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Scientists uncover rare gene variants that help people live past 100

Researchers studying over 2,000 Ashkenazi Jewish centenarians uncovered two rare IGF-1 gene variants linked to exceptional longevity. These variants reduce IGF-1 receptor activity through either diminished receptor binding or lower circulating IGF-1 levels.

26 Mar 2025

Firefighting chemicals leave brain cancer-linked mutations, study shows

Firefighters show higher rates of glioma-linked SBS42 mutational signatures associated with haloalkane exposure, suggesting occupational risk. The study highlights a clear link between firefighting, chemical exposure, and brain cancer mutations.

13 Mar 2025

High-resolution DNA sequencing data for 37,000 children and parents released

The first resource containing high-resolution DNA sequencing data for over 37,000 children and parents collected over multiple decades from across the UK is now available to researchers worldwide.

4 Mar 2025

Global partnerships transforming diagnosis and treatment for rare genetic diseases

Global partnerships that embed scientific research into clinical care are revolutionising the diagnosis and treatments for children with rare genetic diseases, according to a new report.

27 Feb 2025

Scientists uncover hidden genetic causes of congenital heart disease

Scientists at the Icahn School of Medicine at Mount Sinai and collaborators have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect.

20 Feb 2025

Blood immune cells found to impact cancer survival

The immune systems of cancer patients are highly disrupted, with those who have a higher number of immune cells in their blood having a better survival rate, finds a new study that uses a pioneering technique developed by researchers at UCL and the Francis Crick Institute.

20 Feb 2025

First insights into familial ALS in Egypt reveal genetic variations and disease progression

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the progressive degeneration of motor neurons, leading to muscle weakness and eventually death.

18 Feb 2025

ImmuneLENS method provides new insights into cancer prognosis

18 Feb 2025

Alzheimer’s escape: How one man defied his genetic fate for nearly two decades

A groundbreaking study reveals how a rare combination of genetics, proteomics, and environmental factors may hold the key to delaying or preventing Alzheimer's, challenging long-held assumptions about the disease.

11 Feb 2025

Neoantigen DNA vaccines improve survival and immunity in triple-negative breast cancer patients

A new phase 1 trial demonstrates the safety and effectiveness of personalized neoantigen DNA vaccines, showing promising immune responses and improved recurrence-free survival in high-risk triple-negative breast cancer patients.

17 Nov 2024

Mapping tumor microenvironments: Uncovering spatial subclones for improved cancer treatment

Researchers investigate the spatial organization of cancer cells and the tumor microenvironment.

31 Oct 2024

Deletion of long non-coding RNA linked to rare neurodevelopmental disorder

When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an overproduction of protein from the chromodomain helicase DNA binding (CHD2) gene can develop a rare and severe neurodevelopmental disorder that renders them wheelchair-bound, nonverbal and with profound intellectual delays.

24 Oct 2024

Researchers develop decision tree to help clinicians predict genetic diagnoses in neurodevelopmental cases

A study identifies motor delay and hypotonia as key predictors of genetic diagnoses, aiding clinicians in neurodevelopmental care and genetic testing decisions.

16 Oct 2024

Motor delays and hypotonia differentiate neurodevelopmental disease patients with and without genetic diagnoses

Researchers identified key clinical factors like motor delays and hypotonia that predict genetic diagnoses in children with neurodevelopmental disorders, creating a decision tree to guide clinicians.

14 Oct 2024

New gene variants linked to early menopause and cancer risk identified

Study reveals nine gene variants linked to ovarian aging and cancer risk, with implications for reproductive longevity and de novo mutation rates.

12 Sep 2024

A new genetic perspective on monilethrix

From infancy and usually for life, some families suffer from broken hair due to a congenital form of hair loss called monilethrix. Researchers at the University Hospital Bonn and the University of Bonn have now identified causative mutations in another keratin gene, KRT31. They hope that this will improve the diagnosis of this rare disease. Their results have now been published in the renowned "British Journal of Dermatology".

5 Sep 2024

Exome Sequencing News and Research

Scientists uncover rare gene variants that help people live past 100

Firefighting chemicals leave brain cancer-linked mutations, study shows

High-resolution DNA sequencing data for 37,000 children and parents released

Global partnerships transforming diagnosis and treatment for rare genetic diseases

Scientists uncover hidden genetic causes of congenital heart disease

Blood immune cells found to impact cancer survival

First insights into familial ALS in Egypt reveal genetic variations and disease progression

ImmuneLENS method provides new insights into cancer prognosis

Alzheimer’s escape: How one man defied his genetic fate for nearly two decades

Neoantigen DNA vaccines improve survival and immunity in triple-negative breast cancer patients

Mapping tumor microenvironments: Uncovering spatial subclones for improved cancer treatment

Deletion of long non-coding RNA linked to rare neurodevelopmental disorder

Researchers develop decision tree to help clinicians predict genetic diagnoses in neurodevelopmental cases

Motor delays and hypotonia differentiate neurodevelopmental disease patients with and without genetic diagnoses

New gene variants linked to early menopause and cancer risk identified

A new genetic perspective on monilethrix

Clonal hematopoiesis drives femoral atherosclerosis in middle-aged adults

Study reveals key genetic markers for early onset bicuspid aortic valve complications

Rare genetic mutation tied to increased risk of tuberculosis

Expanding the TTN mutation spectrum for dilated cardiomyopathy diagnosis

How ELRIG Is Helping Mid-Career Scientists Navigate Leadership, Career Change and Redundancy

The role of UV-Vis in biopharma QC

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