Vetenskapsområdet för teknik och naturvetenskap

Cross-disciplinary Celsius-Linnaeus symposium

Deciphering gene regulation using single-cell transcriptomics

Professor Rickard Sandberg
Department of Cell and Molecular Biology (CMB), Karolinska Institutet

In this lecture, I will present both our technical developments in single-cell transcriptome analyses and our biological insights into gene regulation that has been gained using single-cell transcriptomics. In particular, I will present recent work in inferring transcriptional burst kinetics from single-cell RNA-seq data in mouse and human, which demonstrates how transcriptome-wide burst kinetics provides insights into the genomic encoding of regulatory elements that dictate transcriptional burst frequencies and sizes.

Characterising stars and their planets from the Earth and from space

Dr. Ulrike Heiter
Department of Physics and Astronomy, Uppsala University

Some of the key scientific goals of astronomical research are to fundamentally enhance our understanding of the formation and the evolution of planetary systems and to identify potentially habitable planets. This requires to determine bulk and atmospheric properties of extrasolar planets and their host stars. Two examples for upcoming instruments on Earth and in space that will obtain the needed observations are the upgraded CRyogenic high-resolution InfraRed Echelle Spectrograph (CRIRES+) and the PLAnetary Transits and Oscillations of stars (PLATO) mission.

Comparative genomics and genetics: deciphering evolution and disease

Professor Kerstin Lindblad Toh
SciLifeLab, Uppsala University and Broad Institute of MIT and Harvard

In the past twenty years, genome sequences from human as well as >100 vertebrate model and non-model organisms has been generated to annotate the human genome and to increase the understanding of phenotypic traits and disease. In the future, comparative vertebrate genomics in conjunction with additional genomic resources (such as single cell sequencing and functional genomics annotation) will continue to yield insights into the processes of genome function, evolution, speciation, selection and adaptation. Here I highlight our 29 mammals project as a background to the ongoing 200 mammals project as well as describe how canine comparative genetics has allowed the identification of genes for obsessive compulsive disorder both in dogs and humans.

Searching for the Solar System 2.0

Professor Dr. Jorge Meléndez
Department of Astronomy, Institute of Astronomy, Geophysics and Atmospheric Sciences University of São Paulo Brazil

Albeit thousands of exoplanets have been discovered to date, the overwhelming majority of their planetary systems have an architecture different to our solar system (which has inner small rocky planets and outer gas giants). I will describe our efforts to identify solar twins and characterise their planetary systems, in the quest to find the Solar System 2.0.

Functional consequences of mosaic loss of chromosome Y (LOY) in blood cells - transcriptomic studies in single cells using the 10X Chromium system

Associate Professor Lars A. Forsberg
Department of Immunology, Genetics and Pathology, Uppsala University

LOY is a very common and male specific human mutation that could help explain why men live shorter lives compared to women. Recent studies have found that men harboring blood cells with LOY have increased risks for most types of cancer, Alzheimer’s disease and well as cardiovascular disorder and thus, all-cause mortality. One hypothesis to explain these associations is that the immune cells in blood could have a reduced ability to fight neoplastic and neurodegenerative processes, as well as atherosclerosis, when affected with LOY. In our ongoing studies, we are analyzing the effects from LOY using DNA-, RNA- and protein-readouts, to understand the causes and functional consequences of LOY, from single cells up to systemic levels.

Analysis of transcriptomes and genomes as a service at the National Genomics Infrastructure (NGI) SciLifeLab

Dr. Jessica Nordlund
Department of Medical Sciences, SNP&SEQ Thechnology Platform and Molecular Medicine, Uppsala University

The National Genomics Infrastructure (NGI) is one of the largest platforms at SciLifeLab. NGI aims to enable scientists within Swedish academia to perform world-class research projects in genomics through a comprehensive range of technology platforms within next generation DNA sequencing (NGS) and genotyping. The applications offered at NGI range from genotyping single SNPs to sequencing whole genomes with a wide breadth of long- and short-read sequencing technologies, and more recently exciting new possibilities for single-cell transcriptome sequencing.