Arbeit liegt auch in der Analyse der immunogenetischen Vielfalt, insbesondere um zu verstehen, wie Variationen in Immungenen zur Krankheitsresistenz und Fitness in verschiedenen Populationen beitragen. Mein besonderes Interesse gilt dem genetischen Erbe indigener Jaeger- und Sammlergemeinschaften in Suedostasien, deren Geschichte bemerkenswerte Einblicke in die Anpassungsfaehigkeit und kulturelle Widerstandsfaehigkeit des Menschen bietet.
Current Research Themes:
+Genetic Adaptation and Evolution
--Human population genetics, natural selection, and genetic adaptation
--Population genetics of complex human traits
+Population History and Cultural Context
--Evolutionary and population genetic history of hunter-gatherer societies in Southeast Asia
+Immunogenetics and Health
--HLA and KIR genetics in indigenous peoples of Southeast Asia
--Immunogenetics in natural populations and its impact on disease resistance
Field research in Thailand and Indonesia on Halmahera and Sumatra
2019-2023:
In collaboration with Thai colleagues and with the support of ASEA-Uninet, our team carried out field research among the Maniq, one of the last remaining nomadic hunter-gatherer communities in Southeast Asia. The Maniq inhabit the rainforests of the Satun and Trang provinces in southern Thailand. Their way of life offers rare insights not only into their cultural traditions, but also into human evolutionary history and genetic adaptability. Through our work, we hope to contribute to a deeper understanding of the Maniq and to support efforts aimed at protecting both their cultural heritage and their rainforest environment.
2025-2026:
In collaboration with Adi Prasetijo and Antonius Nur Hadi Kusno from Diponegoro University (UNDIP), and with support from an ASEA-Uninet mobility grant, we are conducting research together with the Forest Tobelo community of Halmahera and the Orang Rimba on Sumatra. We explore their evolutionary history, adaptive traits, and immunogenetic diversity, providing new perspectives on human resilience and adaptation in tropical rainforest environments. This work is carried out in partnership with the communities, and we aim for the project to contribute positively to their long-term resilience and autonomy.
Memberships
Genetics Society UK
Teaching
https://ufind.univie.ac.at/ .
PhD projects:
Tobias Göllner: The Peopling of Asia: genetic ancestry, population structure, demography and natural selection.
Current master's theses:
Wolfgang Krüger: Genetic background of and its contribution to essential hypertension (EH) an analysis applying the results from GWAS studies on blood pressure regulation and EH.

my ORCID