hamidah.ghani

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hamidah.ghani

hamidah.ghani

@idahry1

MSCA NeuroInsight Fellow at @RCSI_Irl | @Futureneuro_ie | Epilepsy

Dublin City, Ireland Katılım Temmuz 2020
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FutureNeuro Centre
FutureNeuro Centre@Futureneuro_ie·
🎉Thrilled to officially launch @Neuroadapt_RCSI today! This €2M programme, co-funded by the EU’s MSCA & FutureNeuro, will train 11 postdocs in cutting-edge neuroscience—from gene therapy to precision medicine— all to improve patient care. Find out more: futureneurocentre.ie/neuroadapt/
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CNAG
CNAG@cnag_eu·
📢New paper out in @ejhg_journal! 🔬An innovative genetic analysis by @SJDbarcelona_es and CNAG has successfully diagnosed 23 children with neuromuscular diseases, some waited over 8 years for a diagnosis ➡️cnag.eu/news/innovativ…’s-hospital-and-cnag-successfully-diagnoses
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Veera Rajagopal 
Veera Rajagopal @doctorveera·
Polygenic basis of monogenic neurodevelopmental diseases. Identifying common variant contributions to a collection of heterogeneous rare neurodevelopmental conditions is interesting, but finding it difficult to appreciate the biological basis of this contribution. Fascinating work nevertheless. Huang, Wigdor, et al. Nature nature.com/articles/s4158…
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Genomics Data Science - SFI CRT
REGISTRATION for VIBE-ICBG24 now OPEN ! Fantastic opportunity for early career researchers in genomics/bioinformatics/comp biology to present their work and connect with other PhD students and researchers in the field! Taking place on 5th and 6th Dec @uniofgalway !
VIBE/ICBG Conference 2024@VIBE_ICBG2024

🚨 REGISTRATION NOW OPEN!! 🚨 Register now for VIBE/ICBG 2024, taking place in Galway this December! FREE registration if you submit an abstract! 🕑 Deadline for abstracts: 25th October Register: tinyurl.com/vibeicbgregist… Abstracts: tinyurl.com/vibeicbgabstra… #VIBE2024 #ICBG2024

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Kartik Chundru
Kartik Chundru@kartikchundru·
I'm very excited to have our work on recessive developmental disorders published at @NatureGenet! See here for the tweetorial (x.com/kartikchundru/…). There were some exciting updates during the reviews which I'll highlight here... (1/n) sanger.ac.uk/news_item/most…
Kartik Chundru@kartikchundru

Our work describing the recessive coding contribution to developmental disorders across genetic ancestry groups is on medRxiv! We combined research (Deciphering Developmental Disorders) and industry (@GeneDx) data to look at the effect of recessive variants in 29,745 trios! (1/)

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FutureNeuro Centre
FutureNeuro Centre@Futureneuro_ie·
Thrilled to see so many of the @Futureneuro_ie team at #ISHG2024 yesterday! Special shout out to our brilliant poster presenters, including PhD student @idahry1 and summer intern Richard O'Conaill, who won best clinical poster for his work on CINDI! 👏🎉 @Solve_RD
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Veera Rajagopal 
Veera Rajagopal @doctorveera·
A Sunday read for you. A new blog post on a discovery of a noncoding mutation that causes a Mendelian cardiac arrhythmia through a fascinating mechanism: de novo creation of cardiomyocyte-specific enhancer. This adds to the list of my favorite noncoding discoveries that I've highlighted over the past couple of years. Two take homes for me are - when searching noncoding disease variants, we tend to look at regions previously known to play a regulatory role (promoters, enhancers etc.). This work reminds us of the possibility that disease variants might be creating a new regulatory element themselves. - when searching for causal genes, we tend to look at only those that are expressed in the disease-relevant tissues. This work reminds us that causal genes can be the ones that are not expressed in disease-relevant tissues. Sometimes the answers come from places where we least expect to find. Congratulations to the authors on this beautiful work! gwasstories.com/p/de-novo-enha…
Jim R. Hughes@jrmmhughes

Great collaboration between the @FoldingGenome and Watkins labs, reporting the first Gain of Function de novo enhancer causing Mendelian disease (ST Depression Syndrome), defining a multidisciplinary path with ML to solving non-coding clinical genetics. medrxiv.org/content/10.110…

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Genomics Data Science - SFI CRT
REMINDER - Submit your real world CHALLENGE to the CRT BIOHACKATHON! For more information see genomicsdatascience.ie/call-for-chall… Call open until 30th Sept
Genomics Data Science - SFI CRT@GenomicsCRT

BIOHACKATHON: Call for Challenges! The CRT is looking for challenges that can be “hacked” by teams of @scienceirel students to generate solutions while providing students with experience of working on real world challenges: Call for Biohackathon challenges - Genomics Data Science

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Kaitlin Samocha
Kaitlin Samocha@ksamocha·
In our latest work, we explore the contribution of rare, typically inherited, damaging genetic variants to the risk of severe developmental disorders (DDs) and establish a major role for incompletely penetrant rare variation. Now out on medRxiv: medrxiv.org/content/10.110…
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FutureNeuro Centre
FutureNeuro Centre@Futureneuro_ie·
🧠Interested in neuroinflammation? Join us at the next Glia Club meeting on Sept 13 at 1pm in @tcdTBSI @TrinityMed1. Our researcher @TobiasTengel is among the featured speakers. All are welcome!
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Rikke S. Møller
Rikke S. Møller@FiladelfiaGene1·
One of the missions of @EpiCARE_ERN is to promote clinical research on genetic epilepsies 🧬🧠 Check out the website for collaborative 🌍research calls incl. our recent calls on #SLC6A1 & #DIAPH1-related disorders 👇 #StrongerTogether #Epilepsy 💜 @SebileTB @EpiCARE_ERN
EpiCARE@EpiCARE_ERN

🧠News Call for collaborative genetic research on rare and complex epilepsies! ⭐Do not miss the opportunity to learn about them on the webpage. epi-care.eu/collaborative-… #HealthUnion #Research #Calls @EU_Health @EU_HaDEA

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BERNAMA
BERNAMA@bernamadotcom·
Ahlan Wa Sahlan 🇵🇸 🇲🇾 #KualaLumpur: Dua pesawat Airbus A-400M milik Tentera Udara Diraja Malaysia (TUDM) yang membawa rakyat Palestin yang cedera, selamat tiba di Pangkalan Udara Subang kira-kira pukul 2 petang tadi.
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