Anne Goriely retweeted
What’s it like to be told your child has a genetic condition caused by a de novo (new) genetic change? Did it impact how you felt about having more children? Our NIHR-funded interview study at the University of Oxford is now open to participants. #genetics #diagnosis #DeNovo
🚨Opportunity for parents who have a child with a condition caused by a de novo genetic change. Were you offered a personalised PREGCARE assessment or provided with standard recurrence risk counselling and NOT offered PREGCARE?
Contact alison.kay@imm.ox.ac.uk for more info
1
5
8
535
Anne Goriely retweeted
#IPNA2025
Update on Inherited Diseases:
Awesome speakers this morning. I gave a quick rundown on which children to test!
Paeds Nephro is really using genomics to benefit our patients!
Time for #Africa to adopt #genomics in kids kidney care!
@RareGenomicsRSA >50% diagnosis!
8
5
16
681
RT @EricTopol: Genetic underpinnings of menopause age and connections with cancer risk, new mutations in children and reproductive longevit…
13
Anne Goriely retweeted
🚨 Job alert
Hiring a postdoc (comp or wet lab) to work on chromatin & genetics 🧬
Come work with us @HumanGeneticsOx in the beautiful @UniofOxford
🗓️ Closing September 13th
Details at beagrielab.com/join
Pls share and RT!
#PostdocJobs #GeneticsJobs #genomics #cohesin
21
21
5,425
Anne Goriely retweeted
📢Online now!
📰SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
🧑🤝🧑@katherineawood9 @AGoriely & colleagues
cell.com/ajhg/fulltext/S0002…
3
5
737
Anne Goriely retweeted
⚽️ Kicking off #ESHRE2024 annual conference with @JanStukenborg speaking at the pre-congress course on #FertilityPreservation. Looking forward to 4 days of reproductive medicine 🥅
8
28
1,213
Anne Goriely retweeted
Pregnancy decisions can be hard after having a child w/ a genetic condition. Latest @Gorielylab research on a new strategy:“Professionals’ views on providing personalized recurrence risks for de novo mutations”@AliMakesHay JWells @AGoriely NHallowell bit.ly/4cgOr0o 1/10
1
5
11
1,125
Anne Goriely retweeted
📢New from @alistairp2011 & colleagues
📰The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
#genomes100k
cell.com/ajhg/fulltext/S0002…
10
29
4,099
Anne Goriely retweeted
Heading to Denver for NATW and the American Society of Andrology Annual Meeting. Truly honored to deliver the keynote address.
1
15
371
Anne Goriely retweeted
Yuyang identified a highly recurrent de novo variant in @GenomicsEngland, in 46 individuals, all with undiagnosed NDD. It was not in any diagnosed probands, or unaffected individuals in GEL. It is absent from population cohorts, apart from a single individual in UK Biobank. 3/n
6
22
3,179
Anne Goriely retweeted
Is genetic disposition to #dyslexia associated with brain structure? @neurosoren investigated in over 30,000 adults using data from @uk_biobank & @23andMeResearch , highlighting brain networks involved in motor, language and vision functions medrxiv.org/content/10.1101/… 1/8 ⬇️
3
14
43
8,383
Anne Goriely retweeted
🚨 We are looking for males (or a parent) who have had #ChildhoodCancer 🚨to help us design a new resource to help other young males to make decisions about their future #Fertility. Interested? 👉 bit.ly/3StdXYS
9
6
2,454
Anne Goriely retweeted
Applications are now OPEN for an internship in my group at Oxford University. Open to UK undergraduates from under-represented and disadvantaged backgrounds – apply by Wednesday 21 February 2024 to join us this summer: ox.ac.uk/admissions/graduate…
8
11
2,509
please RT
💡 Want to showcase your research findings in front of hundreds of industry leading scientists and reproductive biologists? 📣 SSR is NOW accepting abstract submissions for the 2024 Annual Meeting! Submit yours now! ➡️ brnw.ch/21wFx1X
#SSR2024 #reproduction #biology
1
149
Anne Goriely retweeted
Save the date for the Pre-Conference Symposia on July 15-16, 2024! Join us for the 1st International Domestic Animal DoHad and Epigenetics Symposium. Check out the flyer to learn more! 👉 brnw.ch/21wGcHi #SSR2024 #ReproductiveScience
12
27
2,028
Anne Goriely retweeted
Our organisers will be presenting their work or leading discussion panels- join them in giving a platform presentation.
The deadline for abstract submission is in 3 days!
Register at mutationmeeting.com
3
5
602
Anne Goriely retweeted
If you've experienced male infertility, you could help shape future research in this area by completing the attached (quick) survey form. It's part of the PPIE process for a new study. Please RT: docs.google.com/forms/d/e/1F…
19
17
2,856
Anne Goriely retweeted
We want to ensure that anyone affected by a rare chromosome or gene disorder can access information & support , regardless of their background. We're delighted to have reached the milestone of translating 500 of our information guides into languages other than English. 1/2....
3
14
47
3,975
Anne Goriely retweeted
It is a lot of responsibility but also a lot of fun to be part of the judging panel of the Royal Society-Trivedi Science Book Prize of 2023.
Here is the shortlist, a wonderful collection of outstanding books. Find more about it here royalsociety.org/grants-sche…
10
53
4,648