was banging my head against a bug (VEP classifying my in-exon variants as 'downstream') that Claude Sonnet 4.5 fixed in about 5 minutes. I can understand the scepticism on LLMs being jammed into every corner of life, but there's merit in these tools
February 3, 2026 at 1:46 AM
was banging my head against a bug (VEP classifying my in-exon variants as 'downstream') that Claude Sonnet 4.5 fixed in about 5 minutes. I can understand the scepticism on LLMs being jammed into every corner of life, but there's merit in these tools
Single-dose base editing corrects PKD1 mutation and extends survival in ADPKD preclinical model - goo.gl/alerts/HLd2UL #GoogleAlerts
MSN
goo.gl
January 31, 2026 at 8:59 AM
Single-dose base editing corrects PKD1 mutation and extends survival in ADPKD preclinical model - goo.gl/alerts/HLd2UL #GoogleAlerts
Gene-Editing Therapy Corrects PKD1 Mutation and Extends Survival in Preclinical Models of ADPKD - goo.gl/alerts/9EL38i #GoogleAlerts
Gene-Editing Therapy Corrects PKD1 Mutation and Extends Survival in Preclinical Models of ADPKD - GeneOnline News
Researchers have developed a gene-editing therapy that […]
goo.gl
January 30, 2026 at 2:26 PM
Gene-Editing Therapy Corrects PKD1 Mutation and Extends Survival in Preclinical Models of ADPKD - goo.gl/alerts/9EL38i #GoogleAlerts
Gene-Editing Therapy Corrects PKD1 Mutation and Extends Survival in Preclinical Models of ADPKD - goo.gl/alerts/j7BZvW #GoogleAlerts
Gene-Editing Therapy Corrects PKD1 Mutation and Extends Survival in Preclinical Models of ADPKD - GeneOnline News
Researchers have developed a gene-editing therapy that […]
goo.gl
January 30, 2026 at 2:21 PM
Gene-Editing Therapy Corrects PKD1 Mutation and Extends Survival in Preclinical Models of ADPKD - goo.gl/alerts/j7BZvW #GoogleAlerts
Gene-Editing Therapy Corrects PKD1 Mutation and Extends Survival in Preclinical Models of ADPKD - goo.gl/alerts/j7BZvW #GoogleAlerts
Gene-Editing Therapy Corrects PKD1 Mutation and Extends Survival in Preclinical Models of ADPKD - GeneOnline News
Researchers have developed a gene-editing therapy that […]
goo.gl
January 30, 2026 at 2:20 PM
Gene-Editing Therapy Corrects PKD1 Mutation and Extends Survival in Preclinical Models of ADPKD - goo.gl/alerts/j7BZvW #GoogleAlerts
Gene-Editing Therapy Corrects PKD1 Mutation and Extends Survival in Preclinical Models of ADPKD - goo.gl/alerts/dFrsNA #GoogleAlerts
Gene-Editing Therapy Corrects PKD1 Mutation and Extends Survival in Preclinical Models of ADPKD - GeneOnline News
Researchers have developed a gene-editing therapy that […]
goo.gl
January 30, 2026 at 12:12 AM
Gene-Editing Therapy Corrects PKD1 Mutation and Extends Survival in Preclinical Models of ADPKD - goo.gl/alerts/dFrsNA #GoogleAlerts
Signal or noise? > Single-dose base editing corrects PKD1 mutation and extends
survival in ADPKD preclinical models - Medical Xpress >> Comment below! #strategy #competitiveintelligence #marketing #biotech #pharma #pharmaceutical #competitivemarketing #healthcare
survival in ADPKD preclinical models - Medical Xpress >> Comment below! #strategy #competitiveintelligence #marketing #biotech #pharma #pharmaceutical #competitivemarketing #healthcare
Single-dose base editing corrects PKD1 mutation and extends
survival in ADPKD preclinical models - Medical Xpress
Single-dose base editing corrects PKD1 mutation and extends survival in ADPKD preclinical models Medical Xpress
dlvr.it
January 29, 2026 at 7:59 PM
Signal or noise? > Single-dose base editing corrects PKD1 mutation and extends
survival in ADPKD preclinical models - Medical Xpress >> Comment below! #strategy #competitiveintelligence #marketing #biotech #pharma #pharmaceutical #competitivemarketing #healthcare
survival in ADPKD preclinical models - Medical Xpress >> Comment below! #strategy #competitiveintelligence #marketing #biotech #pharma #pharmaceutical #competitivemarketing #healthcare
Single-dose base editing targeting the PKD1 gene corrected mutations and extended survival in preclinical models of autosomal dominant polycystic kidney disease, with improved kidney, heart, and liver health. doi.org/hbmvcn
Single-dose base editing corrects PKD1 mutation and extends survival in ADPKD preclinical models
Mayo Clinic researchers have developed a promising gene-editing therapy that directly corrects a genetic mutation responsible for autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney disorder.
medicalxpress.com
January 29, 2026 at 6:48 PM
Single-dose base editing targeting the PKD1 gene corrected mutations and extended survival in preclinical models of autosomal dominant polycystic kidney disease, with improved kidney, heart, and liver health. doi.org/hbmvcn
Could PKD1 5′UTR variants be the hidden cause in undiagnosed #ADPKD? 🧬
📢 New study shows rare regulatory variants reduce polycystin-1 expression, opening diagnostic & therapeutic avenues. #Genomics #RareDisease
www.nature.com/articles/s41...
📢 New study shows rare regulatory variants reduce polycystin-1 expression, opening diagnostic & therapeutic avenues. #Genomics #RareDisease
www.nature.com/articles/s41...
PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development - European Journal of Human Genetics
European Journal of Human Genetics - PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development
www.nature.com
January 27, 2026 at 10:25 AM
Could PKD1 5′UTR variants be the hidden cause in undiagnosed #ADPKD? 🧬
📢 New study shows rare regulatory variants reduce polycystin-1 expression, opening diagnostic & therapeutic avenues. #Genomics #RareDisease
www.nature.com/articles/s41...
📢 New study shows rare regulatory variants reduce polycystin-1 expression, opening diagnostic & therapeutic avenues. #Genomics #RareDisease
www.nature.com/articles/s41...
⭐NAR Breakthrough ⭐
New study identifies a 6-nt miR-17 site in the #PKD1 3′UTR that limits PKD1 expression. Targeting this site boosts PKD1 protein and reduces cyst burden in #ADPKD models—highlighting a promising oligo-based strategy @vishal-d-patel.bsky.social
🧬Read more: doi.org/10.1093/nar/...
New study identifies a 6-nt miR-17 site in the #PKD1 3′UTR that limits PKD1 expression. Targeting this site boosts PKD1 protein and reduces cyst burden in #ADPKD models—highlighting a promising oligo-based strategy @vishal-d-patel.bsky.social
🧬Read more: doi.org/10.1093/nar/...
January 21, 2026 at 2:14 PM
⭐NAR Breakthrough ⭐
New study identifies a 6-nt miR-17 site in the #PKD1 3′UTR that limits PKD1 expression. Targeting this site boosts PKD1 protein and reduces cyst burden in #ADPKD models—highlighting a promising oligo-based strategy @vishal-d-patel.bsky.social
🧬Read more: doi.org/10.1093/nar/...
New study identifies a 6-nt miR-17 site in the #PKD1 3′UTR that limits PKD1 expression. Targeting this site boosts PKD1 protein and reduces cyst burden in #ADPKD models—highlighting a promising oligo-based strategy @vishal-d-patel.bsky.social
🧬Read more: doi.org/10.1093/nar/...
Autosomal dominant polycystic kidney disease (ADPKD) is linked to mutations in PKD1 and PKD2 genes, affecting cation channel complexes in kidney cell cilia. This #ASNJASN study explored ways to increase these complexes in cilia to prevent kidney cyst formation: kidney.pub/JASN0942
December 24, 2025 at 6:00 PM
Autosomal dominant polycystic kidney disease (ADPKD) is linked to mutations in PKD1 and PKD2 genes, affecting cation channel complexes in kidney cell cilia. This #ASNJASN study explored ways to increase these complexes in cilia to prevent kidney cyst formation: kidney.pub/JASN0942
Congratulations to our Sectional Pitch Master Dr. Whitney Besse for winning 1st place at the 2025 Yale Life Science PitchFest live pitch session for her project PKD1 UORF-Blocking ASOs as Therapy for ADPKD!!
So impressed, so proud!! @yaleventures.bsky.social
So impressed, so proud!! @yaleventures.bsky.social
December 9, 2025 at 11:34 PM
Congratulations to our Sectional Pitch Master Dr. Whitney Besse for winning 1st place at the 2025 Yale Life Science PitchFest live pitch session for her project PKD1 UORF-Blocking ASOs as Therapy for ADPKD!!
So impressed, so proud!! @yaleventures.bsky.social
So impressed, so proud!! @yaleventures.bsky.social
ADPKD affects nearly 10M people & is often driven by PKD1 mutations that lower PC1 protein levels. Arnatar is developing ART5 to boost PKD1 expression & restore PC1 using its ACT UP1 platform. Early data show higher PC1 & reduced cyst burden.
Learn more: arnatar.com/pipeline
Learn more: arnatar.com/pipeline
December 4, 2025 at 4:11 PM
ADPKD affects nearly 10M people & is often driven by PKD1 mutations that lower PC1 protein levels. Arnatar is developing ART5 to boost PKD1 expression & restore PC1 using its ACT UP1 platform. Early data show higher PC1 & reduced cyst burden.
Learn more: arnatar.com/pipeline
Learn more: arnatar.com/pipeline
The November issue of CJASN is now available online! Topics covered this month include: - ADPKD Progression by PKD1 Genotype - Impact of Virtual PD Training During Fellowship - and more Check out the issue here: kidney.pub/CJASN-1125 #ASNCJASN Cover by Ayah et al.
November 10, 2025 at 10:00 PM
The November issue of CJASN is now available online! Topics covered this month include: - ADPKD Progression by PKD1 Genotype - Impact of Virtual PD Training During Fellowship - and more Check out the issue here: kidney.pub/CJASN-1125 #ASNCJASN Cover by Ayah et al.
🎯 Takeaway: a minimal, targetable 6-nt motif gates PKD1 dose and disease progression.
This mutation-agnostic, precision strategy offers a blueprint for oligonucleotide therapy in haploinsufficient disorders beyond ADPKD
#miRNA #OligonucleotideTherapy #RNAtherapeutics #Nephrology
This mutation-agnostic, precision strategy offers a blueprint for oligonucleotide therapy in haploinsufficient disorders beyond ADPKD
#miRNA #OligonucleotideTherapy #RNAtherapeutics #Nephrology
October 24, 2025 at 3:50 AM
🎯 Takeaway: a minimal, targetable 6-nt motif gates PKD1 dose and disease progression.
This mutation-agnostic, precision strategy offers a blueprint for oligonucleotide therapy in haploinsufficient disorders beyond ADPKD
#miRNA #OligonucleotideTherapy #RNAtherapeutics #Nephrology
This mutation-agnostic, precision strategy offers a blueprint for oligonucleotide therapy in haploinsufficient disorders beyond ADPKD
#miRNA #OligonucleotideTherapy #RNAtherapeutics #Nephrology
💊 To translate this genetically defined insight, we engineered a steric-blocking antisense oligonucleotide that masks the same 6-nt motif—no editing required.
This oligo:
✔️ Stabilizes PKD1 transcripts
✔️ Restores PC1 in mouse & patient ADPKD cells
✔️ Reduces cysts in 3D culture
This oligo:
✔️ Stabilizes PKD1 transcripts
✔️ Restores PC1 in mouse & patient ADPKD cells
✔️ Reduces cysts in 3D culture
October 24, 2025 at 3:50 AM
💊 To translate this genetically defined insight, we engineered a steric-blocking antisense oligonucleotide that masks the same 6-nt motif—no editing required.
This oligo:
✔️ Stabilizes PKD1 transcripts
✔️ Restores PC1 in mouse & patient ADPKD cells
✔️ Reduces cysts in 3D culture
This oligo:
✔️ Stabilizes PKD1 transcripts
✔️ Restores PC1 in mouse & patient ADPKD cells
✔️ Reduces cysts in 3D culture
🔬 Using CRISPR, we precisely disrupted this 6-nt miR-17 seed match in the PKD1 3′UTR.
Substituting just 6 bases:
⬆️ Stabilized PKD1 mRNA
⬆️ Increased polycystin-1 (PC1) protein
⬇️ Reduced cyst burden in vivo.
A striking example of how single-motif editing can reprogram disease.
Substituting just 6 bases:
⬆️ Stabilized PKD1 mRNA
⬆️ Increased polycystin-1 (PC1) protein
⬇️ Reduced cyst burden in vivo.
A striking example of how single-motif editing can reprogram disease.
October 24, 2025 at 3:50 AM
🔬 Using CRISPR, we precisely disrupted this 6-nt miR-17 seed match in the PKD1 3′UTR.
Substituting just 6 bases:
⬆️ Stabilized PKD1 mRNA
⬆️ Increased polycystin-1 (PC1) protein
⬇️ Reduced cyst burden in vivo.
A striking example of how single-motif editing can reprogram disease.
Substituting just 6 bases:
⬆️ Stabilized PKD1 mRNA
⬆️ Increased polycystin-1 (PC1) protein
⬇️ Reduced cyst burden in vivo.
A striking example of how single-motif editing can reprogram disease.
🧬 In #ADPKD, reduced PKD1 drives cyst growth and kidney failure.
We previously discovered a 55bp cis-repressive element in its 3'UTR.
We now identify the six critical bases—the miR-17 motif—whose disruption or masking restores PKD1 and slows disease
We previously discovered a 55bp cis-repressive element in its 3'UTR.
We now identify the six critical bases—the miR-17 motif—whose disruption or masking restores PKD1 and slows disease
Disruption of a six-nucleotide miRNA motif improves PKD1 dosage and ameliorates polycystic kidney disease https://www.biorxiv.org/content/10.1101/2025.10.22.683929v1
October 24, 2025 at 3:50 AM
🧬 In #ADPKD, reduced PKD1 drives cyst growth and kidney failure.
We previously discovered a 55bp cis-repressive element in its 3'UTR.
We now identify the six critical bases—the miR-17 motif—whose disruption or masking restores PKD1 and slows disease
We previously discovered a 55bp cis-repressive element in its 3'UTR.
We now identify the six critical bases—the miR-17 motif—whose disruption or masking restores PKD1 and slows disease
Disruption of a six-nucleotide miRNA motif improves PKD1 dosage and ameliorates polycystic kidney disease https://www.biorxiv.org/content/10.1101/2025.10.22.683929v1
October 23, 2025 at 8:33 PM
Disruption of a six-nucleotide miRNA motif improves PKD1 dosage and ameliorates polycystic kidney disease https://www.biorxiv.org/content/10.1101/2025.10.22.683929v1
Disruption of a six-nucleotide miRNA motif improves PKD1 dosage and ameliorates polycystic kidney disease https://www.biorxiv.org/content/10.1101/2025.10.22.683929v1
October 23, 2025 at 8:33 PM
Disruption of a six-nucleotide miRNA motif improves PKD1 dosage and ameliorates polycystic kidney disease https://www.biorxiv.org/content/10.1101/2025.10.22.683929v1
Researchers in Australia and the UK have found that targeted changes to upstream open reading frames (uORFs) in the genetic region just before the PKD1 gene can also increase or decrease polycystin levels.
October 16, 2025 at 2:39 PM
Researchers in Australia and the UK have found that targeted changes to upstream open reading frames (uORFs) in the genetic region just before the PKD1 gene can also increase or decrease polycystin levels.
Polycystins are proteins essential to healthy kidney function. In patients with ADPKD, mutations of the PKD1 or PKD2 gene reduce polycystin production by half, ultimately leading to cyst formation.
October 16, 2025 at 2:39 PM
Polycystins are proteins essential to healthy kidney function. In patients with ADPKD, mutations of the PKD1 or PKD2 gene reduce polycystin production by half, ultimately leading to cyst formation.
PKD1-tau disulfide linkage promotes tau phosphorylation and tau accumulation in a tauopathy mouse model #NeuroDegeneration 🧪🧠
https://www.researchsquare.com/article/rs-7655539/latest
https://www.researchsquare.com/article/rs-7655539/latest
October 14, 2025 at 7:02 AM
PKD1-tau disulfide linkage promotes tau phosphorylation and tau accumulation in a tauopathy mouse model #NeuroDegeneration 🧪🧠
https://www.researchsquare.com/article/rs-7655539/latest
https://www.researchsquare.com/article/rs-7655539/latest
This #ASNCJASN study demonstrates that the domain locations of non-truncating variants in PKD1 should be explored as prognostic markers of early stage ADPKD progression. kidney.pub/CJASN0801
October 9, 2025 at 4:00 PM
This #ASNCJASN study demonstrates that the domain locations of non-truncating variants in PKD1 should be explored as prognostic markers of early stage ADPKD progression. kidney.pub/CJASN0801
VX-407 is designed to target the source of ADPKD in patients with changes in the PKD1 gene. The way this investigational study drug works in the body is different from other treatments available for ADPKD.
September 29, 2025 at 6:00 PM
VX-407 is designed to target the source of ADPKD in patients with changes in the PKD1 gene. The way this investigational study drug works in the body is different from other treatments available for ADPKD.