Lydia Sagath

Postdoc at @Radboudumc | Genetics of rare disorders | Horse girl to heart and bone | She/they | 🇫🇮 in 🇳🇱

[Wouter Steyaert @SteyaertWouter]

I am proud and happy to present our latest Solve-RD research work at ASHG2024! Long-read sequencing in 114 undiagnosed rare disease families yields 13 novel genetic diagnoses. Poster 3076 at 2. 30 pm. @lydiasagath @gilissenc @ahoischen @Solve_RD #ASHG2024

[Lydia Sagath @lydiasagath]

Excited to share our work on structural variants in NEB! Long story short - large in-frame deletions cause an AD distal myopathy, in altogether 12 families from around the world (1/3 of the cohort). Not all NEB variants are recessive! https://t.co/XhobflY1pt

[Zev Kronenberg @zevkronenberg]

Lydia Sagath is solving the unsolvable with @PacBio HiFi. Eg. She’s found inversions with only 10-fold coverage in muscular disease.

[Lydia Sagath @lydiasagath]

Let's rock & roll 😎

[Alexander Hoischen @ahoischen]

Great session starting: C03-Structural Variants #ESHG2024!
Proud off our postdocs @lydiasagath and @Bart_vd_S presenting here.
First long-read sequencing data and optical genome mapping data of our @Solve_RD project will be presented!

[Alexander Hoischen @ahoischen]

Seems everyone from @GeneticNijmegen is totally ready for #eshg2024. Talks ready, session chairs are prepared…and everyone is keen to attend all sessions - and that’s not only because of the #ESHG2024-bingocard - thanks @lydiasagath

[Lydia Sagath @lydiasagath]

@ahoischen @GeneticNijmegen For those interested in their own bingo card: https://t.co/HYiFZXHxzQ

[Lydia Sagath @lydiasagath]

@LepistoJoonas Unelma on ollut järkätä juhlat kesällä, vaikka isot kolmekymppiset jossain, missä voi juhlia yöttömän yön läpi ulkona. Naimisiinmenoaikeita ei ole, joten kesähäitä ei tule. Sain juhlani väittelemällä tohtoriksi kesäkuussa. Eläkejuhlat seuraavat?

[Lydia Sagath @lydiasagath]

@Gianina_Natoli @mriduljohari @SigridJuselius @ahoischen @radboudumc Would LOVE to have you visit! Make sure to bring @mriduljohari with you too!

[Lydia Sagath @lydiasagath]

Unbelievably grateful to @SigridJuselius for supporting the next chapter of my career - can't wait to get to work with @ahoischen & Co at @radboudumc in April🤩

[Folkhälsan Research Center @FolkhalsanRC]

Thank you for your excellent talk, Professor Nigel G. Laing, and for taking the time to travel around the globe to attend our celebrations! #folkhälsan #FGI60 #FHRC #genetics #research #science

[Folkhälsan Research Center @FolkhalsanRC]

Join us as @lydiasagath defends her doctoral dissertation "Copy number variants in genes causing neuromuscular disorders" today at 1200 in Biomedicum lecture hall 2, Helsinki. Stream link here: https://t.co/Owo3MOqvyV

[Lydia Sagath @lydiasagath]

@LaitilaJenni (EP.041), @VilmaLotta5 (EP.036), @mriduljohari (EP.076), and I (EP.042) are hanging out in Zoom (https://t.co/ME2Ic1RfRi) for the ePoster session. Join us if you have questions, or just want to pop by and say hi! #WMS2021

[Folkhälsan Research Center @FolkhalsanRC]

Welcome to our #webinar on #genetics tomorrow at 1000 EET with. Dr. Gina Ravencroft from Harry Perkins Institute of #Medical #Research. Attending is open to anyone interested in research!
Zoom link: https://t.co/5tbWRV5L9s...
Meeting ID: 687 0401 2353
Passcode: 751077

[Lydia Sagath @lydiasagath]

#minätutkin lihastauteja aiheuttavia perimän kopiolukumuutoksia. Työssäni kehitän menetelmiä, joilla näitä voidaan havaita ja määrittää entistä paremmin, jotta yhä useammalle harvinaissairauspotilaalle löytyisi oikea diagnoosi ja hoito. @helsinkiuni @FolkhalsanRC @kulturfonden

[Lydia Sagath @lydiasagath]

The deletion was first detected through CNV analysis in NGS data, and confirmed using a custom CGH array. The mosaicism was confirmed using the same CGH array but running DNA from both blood and muscle tissues. The expression of the shorter nebulin was confirmed by western blot.

[Lydia Sagath @lydiasagath]

Our newest case report is out! We report the largest nebulin deletion recorded to date. It's a de novo mosaic deletion associated with an asymmetric distal myopathy, the first of its kind. The work was performed at @FolkhalsanRC.
https://t.co/Rz0l8FnlrL

[Lydia Sagath @lydiasagath]

@Gianina_Natoli @uwanews Congrats to Nigel! An impressive career, and an impressive cake at that, too! But was there haggis?

[Lydia Sagath @lydiasagath]

@julnicolas @mixlamalice C'est clair! L'explication qu'on a reçu est que l'editeur n'a pas trouvé (assez) de reviewers et que certains candidats potentiels n'ont même pas répondu. J'espère donc que c'est pcq tout le monde est super occupé et non pcq ils se vengent, c'est tout. :)

[Lydia Sagath @lydiasagath]

@julnicolas @mixlamalice Je ne peux qu'espérer que le fait que l'éditeur ne nous ait pas trouvé des reviewers pendant ce 4 mois d'attente n'est pas à cause d'un jeu de puissance passif-agressif entre eux et des gens qui attendent une 3ième relance. Merci sincèrement d'une jeune chercheure.

[Lydia Sagath @lydiasagath]

@mriduljohari Congratulations on the grant!! 🥳