RT @ProgressBar202_: 2025 is 50% complete.

Happy to have contributed to this study in Alzheimer's Disease! "Annexin A6 membrane repair protein protects against amyloid-induced dystrophic neurites and tau phosphorylation in Alzheimer’s disease model mice" .

RT @ProgressBar202_: 2025 is 33% complete.

RT @ScienceofPD: Researchers at @NUFeinbergMed performed a genome-wide CRISPR screen & identified candidate genes that modulated #Parkinson….

@NUFeinbergMed @NMNeurology @NorthwesternMed @NorthwesternU.

and that loss of function variants within their genes contribute with higher risk to Parkinson's disease. Congratulations to the lead authors and amazing colleagues Georgia Minakaki and Nathaniel Safren!.

Excited to see this out! It was an honor to being able to contribute to this groundbreaking study published in @ScienceMagazine. We show that the COMMANDER complex regulates lysosomal activity.

RT @esaagar: So uh, 15 million DNA samples are now just available to the highest bidder?

RT @ProgressBar202_: 2024 is 100% complete! Thank you all for following, and have a nice 2025!

RT @Brain1878: Genetic variants identified through GWAS explain only a proportion of the heritability of Parkinson’s disease. Cisterna-Garc….

Would like to give special thanks to all our collaborators that made this study possible!.

the immune system. We expect that future research could help to elucidate the combined effect of these epistatic signals for better risk management of PD patients, and to provide more functional insights to identify novel therapeutic targets. @NorthwesternU.

-including different ancestries in genetic analyses for better risk interpretation. At the functional level, we observed that the interacting variants affect the expression of nearby genes, which are significantly enriched in pathways related to-.

-significantly increased the risk of PD in patients harboring specific combination of alleles, and also showed different patterns of risk/protection in cohorts of different ancestry such as the @LARGE_PD cohort with PD patients of Latino descent, highlighting the importance of-.

We next analyzed our top 14 epistasis signals in four independent GWAS cohorts (13,377 PD cases and 413,789 controls) and found successful replication for three signals: two nearby Alpha-synuclein, and the third between the genes MAPT and WNT3. These epistatic interactions-.

which allowed us to select the top 100 PD associated variants from our GWAS cohort and run a pairwise epistasis analysis with the rest of the millions of variants present in their genomes. This enabled us to lower the burden of multiple testing , thus enhancing discovery.

Here we have performed a Genome-Wide Association Analysis of variant-variant interactions (epistasis) in Parkinson's Disease cohorts totaling 14,671 cases and 17,667 controls of European descent. Here we introduce a newly developed tool named VARI3

Happy to share our latest article published in @Brain1878 Honored to have led this study with Alejandro Cisterna @ACisternaGarcia, with great support from Steven Lubbe @vuvuzelo1 and Juan Botia @juanBotiaBlaya. @NUFeinbergMed @NMNeurology @NM_Movement.

RT @lpachter: Someone claimed this figure was published in @NatureRevGenet. I did not believe them. I was wrong.

Honored to have contributed to this awesome new study. We showed that an increase of A-to-I RNA-editing may contribute to early, initial stages of synaptic degeneration in PD. Many thanks to the Mazzulli's lab and Steven Lubbe @vuvuzelo1 @NMNeurology.