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Natàlia Pujol Gualdo Profile
Natàlia Pujol Gualdo

@PujolGualdo

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👩‍💻 -omics and data-driven approaches to advance women's health 📍 Barcelona (Life Sciences Dpt, BSC) 🧬 PhD in female reproductive genomics 🇪🇪🇫🇮

Joined September 2020
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@PujolGualdo
Natàlia Pujol Gualdo
3 months
RT @TheLancet: 👋 Introducing The Lancet Obstetrics, Gynaecology, & Women’s Health, a new journal dedicated to bridging clinical evidence an….
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@PujolGualdo
Natàlia Pujol Gualdo
4 months
RT @MilaniLili: Excited to share our recently published overview of the @ESTbiobank 🧬.We highlight the unique features of the biobank and t….
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@grok
Grok
2 days
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@PujolGualdo
Natàlia Pujol Gualdo
5 months
7/ Huge thanks to my amazing mentor @TLaisk and the brilliant PhD core teammates @jelisaveta_, Valentina Rukins – what a journey! 🚀 Grateful to @ESTbiobank @FinnGen_FI @genomicstartu, our collaborators & participants. Let’s keep pushing women’s health research forward! 💜.
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@PujolGualdo
Natàlia Pujol Gualdo
5 months
6/ We also explored genetic risk prediction! 🧬 @FannyDhelia developed a PRS for intrahepatic cholestasis of pregnancy (ICP)—a serious pregnancy complication, which was replicated in the HUNT study by @bnwolford. The PRS showed comparable predictive power to breast cancer PRS.
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@PujolGualdo
Natàlia Pujol Gualdo
5 months
5/ Population-specific genetic variants in Estonians & Finns helped identify novel genes for uterine fibroids. E.g. a missense variant in MYH11 which encodes for a smooth muscle myosin. A pop-specific focus is valuable, since it points at mechanisms relevant across populations.
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@PujolGualdo
Natàlia Pujol Gualdo
5 months
4/ By analyzing cross-trait genetic & phenotypic correlations, we found shared genetic factors across reproductive health conditions. This is important because identifying shared genetic mechanisms provides insights into shared and disease-specific processes.
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@PujolGualdo
Natàlia Pujol Gualdo
5 months
3/ We identified 195 genome-wide significant genetic signals, ~40% being novel. Notably, conditions with a metabolic component (e.g., some pregnancy complications) showed higher heritability (10-30%).
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@PujolGualdo
Natàlia Pujol Gualdo
5 months
2/ We analyzed genetic data from ~300,000 women in the Estonian Biobank & FinnGen to conduct GWAS meta-analyses for 42 female health diagnoses. This helped uncover risk factors & biological mechanisms behind these conditions. Follow below! ⬇️
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@PujolGualdo
Natàlia Pujol Gualdo
5 months
1/ The women’s health gap contributes to 75 million years of life lost. Yet, many female-specific conditions remain under-researched, limiting prevention, diagn. & treatment. We explore this using GWAS, which give hypothesis-free insights into biological processes.
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@PujolGualdo
Natàlia Pujol Gualdo
5 months
📢 Excited to share our study in @NatureMedicine .👉 We mapped & characterized genetic risk factors for 42 female reproductive health diagnoses. What we found & why it matters? 👇🧵.
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nature.com
Nature Medicine - This study provides a cross-trait atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.
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@PujolGualdo
Natàlia Pujol Gualdo
5 months
RT @ESTbiobank: Tremendous work by @PujolGualdo @TLaisk and team! 👏🏼👏🏼👏🏼.
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@PujolGualdo
Natàlia Pujol Gualdo
6 months
RT @solsciencia: @Qabdany11 7/n).La Natàlia (@PujolGualdo ) ens va parlar de la partitura de la genètica i l’ajuda a estudiar malalties de….
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@PujolGualdo
Natàlia Pujol Gualdo
6 months
som-hi! 🧬💙.
@solsciencia
Solsciència
6 months
Descobrirem el genoma humà amb la Natàlia (@PujolGualdo).
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@PujolGualdo
Natàlia Pujol Gualdo
1 year
RT @researchestonia: 🔬 Natàlia Pujol Gualdo is tackling POP, PCOS, and AMH Levels for Women's Health! 💪. 🧪 She is delving into the genetic….
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researchinestonia.eu
Natàlia Pujol Gualdo's thesis explores genetic factors of POP, PCOS, and AMH levels, offering insights for personalized medicine in female reproductive health.
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@PujolGualdo
Natàlia Pujol Gualdo
1 year
A fantastic day that sets an end to my PhD journey! 🥳 big thank you @TLaisk @m_reedik from @genomicstartu @unitartu + @terhip Riikka Arffman from @UniOulu 🇪🇪🇫🇮👩🏼‍💻🧬.
@genomicstartu
genomicstartu
1 year
Congratulations Dr ⁦@PujolGualdo⁩ and supervisors ⁦@TLaisk⁩ and ⁦@m_reedik⁩ - outstanding thesis and excellent defense! 🌟
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@PujolGualdo
Natàlia Pujol Gualdo
1 year
content to see this work finally out in Human Reproduction! 🥳 check it out! @terhip @TLaisk @UniOulu @unitartu.
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academic.oup.com
AbstractSTUDY QUESTION. Can a genome-wide association study (GWAS) meta-analysis, including a large sample of young premenopausal women from a founder popu
@PujolGualdo
Natàlia Pujol Gualdo
2 years
📣We've just posted a new work on @medrxivpreprint, describing novel genetic insights into circulating anti-Müllerian Hormone (AMH) levels in pre-menopausal women 👇🧵(1/n).
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@PujolGualdo
Natàlia Pujol Gualdo
1 year
☀️💙.
@solsciencia
Solsciència
1 year
🙌🏼 Solsciència és una nova iniciativa solsonina que neix amb la voluntat d’organitzar activitats de divulgació científica. 🔬Vol donar a conèixer el talent solsoní tot creant referents locals, i així fer entendre la feina que fan els nostres veïns, amigues o familiars. (1/2)
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@PujolGualdo
Natàlia Pujol Gualdo
2 years
RT @SamuelBHume: Women are 4-times more likely to have autoimmune diseases than men. Why is this? . From Dou et al. in Cell, today . In fem….
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@PujolGualdo
Natàlia Pujol Gualdo
2 years
our preprint is now out in Human Reproduction! joint work from @TLaisk @m_reedik myself + data from @ESTbiobank @FinnGen_FI .👇🏽 check out the tweetorial below from my wonderful mentor @TLaisk 😊👇🏽.
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academic.oup.com
AbstractSTUDY QUESTION. Can we identify genetic variants associated with ectopic pregnancy by undertaking the first genome-wide association study (GWAS) le
@TLaisk
Triin Laisk
3 years
Interested in the genetics of ectopic pregnancy? Read the medrxiv preprint by @PujolGualdo @m_reedik and myself where we identify the first genetic susceptibility loci for the condition (1/n).
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@PujolGualdo
Natàlia Pujol Gualdo
2 years
grateful for the chance to present our latest work studying the genetics underlying circulating anti-Müllerian hormone levels in pre-menopausal women 🤗 @aepcossociety.
@aepcossociety
Androgen Excess Polycystic Ovary Syndrome Society
2 years
Session 5: Award Lecture & Oral Presentations (chaired by: Prof. @GiacobiniPaolo & Prof. Vasantha Padmanabhan) continues w/ the presentation by @PujolGualdo 🇫🇮 . 📄 Circulating Anti-Müllerian.Hormone Levels in Pre-Menopausal Women: Novel.Genetic Insights From a GWAS.Meta-Analysis
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