Prokisch Lab at beer garden, few weeks ago 🍻

My lab where I work as a postdoc has now a Twitter account! #mitotwitter #sciencetwitter

First in-person meeting with Murayama lab since corona. Getting ready for #ssiem2022 #GENOMIT

Next up: Understanding variant pathogenicity using multi-omic pipelines with Holger Prokisch #SSIEM2022

Mitochondrial DNA mutations can lead to rare disease and accrue with age. But how does nuclear genome variation influence mtDNA variation? Here in >250k people, we find that nuclear variants can impact variation in the levels of mtDNA mutations. (1/5) medrxiv.org/content/10.110…

Interesting new review article discussing how the rise in genomic investigations has placed an increased emphasis on the need for variant validation. Integrative -omics provide a complementary approach to better understand genomic findings. doi.org/10.1002/jimd.1…

novel perspective suggesting high sustained energy expenditure may be net protective against cancer | Evolution, Medicine, and Public Health | Oxford Academic academic.oup.com/emph/article/1…

High ROS production from mitochondria comes not from high energy expenditure (EE) but from having high capacity and supply and not using it (sitting idle)

We explored why pathogenic variants are present in the gnomAD database for early-onset, severe, dominant conditions. Explanations identified for most but some likely due to incomplete penetrance though more study needed. 1/3

New concept for variant effect prediction. 'How bad' is the new 'how rare'. With DNA LMs we can ask how important a variant is for predicting other bases. This influence score correlates better with functional assays. This was not possible with alignment-based conservation.

The GENOMIT Consortium is meeting this days in Barcellona (Spain). Different expertise, different skills, different countries: together to shed light on mitochondrial diseases. #MitoAwareness

Hypoxia in a pill! Chronic, continuous 11% FIO2 suppresses brain pathology in models of mitochondrial disease and aging, but we need practical alternatives. We combine a Hb "left-shifter" with a HIF2a inhibitor to achieve therapeutic hypoxia in mice. jci.org/articles/view/…

RNA sequencing resolved >1/4 of splicing-related VUS in hereditary cancer testing, improving variant classification and potentially enhancing cancer risk management and treatment strategies bit.ly/4jFjXcz #GIMO #RNASequencing #VUS #HereditaryCancer