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Hena Jose @henajose.bsky.social · 10d

They understood how the immune system is kept in check

Mary E. Brunkow, Fred Ramsdell and Shimon Sakaguchi are awarded the Nobel Prize in Physiology or Medicine 2025 for their groundbreaking discoveries concerning peripheral immune tolerance
www.nobelprize.org/prizes/medic...

Nobel Prize in Physiology or Medicine 2025

The Nobel Prize in Physiology or Medicine 2025 was awarded to Mary E. Brunkow, Fred Ramsdell and Shimon Sakaguchi “for their discoveries concerning peripheral immune tolerance.”

www.nobelprize.org

Hena Jose @henajose.bsky.social · Aug 21

Technological advances typically punctuate accelerated discovery in biomedical science, and the past decade has been exemplary regarding breakthroughs in our genomic understanding of human biology in health and disease
x.com/NatureRevGen...

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Reposted by Hena Jose

Anita Leirfall @anitaleirfall.bsky.social · Aug 7

The Myth of the Designer Baby

A genomics firm saying they can help parents with “genetic optimization” of their embryos is tone-deaf Silicon Valley marketing trampling over legitimate science. Parents should be wary. www.scientificamerican.com/article/why-... (h/t @justincaouette.bsky.social)

No, You Can’t Design Your Baby—And Trying Would Be a Terrible Idea

A genomics firm saying they can help parents with “genetic optimization” of their embryos is tone-deaf Silicon Valley marketing trampling over legitimate science. Parents should be wary

www.scientificamerican.com

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Hena Jose @henajose.bsky.social · Jul 14

Biobank-scale genomic research projects from around the globe
www.the-innovation.org/article/doi/...

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Hena Jose @henajose.bsky.social · Jun 11

Among 27 NBSeq programs, only 74 (1.7%) genes included by over 80% of programs. Substantial variability in gene selection across programs exists, highlighting the need for a systematic approach to prioritize genes.
www.gimjournal.org/article/S109...

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Over 30 international studies are exploring newborn sequencing (NBSeq) to expand the range of genetic disorders included in newborn screening. Substantial variability in gene selection across programs...

www.gimjournal.org

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Reposted by Hena Jose

Daniel Hoffmann 🌻 @danielhoffmann1.bsky.social · May 16

When science fiction becomes science fact: in a triumph of science based personalized therapy a baby with a unique fatal #genetic disease was saved by a bespoke #CRISPR approach. Unthinkable 20 years ago. www.nature.com/articles/d41...

World’s first personalized CRISPR therapy given to baby with genetic disease

Treatment seems to have been effective, but it is not clear whether such bespoke therapies can be widely applied.

www.nature.com

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Hena Jose @henajose.bsky.social · May 7

An atlas of tissue-specific protein-protein associations helps to prioritise targets for drug discovery
www.ppiatlas.com?ref=blog.ope...

PPI Atlas

Web site created using create-react-app

www.ppiatlas.com

Reposted by Hena Jose

Nature @nature.com · Apr 22

Computer scientists and bioinformaticians address four key questions to help rookie coders to make the right choice

https://go.nature.com/42UuoT3

Which programming language should I use? A guide for early-career researchers

Computer scientists and bioinformaticians address four key questions to help rookie coders to make the right choice.

go.nature.com

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Hena Jose @henajose.bsky.social · Apr 21

Implicates 700 effector genes and highlight eight biological processes including the circadian clock, glial-cell-related processes and pathways with an established role in osteoarthritis (TGFβ, FGF, WNT, BMP and retinoic acid signalling, and extracellular matrix organization)

Nature @nature.com · Apr 14

Nature research paper: Translational genomics of osteoarthritis in 1,962,069 individuals

https://go.nature.com/4juvSsT

Translational genomics of osteoarthritis in 1,962,069 individuals - Nature

A genome-wide association study meta-analysis combined with multiomics data of osteoarthritis identifies 700 effector genes as well as biological processes with a convergent involvement of multiple effector genes; 10% of these genes express the target of approved drugs.

go.nature.com

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Reposted by Hena Jose

Science bytes @dnascience.bsky.social · Apr 16

Scientists have developed CIPDEL, a new GENE EDITING method using Cas12a’s unique DNA-cutting ability to enhance gene editing precision. New dawn to safer medical therapies, improved crops, and more efficient research tools. doi.org/10.1186/s130...

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Hena Jose @henajose.bsky.social · Apr 9

Cepheid and Oxford Nanopore collaboration to look into infectious disease first
nanoporetech.com/news/cepheid...

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Hena Jose @henajose.bsky.social · Apr 7

A great study where monogenic and polygenic studies converges

Nature Reviews Genetics @natrevgenet.nature.com · Apr 7

New online! The genetic basis of human height

The genetic basis of human height

Nature Reviews Genetics, Published online: 07 April 2025; doi:10.1038/s41576-025-00834-1Genetic factors that influence human height encompass rare monogenic variants as well as common and rare polygenic variants. In this Review, Bicknell et al. summarize our current understanding of the genetic underpinnings of human stature and link these genes to common developmental and cellular pathways that affect skeletal growth.

www.nature.com

Hena Jose @henajose.bsky.social · Apr 7

Amazing to learn how DNA match led to the true culprit

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Reposted by Hena Jose

Chemistry World @chemistryworld.com · Mar 24

Back in 1962, DNA circles were first spotted in cancer cells. Now, armed with modern molecular biology and genomics tools, researchers are realising that these circles might explain why some cancers are more lethal than others.
#ChemSky

The circles of DNA that cause cancer

Ring-shaped extrachromosomal DNA is implicated in many cancers. Rachel Brazil talks to the scientists trying to uncover their secrets

www.chemistryworld.com

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Reposted by Hena Jose

ᐯIᑕTOᖇ ᑎIᘔET, ᗰᗪ @nizet.bsky.social · Mar 26

Today for the first time in decades, a new oral antibiotic to treat urinary tract infections was approved by the FDA

Gepotidacin is a triazaacenaphthylene that inhibits bacterial DNA replication by targeting DNA gyrase and topoisomerase IV

Trade name? BLUJEPA® !!!

www.gsk.com/en-gb/media/...

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Hena Jose @henajose.bsky.social · Mar 24

For the first time, researchers have used the CRISPR gene editor to repair AAT gene in the human body.
www.science.org/content/arti...

Gene editing fixes DNA—and treats incurable lung and liver disease

A promising clinical trial marks another milestone for the CRISPR gene editor

www.science.org

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Hena Jose @henajose.bsky.social · Mar 18

Lungfish has 30 times as much DNA as humans

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Reposted by Hena Jose

Larry Hunter @proflhunter.bsky.social · Mar 18

Computational biology XKCD!

Randall Munroe @xkcd.com · Mar 17

Lungfish xkcd.com/3064

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Hena Jose @henajose.bsky.social · Mar 5

One of those truly multiomic studies. Get to see sQTL, eQTL, pQTL, mQTL connect genetic etiology across molecular traits and health outcomes

Mike Inouye @mikeinouye.bsky.social · Mar 4

📣 New from the lab: The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes www.nature.com/articles/s41...

Check out the INTERVAL RNAseq portal www.intervalrna.org.uk

Led by @alextokolyi.bsky.social & Elodie Persyn!

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Hena Jose @henajose.bsky.social · Mar 3

Congrats. As someone all ready to get a MK1D for AMR work, may i ask how is your exp working with MK1D for microbe study

Reposted by Hena Jose

Randall Munroe @xkcd.com · Feb 26

RNA xkcd.com/3056

160 2.6K 18K

Reposted by Hena Jose

Nature Portfolio @natureportfolio.nature.com · Feb 23

Synthetic biologists discuss with Nature why it’s so hard to write a genome. “We underestimated how complex biology is.” 🧪 🧬

Why is it so hard to rewrite a genome?

Synthetic biologists have the know-how and ambition to retool whole genomes. But the hidden complexity of biological systems continues to surprise them.

go.nature.com

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Hena Jose @henajose.bsky.social · Feb 21

SBX technology utilizes a proprietary biochemical conversion process to expand and encode the sequence of a DNA template into an Xpandomer molecule.

Shawn Baker @sandiegomics.bsky.social · Feb 20

Roche’s Fantasy Sequencer Slowly Turning Into a Fantastic Reality
#sequencing #nanopore #genomics

sandiegomics.com/roches-fanta...

Roche’s Fantasy Sequencer Slowly Turning Into a Fantastic Reality

After 10+ years of mostly silence, Roche is finally starting to lift the curtain on their nanopore sequencer. It’s based on a combination of Genia’s nanopore platform (acquired in 2014) and Stratos…

sandiegomics.com

Reposted by Hena Jose

Lara Muffley @muffley.bsky.social · Feb 15

#RareDiseaseDay (coming up on Friday, February 28, 2025) is a day dedicated to raise awareness of rare diseases and the people they affect. Tune in to this amazing podcast series that delves into the science behind mapping variants in diseases and rare diseases. www.varianteffect.org/podcast

The image showcases three separate podcast advertisement banners placed vertically. Each banner contains artwork on the left and text on the right. The top banner features a digital illustration of a double helix with scientific imagery and human figures on a teal background. The text reads "Variant Effect What?" for a podcast released on May 16. The middle banner, on a red background, depicts a circular illustration with intricate biological designs and a central glowing orb. The text states "Melanoma And Variant Effects: beyond sunscreen," dated June 6. The bottom banner, set on a teal background, presents another double helix with molecular designs. The text says "Your genes on drugs: context matters!" released on September 20.

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Hena Jose @henajose.bsky.social · Feb 13

Simultaneous single-cell CRISPR, RNA, and ATAC-seq enables multiomic CRISPR screens to identify gene regulatory relationships
www.biorxiv.org/content/10.1...