Should be working on my talk for #HGSA2025
Miss 7 had other ideas. Painting, itβll be fun they said #procrastipainting
@ginaravenscroft.bsky.social
Rare & neuromuscular disease researcher at UWA & the Harry Perkins Institute, Perth π¦πΊ Passionate about #sciencefunding, #womeninSTEM, #EMCRs Mum of π¦π§πΆ Posting about genomics, rare disease, PI life & wine https://www.ravenscroftlab.com
Should be working on my talk for #HGSA2025
Miss 7 had other ideas. Painting, itβll be fun they said #procrastipainting
is there any way to find details of an individual with a variant in #gnomADv4 One allele in 1.6M....
30.07.2025 09:52 β π 2 π 0 π¬ 0 π 0Following our God Complex story on #4Corners on Monday on issues including gender politics of neurosurgery, #surgeon and fmr AMA Vic President Dr Jill Tomlinson lamented that of Epworthβs 25 neurosurgeons, none are women. This was #Epworth neurosurgeon Paul DβUrsoβs (now-deleted β π€·π»ββοΈ) reply:
23.07.2025 12:42 β π 87 π 23 π¬ 13 π 2Sapphire has been down a large part of the day *sigh* #NHMRC #hungergames
23.07.2025 11:36 β π 1 π 0 π¬ 1 π 0Master 11βs starter word on worldle is sigma
23.07.2025 10:46 β π 0 π 0 π¬ 0 π 0Lab curry potluck #teamsthateattogether
21.07.2025 07:03 β π 2 π 0 π¬ 0 π 0Congrats to all involved with this study associating mono-allelic POLR3A variants with #peripheralneuropathy.
So good to catch up with some of the key players at #ESHG2025 Milan where Jevin Parmar presented the study on behalf of the collaborative team #raredisease #CMT
Writing #NHMRC #investigatorgrant during school holidays #momademia #womeninSTEM
16.07.2025 06:37 β π 6 π 1 π¬ 0 π 0*carrels
15.07.2025 06:44 β π 1 π 0 π¬ 1 π 0A hive of activity in the cartels today #teamwork #raredisease #genomics
15.07.2025 06:43 β π 3 π 0 π¬ 1 π 0#naturescapes #outofoffice
12.07.2025 06:02 β π 3 π 0 π¬ 0 π 0Also, check out the News & Views summarizing our findings, written by Youjia Guo & @themodzlab.bsky.social π€©π€©
www.nature.com/articles/s41...
Out of office
#LSmerchants #hoipolloiorange #margaretriverregion #naturescapes
Young Archie competition 2025: Australiaβs awards for child portrait artists β in pictures
05.07.2025 02:04 β π 15 π 4 π¬ 2 π 0Dear academics: you canβt take your H-index with you.
04.07.2025 15:56 β π 0 π 0 π¬ 0 π 0The dystonin gene encodes three major isoforms: DST-a, -b, and -e. Jacob et al. report that variants exclusively affecting DST-b cause an autosomal recessive congenital myopathy, while variants that also affect DST-a cause a lethal contracture syndrome. tinyurl.com/3p99pu9j
03.07.2025 09:49 β π 1 π 2 π¬ 0 π 0Revisiting sacred Wednesdays (just for a few hours this morning) - we both needed it today #womeninSTEM #puttingoutfires #leadingishard
02.07.2025 01:22 β π 7 π 0 π¬ 0 π 0Some nights require brandy #wiseestate #beautifulstranger
30.06.2025 12:06 β π 1 π 0 π¬ 0 π 0Even stunning in winter #Perth #thinkingtime #NHMRC #grantwriting
29.06.2025 04:01 β π 3 π 0 π¬ 0 π 0Congrats Dr Mridul Johari on this important study, huge thanks to the many collaborators and the patients and their families. We describe a large cohort of patients with mono- or bi-allergic variants in TUBA4A and myopathies, some presenting at birth. #myopathy #raredisease
29.06.2025 00:53 β π 4 π 0 π¬ 0 π 0They come like that from the shop, they are sweet and sour pairs
27.06.2025 06:45 β π 1 π 0 π¬ 1 π 0Sharing my love of DNA and genomics with a cohort of yr6 kids.
Knackered after 3 classes back to back and hats off to teachers everywhere.
We extracted 𧬠from π and made 𧬠helices from haribo base-paired bears. Great questions from all the kids and so much engagement
New #hmg_journal paper: Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy. #Myoblue tinyurl.com/2xusbna7
24.06.2025 11:42 β π 3 π 1 π¬ 0 π 0Wonderful to finally have Dr Sanam Mustafa back in Perth with the @perkinsinstitute.bsky.social seminar. Talking about applying GPCR-based tools to Toll receptors to better understand pathways involved in #chronicpain
Sanam was a postdoc in the Pfleger lab at WAIMR/Perkins 2009-11
This arrived today, couldnβt have arrived at a better time. #jacindaardern #kindness #leadingwithvunreability
23.06.2025 14:16 β π 2 π 1 π¬ 0 π 0My interview with @mothersinsci.bsky.social is out!
www.mothersinscience.com/journeys/adr...
I met Atul once, after a phenomenal talk in Perth some 10-15 years ago. He left such an impression on me, I still recall much of what he said that day - about the need to down pipettes and mine data already generated.
Tonight I am sad and I didn't even know the man.
He sounds truly remarkable.
My #careerdisruptions are officially over, I've been F/T since 2021. Calculated total career disruptions one last time, only 1054 days = 2.9 years (2 x mat leave and 0.6-0.8 for a number of years). Can't believe that is all it was. I should have given us more time #NHMRC #grantwriting #momademia
13.06.2025 02:21 β π 4 π 0 π¬ 0 π 0#NHMRC Investigator Grant guidelines include details on increased flexibility! Able to extend grants by up to 2 years if one experiences career disruptions! A great step forward for equity and #womeninSTEM
05.06.2025 01:56 β π 12 π 0 π¬ 1 π 0Once had someone send me a poem theyβd written as part of their journal club, about one of our papers.
04.06.2025 10:39 β π 4 π 0 π¬ 0 π 0