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Cross-source consensus on what matters today in genetics and genomics — drawn from 16 trusted public sources including NHGRI, the CDC, NHS England, Genomics England, the PHG Foundation, the Wellcome Sanger Institute, and peer-reviewed open-access journals.

Last updated: 15 Jul 2026 09:08 UTC · browse archive

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Preprint Researchers · Genetic Counsellors · Educators

Preprint identifies distal regulatory variant on GBA1 haplotype as potential driver of Parkinson's neuroinflammation

A bioRxiv preprint integrating whole-genome sequencing, transcriptomic, and epigenomic data proposes that an overlooked non-coding regulatory signal may help explain why GBA1 coding variants substantially raise Parkinson's disease risk.

2026-07-14 · 1 source · bioRxiv (Cold Spring Harbor Laboratory)

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Researchers · Genetic Counsellors · Educators

Bayesian model refines age-dependent risk estimates for C9orf72 repeat expansion carriers

A new theoretical framework published in PLOS Genetics uses age-specific penetrance data to improve on the standard 50% carrier-risk figure given to relatives of C9orf72 mutation carriers.

2026-07-14 · 1 source · PLOS Genetics

Researchers · Genetic Counsellors · Educators

ARPA-H commits $160 million to bespoke gene-editing treatments for rare diseases

Seven research laboratories will share ARPA-H funding aimed at accelerating individually tailored gene-editing therapies for patients with rare genetic conditions.

2026-07-10 · 1 source · Stat News

Researchers · Genetic Counsellors · Educators

Roche discontinues Huntington's disease gene-silencing programmes

Roche has ended its gene-silencing efforts targeting Huntington's disease, a setback for a field that has seen several high-profile programme failures in recent years.

2026-07-11 · 1 source · Stat News

Oncologists · Researchers · Patients & Families

Daraxonrasib draws attention as potential advance in KRAS-driven pancreatic cancer

Specialists responding to early data on daraxonrasib, a KRAS inhibitor, describe it as a notable development in a disease where treatment options have changed little for decades.

2026-07-13 · 1 source · Stat News

Researchers · Oncologists · Genetic Counsellors

Blood pressure drug telmisartan may enhance PARP inhibitor olaparib beyond BRCA tumours

Preclinical research finds that combining telmisartan with olaparib boosts anticancer and immune effects, potentially broadening the PARP inhibitor's utility beyond BRCA1/2-related cancers, with human trials already under way.

2026-07-12 · 1 source · ScienceDaily

Preprint · not peer-reviewed Researchers · Genetic Counsellors · Oncologists

Zebrafish model enables functional classification of COL3A1 variants of uncertain significance

A preprint from Cold Spring Harbor Laboratory describes a zebrafish system that uses functional surrogacy to model vascular Ehlers-Danlos syndrome and reclassify COL3A1 variants where pathogenicity is unclear.

2026-07-08 · 1 source · bioRxiv (Cold Spring Harbor Laboratory)

Preprint · not peer-reviewed Researchers · Genetic Counsellors · Educators

Long-read sequencing uncovers two independent pathogenic variants co-segregating in a consanguineous Pakistani family

A preprint reports that dizygotic twins in a consanguineous family carry both a novel EPS8 variant linked to hearing loss and an HPDL variant associated with neurodevelopmental disorder, illustrating how multilocus pathogenic variation can produce complex overlapping phenotypes.

2026-07-15 · 1 source · bioRxiv (Cold Spring Harbor Laboratory)

Researchers · Educators · Students

Multi-region brain transcriptomics reveals distinct molecular mechanisms in C9orf72 ALS

Integrative analysis across multiple CNS regions distinguishes molecular signatures of C9orf72-expansion ALS from non-C9orf72 cases, published in PLOS Genetics.

2026-07-09 · 1 source · PLOS Genetics

Researchers · GPs · Genetic Counsellors

Serotonin pathway and genetic variant linked to faster mitral valve disease progression

Columbia University researchers report that a specific genetic variant may accelerate heart valve damage in people with degenerative mitral regurgitation who also take SSRI antidepressants.

2026-07-12 · 1 source · ScienceDaily