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Study demonstrates intricate relationship between Prpf19 and Exoc7 in inherited ataxias

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph Disease (MJD), describes the most common form of dominantly inherited ataxia in many populations worldwide, including Hong Kong and mainland China.

1 Mar 2021

Deep learning-based splice-AI can help predict the onset of Alzheimer's disease

Korea Brain Research Institute (KBRI, President Suh Pann-ghill) announced that the research team led by Dr. Jae-Yeol Joo discovered new cryptic splice variants and SNVs in PLCg1 gene of AD-specific models for the first time using Splice-AI.

1 Mar 2021

Diverse patient population helps identify gene variant associated with childhood asthma

Researchers at Henry Ford Health System, as part of a national asthma collaborative, have identified a gene variant associated with childhood asthma that underscores the importance of including diverse patient populations in research studies.

27 Feb 2021

No evidence of SARS-CoV-2 fusing into the human genome

New data from researchers led by Majid Kazemian from Purdue University refutes claims from recent studies suggesting the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) could create a host-virus chimeric RNA. Their team found SARS-CoV-2 does not combine with the human genome.

22 Feb 2021

Differences in gene readouts may shed light on mental disorders

A new study suggests that differences in the expression of gene transcripts - readouts copied from DNA that help maintain and build our cells - may hold the key to understanding how mental disorders with shared genetic risk factors result in different patterns of onset, symptoms, course of illness, and treatment responses

8 Feb 2021

Researchers update automated computation tool for SARS-CoV-2 genome analysis

Researchers updated a previous version of an automated tool to include SARS-CoV-2 genome analysis. Genome analysis using the freely available software could help track the evolution of the virus and promptly identify variants that increase viral transmission or virulence.

22 Jan 2021

Targeting RNA splicing can activate antiviral immune pathways in triple negative breast cancers

Researchers at Baylor College of Medicine have discovered how therapeutics targeting RNA splicing can activate antiviral immune pathways in triple negative breast cancers (TNBC) to trigger tumor cell death and signal the body's immune response.

15 Jan 2021

Research on genetic heart disease uncovers new mechanism for heart failure

Research on genetic heart disease has uncovered a new and unexpected mechanism for heart failure. This landmark discovery found a correlation between the clumping of RNA-binding proteins long linked to neurodegenerative disease and the aggregates of protein found in the heart tissue of patients with RBM20 dilated cardiomyopathy.

19 Nov 2020

New method using light-activated liposomes is safer, more direct to deliver CRISPR gene therapy

Light-activated liposomes could help to deliver CRISPR gene therapy - and the method could prove safer and more direct than current methods.

12 Nov 2020

Novel insights on a common protein could have broad biomedical applications

A new University of Colorado Boulder-led study sheds light on a protein key to controlling how cells grow, proliferate and function and long implicated in tumor development.

4 Nov 2020

Genetic analysis with RNA sequencing can increase diagnostic yield, shows study

In the world of rare genetic diseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease candidate variants identified first on exome and genome sequencing.

28 Oct 2020

Study uncovers new markers present on melanoma tumors

A collaborative study led by Monash University's Biomedicine Discovery Institute and the Olivia Newton-John Cancer Research Institute has uncovered new markers (HLA-associated peptides) that are uniquely present on melanoma tumours and could pave the way for therapeutic vaccines to be developed in the fight against melanoma.

16 Sep 2020