Population Genetics
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Population
Genetics

Human Genome
Diversitity
lab

PRINCIPAL INVESTIGATOR

David Comas UPF University Professor

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David Comas - UPF University Professor
Human Genome Diversity lab Team
Human Genome Diversity lab

MEMBERS OF THE GROUP (Active in 2018)

Postdoctoral Researchers Erica Bianco, Lara Rubio Arauna

Predoctoral Researchers Simone Biagini, Neus Font-Porterias, Àlex Mas-Sandoval, Gerard Serra-Vidal

Research Technician André Flores-Bello

Master Student Marcel Lucas


HIGHLIGHTS OF 2018

Our group is focused on the analysis of the human genome in order to understand the processes that have modelled the extant genetic diversity of humans. We are interested in unravelling the demographic and adaptive processes that have given rise to the genetic composition of human populations and their consequences in health and disease. In this sense, during 2018 we have detected a founder mutation in Roma that causes a severe myopathy and we have addressed the migration patterns in North Africans using mtDNA. Finally, we have dissected at DNA level the RhD system in Basques, which has been a hallmark of their singularity.

2018 SELECTED PUBLICATIONS

Flores-Bello A, Mas-Ponte D, Rosu ME, Bosch E, Calafell F, Comas D (2018) Sequence diversity of the Rh blood group system in Basques. European Journal of Human Genetics 26:1859-1866

Font-Porterias N, Solé-Morata N, Serra-Vidal G, Bekada A, Fadhlaoui-Zid K, Zalloua P, Calafell F, Comas D (2018) The genetic landscape of Mediterranean North African populations through complete mtDNA sequences. Annals of Human Biology 45: 98-104

Cabrera-Serrano M, Mavillard F, Biancalana V, Rivas E, Morar B, Hernández-Laín A, Olive M, Muelas N, Khan E, Carvajal A, Quiroga P, Diaz-Manera J, Davis M, Ávila R, Domínguez C, Romero NB, Vílchez JJ, Comas D, Laing NG, Laporte J, Kalaydjieva L, Paradas C (2018) Roma founder BIN1 mutation causes a novel phehotype of centronuclear myopathy with rigid spine. Neurology 91(4):e339-e348

2018 FUNDED PROJECTS

Population genomics and the demographic history of the Roma. (CGL2016-75389-P)
Ministerio de Economía y Competitividad
Research period: 2017-2019

FIGURE CAPTION

A large crowd.
Photo by James Cridland from flikr.
www.flickr.com/photos/jamescridland/613445810