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R-Synapse @ruhrsynapse.bsky.social · 16/06/2026

#eshg2026 Time for the 2026 Award lectures! 🏅 • ELPAG Award Anne Cambon-Thomsen • ESHG Awardee Tuuli Lappalainen • Mendel Lecture by Guillaume Canaud

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R-Synapse @ruhrsynapse.bsky.social · 16/06/2026

#eshg2026 Day 4: Reza Ataei, London ON stressing relevance of circRNA in health and disease • critical role in "sponging"/absorbing miRNA • stabilization and guidance of protein • indirect evidence for ALS relevance More steps for research->clinic Chairs: Natalie Tan, @christeldepienne.bsky.social

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R-Synapse @ruhrsynapse.bsky.social · 16/06/2026

#eshg2026 Day 4: Ilaria Parenti, @unidue.bsky.social Variants in DNA binding proteins, or cohesinopathies with specific episignatures: MAU2 and interaction with CdL gene NIPL. #genetics #epigenetics #raredisease

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R-Synapse @ruhrsynapse.bsky.social · 16/06/2026

#eshg2026 Day 4: Andrew Stergachis, Seattle presenting single-cell epigenetic data of highly dynamic cell states. • Epigenomics overcomes sparse data restraints • Solves Mendelian disorder cases #genetics #epigenetics

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R-Synapse @ruhrsynapse.bsky.social · 15/06/2026

#eshg2026 Day 3: Variants we almost missed. Great interactive session with difficult to assess cases. CNV, variants frequent in population and yet (recessive) disease causative. Including longread data from @radboudumc.bsky.social #genetics #diagnostics

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R-Synapse @ruhrsynapse.bsky.social · 15/06/2026

#eshg2026 Lightning sessions: Bioinformatics & more in full progress with cancer Single-Cell data, kidney gene association studies and pangenome haplotype diversity in CYP genes. #genetics #bioinformatics

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R-Synapse @ruhrsynapse.bsky.social · 15/06/2026

#eshg2026 Day 3: Use it or lose it: example of body symmetry in reproductive organs. Pseudogene prevalence across evolution, here avian and reptiles reflects biological changes, including novel factors CIROP+CIROZ.

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R-Synapse @ruhrsynapse.bsky.social · 15/06/2026

#eshg2026 @claucarvalho.bsky.social presenting new discoveries of large inversions in the genome in neurodevelopmental disorders, e.g. Coffin-Siris Syndrome complex rearrangement of ARID1B region #genetics #neuroscience

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R-Synapse @ruhrsynapse.bsky.social · 15/06/2026

#eshg2026 Long-read session: Adam Phillippy, @johnshopkins Univ reporting on clinical effects of large DNA events, focusing on acrocentric regions that aren't resolved in e.g. Hg38 ref genome. #genetics

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R-Synapse @ruhrsynapse.bsky.social · 15/06/2026

#eshg2026 Day 3: Anna Lindstrand and Alexandre Reymond kicking off the long-read session.

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R-Synapse @ruhrsynapse.bsky.social · 14/06/2026

#eshg2026 Day2: Elsa Leitao, Essen presenting #ReNUSyndrome non-coding variants data, focusing on RNU2-2. • gradient model, bridging categories of autosomal-dominant and -recessive disease • patient phenotyping of neurodev. disorder, #epilepsy Chairs: @christiangilissen.bsky.social, Rebeka Luknarova

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R-Synapse @ruhrsynapse.bsky.social · 14/06/2026

#eshg2026 Day 2: Pilong Li, Beijing. TCF4 neurodevelopmental disorder: Liquid phase transition as measured by nuclear imaging and brain organoid development correlates with patient severity. SNV appear to be more severe, however on a spectrum for SV and SNV. #genetics #neurogenetics

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R-Synapse @ruhrsynapse.bsky.social · 14/06/2026

#eshg2026 Day 2: Denis Hnisz, Berlin: genomic architecture of intrinsically disordered regions (IDR). HOXD13 repeat expansions, HMGB1 fs causing complex malformations in patients. Nuclei are mispartitioned at cellular level in several other gene's frame shift effects.

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R-Synapse @ruhrsynapse.bsky.social · 14/06/2026

#eshg2026 Amandine Santini, Rouen: progress of the Epi2Diag project · comparison of methods · sensitivity vs. specificity Analysis of 29 genes in focus, follow her work for updates on RNU4-2, 2-2 with @nickywhiffin.bsky.social @christeldepienne.bsky.social and work on CHD3, +CdL genes #genetics

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R-Synapse @ruhrsynapse.bsky.social · 14/06/2026

#eshg2026 Day 2: Stephan Zürchner, Miami Miller Sch. of Medicine presenting detection of novel disease-associated #repeatexpansions. · population data: All of us 400k genomes · healthy group w/ expansions in FGF14, protective mechanism · pathogenic repeats through linkage analysis, founder effects

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R-Synapse @ruhrsynapse.bsky.social · 13/06/2026

#eshg2026 Plenary Emma Lundberg, Sweden on protein consequences of missense variants. Screen identifies many novel ciliopathy genes/proteins. #genetics #proteomics

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R-Synapse @ruhrsynapse.bsky.social · 13/06/2026

#eshg2026 Plenary talk by @nickywhiffin.bsky.social on non-coding RNA, the incredible journey of RNU4-2 research and the powerful role of patient organizations. Mentorship+teamwork are drivers of innovation, enabling discovery of more splice factors underlying human disease. #genetics #science

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R-Synapse @ruhrsynapse.bsky.social · 13/06/2026

#eshg2026 Welcome session @ahoischen.bsky.social welcoming >2000 participants to Gothenburg, Sweden for the annual conference. Acknowledging the years of work by Alexandre Reymond for the society, and finally presenting this year's Bingo card. #genetics #science

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R-Synapse @ruhrsynapse.bsky.social · 13/06/2026

#eshg2026 Day1: Neurogenetics session Bryce Rampal from @umontreal-en.bsky.social presenting Ox/Phos deficiency caused by bi-allelic THAP12 variants resulting in epilepsy. Further data on mitochondrial effects and metabolism coming! Chair: Tjitske Kleefstra, former @radboudumc.bsky.social colleague

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R-Synapse @ruhrsynapse.bsky.social · 13/06/2026

#eshg2026 Day1 X-Inactivation session Greg Barsh @stanforduniversity.bsky.social on the peculiar X-Linked mechanism behind tortoiseshell cat fur patterns. Session chaired by Alexandre Reymond and @christeldepienne.bsky.social

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R-Synapse @ruhrsynapse.bsky.social · 08/05/2026

#DICE2026 Day 3: Following precision medicine breakthroughs, Helen Cross (UK) gives an overview of and an outlook to the age of personalized medicine in #epilepsy. Challenge: heterogeneity of syndromes - models only capture fractions of the clinical phenotypes. #genetics

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R-Synapse @ruhrsynapse.bsky.social · 07/05/2026

#DICE2026 Day2: How many Epilepsy genes can you name? Data science approaches to harness ClinVar, ClinGen, ILAE entries towards global health Research in #raredisease: MONDO disease ontology (722, 196 with high confidence). -> 81% pathogenic variants recorded in top 50 genes #genetics #epilepsy

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R-Synapse @ruhrsynapse.bsky.social · 06/05/2026

#DICE2026 Opening lecture: Ingrid Scheffer, Melbourne providing state of the art information on Developmental and Epileptic Encephalopathies (DEE). And 'RNU hope in gene discovery' #ReNUSyndrome #genetics

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R-Synapse @ruhrsynapse.bsky.social · 03/03/2026

@nickywhiffin.bsky.social presenting her discovery of non-coding #RNA RNU4-2 as a highly frequent cause of epilepsy. Biochemical + population #genetics methods will drive further discovery. Host: @christeldepienne.bsky.social #ReNUSyndrome #raredisease

Lecture room at university clinics Essen.

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R-Synapse @ruhrsynapse.bsky.social · 03/03/2026

Great presentation by @nickywhiffin.bsky.social at Uniklinikum Essen today: overwhelming number of novel variants in 5‘UTR variants, promotor deletions discovered, a major overlooked cause of neurological disorders. Host:@christeldepienne.bsky.social #genetics #genomics #raredisease

Lecture room with slideshow 'The non-coding genome in rare disease'

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R-Synapse @ruhrsynapse.bsky.social · 15/01/2026

#Varvis user Meeting #Genetics data analysis in 2026: Varvis + AI = J.A.R.V.I.S.? Excited to see innovation especially long-read data interpretation @nanoporetech.com @pacbio.bsky.social #Ironman #science @uni-goettingen.de

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R-Synapse @ruhrsynapse.bsky.social · 27/05/2025

I'm grateful for all the scientific exchange at #eshg2025 in a beautiful setting, the city of Milan. Thanks to the organizers @eshg.bsky.social @eshgyoung.bsky.social and geneticists for broadening my horizon like @christiangilissen.bsky.social @cwlaflamme.bsky.social @svergult.bsky.social (1/2)

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R-Synapse @ruhrsynapse.bsky.social · 26/05/2025

Repeat expansion detected by @cwlaflamme.bsky.social through methylation, long-read and population data. (@hcmefford.bsky.social lab research, gene name hidden ->unpublished study) #eshg2025 @eshg.bsky.social #epilepsy #raredisease

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R-Synapse @ruhrsynapse.bsky.social · 26/05/2025

Daniella Hock, U Melbourne: proteomics diagnostics in rare disease. Fascinating ECHS1 #epilepsy synonymous + del compound heterozygous variant w/ founder effect/regional polymorphism. Rapid proteomics testing ~$1.000, cave(!) fibroblast/tissue cultivation time. #eshg2025 #genetics #proteomics

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R-Synapse @ruhrsynapse.bsky.social · 25/05/2025

Musa Mhlanga presenting on non-coding genetics in adaptive immunity. Links to metabolic pathways: glycolysis, OxPhos. Silencing lncRNA as therapeutic inroad in regulatory deficiencies causal for immune deficiencies. #eshg2025 @radboudumc.bsky.social co-chaired @christeldepienne.bsky.social

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R-Synapse @ruhrsynapse.bsky.social · 25/05/2025

Great long-read panel chaired by @christiangilissen.bsky.social ending with insights on de novo assembly with examples of graph visualization. Wolfram Höps: "Larger pieces make for an easier puzzle" 🐦 #eshg2025 #genetics #sequencing @pacbio.bsky.social @nanoporetech.com @radboudumc.bsky.social

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R-Synapse @ruhrsynapse.bsky.social · 24/05/2025

📢📢📢 Paper alert 📢📢📢 Proud to present my proof-of-principle for catching novel disease-associated genes with #single-cell co-expression. #epilepsy #neuroprotection #genetics #brain journals.biologists.com/dmm/article/...

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R-Synapse @ruhrsynapse.bsky.social · 24/05/2025

Best coffee award #eshg2025: ThermoFisher & Lavazza 😋

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R-Synapse @ruhrsynapse.bsky.social · 18/03/2025

Grateful to take part in the Brain Awareness Week 2025. #neuroscience #brain #epilepsy

Scientist pointing at depiction of nerve cells proteins.

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