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BCM Department of Molecular and Human Genetics

@bcmgenetics.bsky.social

The Department of Molecular and Human Genetics at Baylor College of Medicine is transforming medicine, research, and education in genetics and genomics.

164 Posts128 Follower40 Folgt
From the Labs at Baylor College of Medicine@bcmfromthelabs.bsky.social · 2w ago

Interested in a Case Report and Review of #Mitochondrial–Immune Crosstalk? F. Scaglia, D. Brooks et al published a paper in JIMD Reports - @wileyonlinelibrary.bsky.social @bcmhouston.bsky.social @bcmgenetics.bsky.social onlinelibrary.wiley.com/doi/10.1002/...

<fc>JAK</fc> Inhibition in <fc><fi>PNPT1</fi></fc>‐Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial–Immune Crosstalk

Biallelic pathogenic variants in PNPT1 cause combined oxidative phosphorylation deficiency 13 (COXPD13) (MIM #614932), linking mitochondrial dysfunction to type I interferon (IFN) activation through ...

onlinelibrary.wiley.com

From the Labs at Baylor College of Medicine@bcmfromthelabs.bsky.social · 2w ago

Dr. H Zoghbi, H. Lee et al: certain areas of the #Brain are more vulnerable to disease if a specific protein partnership is disrupted #capicua #ataxia #SCA1 @genesdev.bsky.social @bcmhouston.bsky.social #TexasChildrens @bcmgenetics.bsky.social @bcmneurosci.bsky.social www.bcm.edu/news/researc...

Researchers explain differences in brain tissue vulnerability in neurological disease

Many neurological diseases damage specific parts of the brain, even though the harmful protein involved is present throughout the brain. Researchers at...

bcm.edu

From the Labs at Baylor College of Medicine@bcmfromthelabs.bsky.social · 2w ago

H. Bellen, S. Lu, J. Shulman, Z. Liu et al explain in @jci.org a new way #epilepsy can happen. @bcmhouston.bsky.social #TexasChildrens @bcmgenetics.bsky.social #diagnosis blogs.bcm.edu/2026/07/23/r...

Researchers uncovered a novel pathway that causes epilepsy

The findings also provide a new approach to improve the diagnosis of epilepsy, for which a genetic cause cannot be found in about 50 % of individuals with the condition.

blogs.bcm.edu

BCM Department of Molecular and Human Genetics@bcmgenetics.bsky.social · 3w ago

Congratulations to Dr. Richard Gibbs & @bcmhgsc.bsky.social on receiving new funding from the NHGRI to serve as the sequencing center for the Population Genomic Screening Network (PGSN), an NIH initiative piloting community-level genomic screening in primary care. www.bcm.edu/news/baylor-...

Baylor receives NIH grant for Population Genomic Screening Network

Baylor College of Medicine’s Human Genome Sequencing Center will serve as the clinical sequencing center for the new Population Genomic Screening Network...

bcm.edu

From the Labs at Baylor College of Medicine@bcmfromthelabs.bsky.social · 3w ago

#Epilepsy can be caused by defects in a single gene, but also by specific combinations of two and potentially more defective genes. H. Bellen, S. Lu, J. Shulman, Z. Liu et al explain in @jci.org @bcmhouston.bsky.social @bcmgenetics.bsky.social #TexasChildrens www.bcm.edu/news/researc...

Researchers uncovered a novel pathway that causes epilepsy

Researchers have uncovered a novel biological pathway that can lead to seizures when disrupted. The findings also provide a new approach to improve...

bcm.edu

From the Labs at Baylor College of Medicine@bcmfromthelabs.bsky.social · 4w ago

When #bacteria face #antibiotics it's not ‘every man for himself.’ C. Herman, A. Wen et al show their findings in @science.org @bcmhouston.bsky.social @bcmgenetics.bsky.social @bcm-mstp.bsky.social #Teamwork blogs.bcm.edu/2026/07/07/f...

Teamwork: An unexpected strategy bacteria use to survive antibiotics

The findings help explain why some bacteria are hard to eliminate and suggest potential future approaches to improve antibiotic effectiveness.

blogs.bcm.edu

From the Labs at Baylor College of Medicine@bcmfromthelabs.bsky.social · last mo.

Researchers uncovered a way #bacteria survive #antibiotics: #Teamwork. C. Herman, A. Wen et al show their findings in @science.org @bcmhouston.bsky.social @bcmgenetics.bsky.social @bcm-mstp.bsky.social #TheScientist www.the-scientist.com/bacteria-sha...

Bacteria Share Proteins to Fight Off Antibiotics | The Scientist

Bacteria can pass proteins between themselves, which induces a dormant state that helps a small group of them survive antibiotics, revealing a path to better antibiotics.

the-scientist.com

BCM Department of Molecular and Human Genetics@bcmgenetics.bsky.social · last mo.

In the June issue of Brain Communications, researchers from @bcmgenetics.bsky.social, Columbia Medical Center, and global collaborators report that pyrimidine nucleos(t)ide therapy improves survival and functional outcomes in TK2d: pubmed.ncbi.nlm.nih.gov/42318512/

Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency - PubMed

Thymidine kinase 2 deficiency (TK2d) (MIM 609560) is an ultra-rare, autosomal recessive mitochondrial myopathy caused by <i>TK2</i> variants, leading to mitochondrial DNA depletion and/or multiple del...

pubmed.ncbi.nlm.nih.gov

BCM Department of Molecular and Human Genetics@bcmgenetics.bsky.social · 2mo ago

Researchers at @bcmgenetics.bsky.social, with the Undiagnosed Diseases Network and international collaborators, identified a new genetic disorder tied to TMEM63B variants causing severe early-onset lung disease. Read more about the discovery published in AJHG: www.bcm.edu/news/novel-d...

Novel disorder causing severe respiratory dysfunction linked to loss-of-function TMEM63B variant

A new report in the American Journal of Human Genetics describes a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, which...

bcm.edu