Autosomal News and Research

RSS

Roundworm study uncovers cellular effects of kidney disease mutation

A microscopic worm that has no kidneys is helping Rutgers scientists understand a genetic change suspected of causing a serious inherited kidney disease.

21 Sep 2026

New human genome benchmark captures both parental copies with near-perfect accuracy

Researchers created T2T-HG002, a near-perfect diploid human genome benchmark that is free of detectable errors across 99.4% of the genome and captures both maternal and paternal haplotypes. The benchmark expands coverage into previously excluded genomic regions and provides a new framework for evaluating sequencing reads, assemblies, phased variants, and personalized genome inference.

10 Aug 2026

Blood biomarker may predict Alzheimer's progression differently in men

A blood test does not lie, exactly. It reports a number. The question raised by a new mini-review in Brain Medicine, which gathers and weighs a decade of scattered findings, is whether clinicians have been reading the same number in two different ways without realizing it.

30 Jun 2026

Zebrafish model unlocks new insights into hereditary brain disease

CADASIL, an inherited disease caused by mutations in the NOTCH3 gene, damages the brain’s small blood vessels, leading to strokes, cognitive decline, and early dementia.

24 Jun 2026

Novel gene therapy appears to be safe for Friedreich ataxia cardiomyopathy

A new gene therapy appears to be safe in patients diagnosed with Friedreich ataxia cardiomyopathy, a progressive and fatal inherited cardiac disease, according to a phase 1 clinical trial led by Weill Cornell Medicine researchers.

17 Jun 2026

Lab-grown cell models reveal urate triggers vital renal water channels

Mayo Clinic researchers have identified a previously unrecognized way the kidneys regulate water balance - an advance that could lead to improved treatments for polycystic kidney disease (PKD) and other disorders. The study, led by Fouad Chebib, M.D., a nephrologist at Mayo Clinic, is published in the Journal of Clinical Investigation.

16 Jun 2026

Researchers uncover immune mechanisms behind polycystic kidney disease progression

A new review has illuminated a critical but often overlooked dimension of autosomal dominant polycystic kidney disease (ADPKD)—its immune microenvironment.

24 May 2026

New genetic roadmap offers targeted treatment for rare inflammatory disorder

Not all broken genes fail in the same way: some simply stop working, while others interfere with what still works.

22 May 2026

Scientists develop advanced lab-grown kidney organoids for disease research

A team led by USC Stem Cell scientist Zhongwei Li, PhD, has produced some of the most complex and mature lab-grown kidney models to date.

12 May 2026

Obesity may leave immune cells stuck in inflammatory mode after weight loss

A new EMBO Reports study suggests that obesity can leave a lasting epigenetic imprint on CD4 T cells, delaying the restoration of adaptive immune balance after weight loss. Using mouse models and human cohorts, researchers linked this immune “memory” to DNA methylation changes, saturated fatty acids, autophagy, and immune senescence.

28 Apr 2026

New gene therapy improves hearing in patients with rare genetic deafness

A new international study co-led by investigators from Mass General Brigham and the Eye & ENT Hospital of Fudan University shows that a gene therapy for a rare form of genetic deafness successfully restored hearing in most participants, with results lasting up to 2.5 years.

23 Apr 2026

High-resolution study maps molecular differences across six human cortical regions

A new analysis of individual brain cells across several human brain regions reveals subtle but widespread differences in gene activity between male and female brains. This may help explain why some psychiatric and neurological disorders appear to affect the biological sexes differently, researchers report.

17 Apr 2026

Mount Sinai researchers identify a highly prevalent recessive neurodevelopmental disorder

Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD) that appears to be the most prevalent ever discovered.

30 Mar 2026

Combining gene and biomarker screening for newborn health

For more than six decades, biomarker-based newborn screening has played a pivotal role in reducing infant mortality and long-term disability by enabling early detection of metabolic and endocrine disorders.

23 Feb 2026

Review: Pathogenesis, diagnosis, and management of harlequin ichthyosis

Harlequin ichthyosis (HI) is a rare, severe genetic skin disorder caused by ABCA12 mutations, leading to defective lipid transport and loss of skin barrier function.

17 Feb 2026

First topical CRISPR gene therapy corrects disease-causing mutations in human skin

Gene-editing tools like CRISPR have unlocked new treatments for previously uncurable diseases. Now, researchers at the University of British Columbia are extending those possibilities to the skin for the first time.

27 Jan 2026

Unraveling liver injury mechanisms in familial hypobetalipoproteinemia

Familial Hypobetalipoproteinemia (FHBL), caused by variants in the apolipoprotein B (APOB) gene, is a rare autosomal co-dominant monogenic disorder characterized by lifelong low plasma levels of total cholesterol, low-density lipoprotein cholesterol (LDL-C), and APOB.

24 Jan 2026

Whole genome sequencing reveals how much human heritability we can finally explain

Whole genome sequencing in nearly 500,000 UK Biobank participants shows that observed rare and common variants now explain about 88% of family based heritability for many human traits. By partitioning heritability into rare versus common and coding versus non-coding components, the study narrows where missing heritability still hides and highlights traits that remain only partly understood.

13 Nov 2025

Harnessing “DNA surgery” to develop therapeutic medicines for genetic liver and heart diseases

Genome editing is increasingly recognized as a leading frontier in biomedical research and an essential driver of healthcare innovation.

30 Sep 2025

Breakthrough in building functional synthetic kidneys using assembloids

A USC Stem Cell-led research team has achieved a major step forward in the effort to build mouse and human synthetic kidneys.

17 Sep 2025