Giulia Del Gobbo

Postdoc @C4RCanada @CHEO | PhD Medical Genetics @UBC | Genomics, rare disease, development, & more | ♡ science, mountains, good food

[Stephan Zuchner, MD, PhD @szuchner]

this is NOVEL and very intriguing: we identified a common sequence alteration that predicts the stability of the adjacent tandem repeat locus of one of the major genetic ataxia loci, FGF14/SCA27B.
https://t.co/rMcbifjqBR
@NAF_ataxia @davidPellerin_2 @Egor_Dolzhenko #bernardBrais #MattDanzi
RFS: reference 5’-flanking sequence
CFV: common 5’-flanking variant

[Giulia Del Gobbo @giuliadelg]

Pretty cool as a still relatively recent addition to the team to clearly see the impact that @C4RCanada has had over the past decade, and continues to have every day. Honoured to get to play even a teeny part in it - congrats on 10 years! 🎉

[Meredith Gillespie @MeredithG23]

A decade of @C4RCanada and a decade of finding answers for families! Check out the full publication and read about just some of the successes of this program here: https://t.co/pLztLVhtNk

[Giulia Del Gobbo @giuliadelg]

Been quiet on here since I’ve been so caught up in the excitement of #ASHG2022! Come say hi @ poster # 2322 to learn about how we used @PacBio long read seq to uncover an intronic SVA insertion associated with an unsolved 46,XY disorder of sexual development with @C4RCanada 🙋🏻‍♀️

[Giulia Del Gobbo @giuliadelg]

@SamanthaLWilson @McMasterOBGYN @machealthsci Congratulations Sam, this is incredible news!! They are lucky to have you! So excited for you, I can’t wait to see the awesome work that will come out of the Wilson lab! (ah!!) 😍

[Giulia Del Gobbo @giuliadelg]

Look ma, we’re fitting in!

So thankful to have such awesome volunteer-run trails right in our backyard ☺️

[RideauWinterTrail @RideauWinter]

Nice to meet happy trail users out on this beautiful sunny day. ☀️❄️

[Giulia Del Gobbo @giuliadelg]

@wprobins27 🥰 so happy to have the chance to celebrate in person!

[Giulia Del Gobbo @giuliadelg]

@ftomiles @cdrawn happy to coordinate meeting up afterward if you aren’t able to find one!

[Giulia Del Gobbo @giuliadelg]

@cdrawn @UBC @wprobins27 @BCCHRTrainees @SamanthaLWilson That would be amazing, thank you so much!! Twitter to the rescue 🎉

[Giulia Del Gobbo @giuliadelg]

Hey hi hello @ubc twitter! One such graduate here who would love the opportunity to wear her UBC colours! 🙋🏻‍♀️ If you or anyone you know owns UBC PhD regalia and are willing to lend it for use Friday, I would be eternally grateful 🙏🏻 @wprobins27 @BCCHRTrainees @SamanthaLWilson

[Giulia Del Gobbo @giuliadelg]

@MEDGGSA @C4RCanada 🥰 thank you, so sad to have missed it!

[Giulia Del Gobbo @giuliadelg]

Well it’s been a minute, but I’m so happy to share that I’ll be starting as a Post-Doctoral Fellow with the @C4RCanada team at @CHEO today! Excited to continue my genetics journey and contribute to improving diagnosis and care for individuals with rare diseases! ☺️🧬

[Giulia Del Gobbo @giuliadelg]

@SamanthaLWilson Congratulations Sam!!

[Giulia Del Gobbo @giuliadelg]

@Robinson_Lab @UBC @wprobins27 @victor2wy @amy_inkster @nikita_telkar @emiliettheberge @VancityAlmas Thanks to everyone in the @Robinson_Lab both past and present who made my time in the lab so amazing 🥰🥰@wprobins27 sure knows how to pick em!

[Icíar Fernández Boyano @iciarfernandezb]

Grateful for events like today’s panel discussion of @PictureaSciFilm. Thank you so much @DrLoriBrotto, @wprobins27, Teresa Liu-Ambrose, and Veronica Hirsch for creating a space for important discussion and inspiring fellow #WomenInScience. A few takeaways to think about 🧵:

[Giulia Del Gobbo @giuliadelg]

@GeneQueenB @wprobins27 @chaini1987 Thanks @GeneQueenB I’m so glad to hear that!☺️

[Giulia Del Gobbo @giuliadelg]

@ErinAMarshall @Robinson_Lab @BCCHresearch Thanks Erin! Barely feels that long ago that we started this journey 🙈

[Giulia Del Gobbo @giuliadelg]

So very thrilled about this 🥰 I have been so lucky to work with and learn from some incredible people in the @Robinson_Lab @BCCHresearch and beyond over the course of my PhD and could not have done it without the support of this great community! #PhDone 🎉

[Giulia Del Gobbo @giuliadelg]

@Phil_A_Richmond @Robinson_Lab @BCCHresearch Thanks Phil! Still working on plans but stay tuned! ☺️

[Giulia Del Gobbo @giuliadelg]

@wprobins27 @Robinson_Lab @BCCHresearch 🥰

[Giulia Del Gobbo @giuliadelg]

@chaini1987 @Robinson_Lab @BCCHresearch Thank you Chaini! ☺️

[Giulia Del Gobbo @giuliadelg]

@jrichardalbert @Robinson_Lab @BCCHresearch Thanks Julien!