Geneticist in https://xitter.cf/t.co/wn6N4d6FSw @sangerinstitute working now on #IBD - BVSc MSc PhD - She/Her #womenInSTEM - Spaniard/Galician
Cambridge, England
Joined May 2016
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Laura Fachal retweeted
Predicting inflammatory bowel disease (IBD) flares remains a major clinical challenge.
Constantine-Cooke et al. present "Associations between demographic, clinical and dietary factors and flares in inflammatory bowel disease: the PREdiCCt prospective cohort study" via
bit.ly/4w8rkz8
Drawing on the large prospective PREdiCCt cohort, this study examines how demographic characteristics, clinical features and dietary habits influence the likelihood of disease relapse. The findings improve understanding of potentially modifiable environmental risk factors and may help clinicians better identify patients at increased risk of future flares.
#IBD
Laura Fachal retweeted
Predicting inflammatory bowel disease (IBD) flares remains a major clinical challenge.
Constantine-Cooke et al. present "Associations between demographic, clinical and dietary factors and flares in inflammatory bowel disease: the PREdiCCt prospective cohort study" via
bit.ly/4w8rkz8
Drawing on the large prospective PREdiCCt cohort, this study examines how demographic characteristics, clinical features and dietary habits influence the likelihood of disease relapse. The findings improve understanding of potentially modifiable environmental risk factors and may help clinicians better identify patients at increased risk of future flares.
#IBD
Laura Fachal retweeted
🎯 If clinicians could predict #IBD disease course, they could match patients with #TargetedTreatments, said Dr. James Lee @TheCrick.
🧬 A genetic marker may predict outcomes, including:
✅ Earlier onset of #complications
✅ Surgical interventions vist.ly/59upq
Laura Fachal retweeted
A senior staff scientist at @fredhutch, Dr. Irini Topalidou, is the first winner of the Genetics Society of America Mentorship Award who isn’t a principal investigator or faculty member.
Congratulations Dr. Topalidou! bit.ly/4oVujI5
Laura Fachal retweeted
“People’s symptoms are real - they’re not imagined, they’re not invented. Just because we don’t find abnormalities on tests, it doesn’t mean there’s nothing wrong.”
- Professor Peter Irving on the importance of validating IBS symptoms in #IBD.
Podcast episode coming soon!
ALT IBS in IBD graphic for Wrestling the Octopus: The IBD Patient Podcast. Interview with consultant gastroenterologist, Professor Peter Irving
Laura Fachal retweeted
Publication alert from uk 🇬🇧 #IBD group
Delighted to support this @IBD_BioResource analysis led by @Dr_James_Lee @FachalLaura @DrNickKennedy
Potential for true translation from bench to bedside
Full text here in @LancetGastroHep
thelancet.com/action/showPdf…
Laura Fachal retweeted
🆕HLA-DRB1*01:03 in patients with inflammatory bowel disease: a genotype–phenotype association study
thelancet.com/journals/langa…
#GITwitter #IBD #MedTwitter
Laura Fachal retweeted
This new paper is probably the most prominent example to date of how linking genetic variation to cell-level, rather than tissue-level, gene expression can transform the interpretation of GWAS signals.
The study generates a single-cell eQTL resource from intestinal biopsies and blood samples from 421 individuals, including 125 with inflammatory bowel disease (IBD)👇
Laura Fachal retweeted
Menuda chorradas ! Gracias a estos impuestos mi familia no quedó arruinada tras dos cánceres y pudimos ir a la universidad. además han financiado mis contratos y varios proyectos como investigadora que han permitido mejorar el diagnóstico genético de #enfermedadesraraas.
Laura Fachal retweeted
🧬 ¿Por qué algunos pacientes siguen con fatiga años después del tratamiento del cáncer?
Un nuevo estudio en cáncer de próstata apunta a un posible componente genético.
Hilo 👇
rdcu.be/flpL6
Calling out to @fgomollon @Bealoquebea and the broader IBD community, we finally we have two preprints to share!
I’m really looking forward to hearing your thoughts on them…
Laura Fachal retweeted
Integrating publicly available ibdseq.broadinstitute.org summary statistics, Open Targets L2G, and FinnGen data
Impressive breakdown of therapeutic hypotheses and targets for inflammatory bowel diseases, Crohn's, and ulcerative colitis
dropbox.com/scl/fi/x5isftvsq…
cc @rplenge @doctorveera @phylo_bio
pubmed.ncbi.nlm.nih.gov/4204…
Mechanisms of inflammatory bowel diseases:Insights from human genetics and chemical biology
Laura Fachal retweeted
Pleased to announce that our paper, Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases, is now officially published by @AJHGNews.
A quick 🧵 below:
cell.com/ajhg/fulltext/S0002…
#recessive #GWAS #metaanalysis #genomics
Laura Fachal retweeted
This new preprint by Open Targets is one of the most comprehensive efforts to date to connect the dots across all available (>100K) GWAS datasets that have been generated over the last two decades👇
Laura Fachal retweeted
As a companion to the GI genetics paper, we wrote up some results from the phenotypes we recorded. We see enormous variation in phenotypes across the country, with ethnicity contributing significantly to variation. 1/medrxiv.org/content/10.64898…
GIP results are out. The beauty of human diversity in India hasn't faded a bit. Out of the 5000-odd communities, the largest genetic dataset for India includes only about 80 pops. This means these results are just 1.6% of the whole story 1/n #india
medrxiv.org/content/10.64898…
Laura Fachal retweeted
GIP results are out. The beauty of human diversity in India hasn't faded a bit. Out of the 5000-odd communities, the largest genetic dataset for India includes only about 80 pops. This means these results are just 1.6% of the whole story 1/n #india
medrxiv.org/content/10.64898…
Laura Fachal retweeted
A neurocientífica galega Ana Dorrego Rivas (@adorrego_r) investiga as neuronas do bulbo olfactivo dende o King's College de Londres para entender mellor os mecanismos que desencadean as enfermidades neurodexenerativas e os trastornos do desenvolvemento.
gciencia.com/investigacion/a…
Laura Fachal retweeted
For many women, endometriosis and IBD are deeply intertwined, yet under-recognized.
Research shows #endometriosis is more common in those with #IBD, and women with endometriosis face a higher risk of developing IBD. Emerging evidence also points to shared immune pathways, which may help explain the overlap. Symptoms can mirror each other, often delaying diagnosis and care.
This Endometriosis Awareness Month, we’re pushing for greater recognition, better research, and earlier, more accurate diagnosis.
Laura Fachal retweeted
There is a reason I have consciously stayed clear of training and using large AI models in biology before understanding precisely how & what smaller incarnations learn. Here is the fundamental problem 1/
