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Rare variants of type I IFN immunity genes could underlie life-threatening COVID-19

Researchers assessed whether loss-of-function variants of type I interferon immunity genes are associated with life-threatening COVID-19.

27 Oct 2022

What parents need to know about prenatal tests | BGI Perspectives

The birth of every new life is to be celebrated! Expecting parents often advised by doctors from the department of gynecology and obstetrics to consider noninvasive prenatal tests (NIPT).

From BGI Genomics 26 Oct 2022

Yourgene Health Receives HSA approval for IONA Nx NIPT Workflow in Singapore

Yourgene Health plc (“Yourgene”, AIM: YGEN), a leading international molecular diagnostics group, today announced it has received Health Sciences Authority (HSA) approval for its IONA® Nx NIPT Workflow in Singapore.

From Yourgene Health 29 Sep 2022

New modeling system identifies potential therapeutics for autosomal recessive polycystic kidney disease

Organoids-;lab grown cells or tissues that resemble organs-;serve as a new tool for disease modeling, but researchers often have difficulty replicating the biophysical conditions in which the organs operate within the body.

22 Sep 2022

Study identifies a promising target for polycystic kidney disease treatment

Blocking the inhibition of PKD1 and PKD2 gene expression by deleting a binding site for microRNAs hindered the formation and growth of kidney cysts in autosomal dominant polycystic kidney disease (ADPKD) models, UT Southwestern researchers reported.

16 Sep 2022

A genome-wide catalog of rare copy-number variant associations for 54 disease phenotypes

A recent study published in Cell illustrated a human genome map with dosage sensitivity across disorders.

9 Aug 2022

New insights into the understanding of how ApoE variants contribute to Tau pathology in Alzheimer’s disease

Researchers examined the impact of tau neuropathology of APOE3 Christchurch (APOE3ch) homozygote against Alzheimer’s disease.

8 Aug 2022

Study finds disparities in first evaluation of infants with cystic fibrosis from minoritized groups

Infants from minoritized racial and ethnic backgrounds who have positive newborn screening tests for cystic fibrosis received their diagnostic follow-up for the disease later than recommended and later than white, non-Hispanic infants, according to a study published in the Journal of Cystic Fibrosis.

27 Jul 2022

Study uncovers an over-looked mechanism that likely contributes to autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic condition that can lead to kidney failure and that has no cure.

13 Jul 2022

Gene defect underlying Krabbe disease causes degeneration of neurons directly, study finds

The gene defect underlying Krabbe disease causes degeneration of neurons directly, independent of its effects on other cell types, according to a new study publishing July 5th in the open-access journal PLOS Biology by Daesung Shin of the University at Buffalo, U.S. and colleagues.

5 Jul 2022

Ketogenic diets may help ward off polycystic kidney disease

The team of UC Santa Barbara biochemist Thomas Weimbs published the results of a clinical study that gives the first indication that ketogenic diets may be safe and effective in patients with polycystic kidney disease (PKD).

7 Jun 2022

Single-cell genomic sequencing identifies a subpopulation of human dopamine neurons that degenerates in Parkinson’s disease

Researchers developed a novel protocol to examine dopamine (DA) neurons extracted from Parkinson’s disease (PD) patients using single-cell genomic sequencing.

9 May 2022

Research shows how Alzheimer's disease affects the functional architecture of the brain

A new study led by investigators at Massachusetts General Hospital (MGH) shows the impact of early amyloid-β and tau protein accumulation on disrupting connections between brain structures that are important for memory.

3 May 2022

Understanding sex differences in the pathophysiology of SARS-CoV-2 infection

A recent study published in the journal Immunology analyzed whether sex mattered in the immune response to SARS-CoV-2.

29 Apr 2022

Using CRISPR/Cas to develop biosafety materials

Researchers discuss the use of the highly efficient CRISPR/Cas technologies to identify viral genome sequences for biosafety purposes.

21 Mar 2022

Novel promising biomarker correlates with the severity of facioscapulohumeral muscular dystrophy

There is currently no effective treatment for facioscapulohumeral muscular dystrophy (FSHD), one of the most common neuromuscular diseases, which is caused by an abnormal expression of the transcription factor DUX4.

15 Feb 2022

Gene therapy can provide long-lasting therapeutic benefit in Huntington's disease

Gene therapy targeting the messenger RNA (mRNA) of the mutated huntingtin gene (HTT) can provide long-lasting therapeutic benefit in Huntington's disease after a single administration.

25 Jan 2022

NIH study provides a framework to evaluate Stargardt disease progression

National Eye Institute researchers developed and validated an artificial-intelligence-based method to evaluate patients with Stargardt, an eye disease that can lead to childhood vision loss.

25 Jan 2022

New phenotype of LRP6 mutation reported for the first time in patients with tooth agenesis

A group led by Prof. Han Dong of Peking University School of Stomatology reported for the first time hand preaxial polydactyly in patients with tooth agenesis carrying a previously unknown mutation of low-density lipoprotein receptor-related protein 6 (LRP6).

29 Nov 2021

Scientists use advanced microscopes to delve deeper into protein degradation process

Proteins are the building blocks of all living things. A vast amount research takes place on how these proteins are made and what they do, from enzymes that carry out chemical reactions to messengers that transmit signals between cells.

17 Nov 2021