Exome Sequencing News and Research

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Innovative genetic approaches to rare disease diagnosis

The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic diagnosis.

22 Jul 2024

ARPP21 gene mutation could be the cause of ALS

Researchers from the Neuromuscular Diseases Group and the Dementia Neurobiology Group of the Sant Pau Research Institute (IR Sant Pau) and the Memory Unit of the Sant Pau Hospital, led by neurologist Dr. Ricard Rojas-García, have identified a new mutation in the ARPP21 gene that could be the cause of Amyotrophic Lateral Sclerosis (ALS), a devastating neurodegenerative disease.

11 Jul 2024

New study reveals the genetic cause of Parkinson's disease

According to Science Alert, neuroscientists from Johns Hopkins University have recently discovered a new treatment for Parkinson's disease using an FDA-approved cancer drug.

11 Jul 2024

New tool predicts nerve damage risk from breast cancer treatment

Many women treated for breast cancer using taxanes, a type of cytostatic drug, often experience side effects in the nervous system.

8 Jul 2024

More than 1,000 small changes in DNA identified that influence age of first period

Researchers examined nearly 800,000 women's DNA to explore puberty timing complexities. They identified signals related to menarche timing and investigated their influence on puberty onset.

4 Jul 2024

New study reveals rare genetic variants significantly increase atrial fibrillation risk

Researchers identified rare genetic variants that significantly increase the risk of atrial fibrillation, enhancing AF risk stratification by combining these with polygenic risk scores.

28 Jun 2024

Study: Anti-inflammatory drug celecoxib benefits PIK3CA-mutated colon cancer patients

An analysis of data from a randomized clinical trial for patients with stage 3 colon cancer found that those with PIK3CA mutations who took celecoxib, an anti-inflammatory drug, after surgery lived significantly longer and had longer disease-free survival compared to those without the mutation.

18 Jun 2024

New hope for GI cancers: Review analyzes molecular targets and treatment advancements

Gastrointestinal (GI) cancers, encompassing esophageal, gastric, small bowel, and colorectal carcinomas, represent a significant global health burden due to their high incidence and mortality rates.

18 Jun 2024

Mount Sinai researchers use AI to identify 17 key genes in heart disease

Using an advanced artificial intelligence tool, researchers at the Icahn School of Medicine at Mount Sinai have identified rare coding variants in 17 genes that shed light on the molecular basis of coronary artery disease (CAD), the leading cause of morbidity and mortality worldwide.

11 Jun 2024

Genome sequencing identifies genetic disorders missed by exome analysis

Genetic mutations in human DNA can prevent proteins that perform important functions in the body from being formed correctly.

10 Jun 2024

Gene therapy trial: restored hearing in children with hereditary deafness

The safety and effectiveness of binaural adeno-associated virus 1 (AAV1)-human otoferlin (hOTOF) therapy in five children with autosomal recessive deafness 9 (DFNB9).

7 Jun 2024

Inherited iron defects uncovered in endemic Indian population

Although iron deficiency anemia is the most prevalent form of anemia globally, it may be underdiagnosed due to lack of awareness or methodical screening.

20 May 2024

Proteins in the blood could warn people of cancer more than seven years before it is diagnosed

Researchers from the UK investigated associations between 1,463 plasma proteins and 19 cancers, using observational and genetic approaches in participants of the UK Biobank.

17 May 2024

New study identifies 17 genes driving clonal hematopoiesis in aging blood cells

Scientists have discovered 17 additional genes that drive the abnormal overgrowth of mutated blood cells as we age. The findings, published today (14 May) in Nature Genetics, provide a more complete view of the genetic factors behind clonal hematopoiesis – a process associated with ageing and linked to increased risks of blood cancers.

15 May 2024