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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

Review of COVID-19 clinical and viral characteristics, pathogenesis, and genetics

A new review article investigates the clinical and viral characteristics, pathogenesis, as well as human genetic basis associated with COVID-19.

27 Sep 2021

Role of host gene variants in COVID-19 severity

A new study discusses the importance of common, rare, and intermediate variants of several host genes to the clinical severity of infection with SARS-CoV-2.

20 Sep 2021

Gitelman syndrome more common in Japanese population than previously reported

Clinical Fellow KONDO Atsushi and Professor NOZU Kandai et al. of Kobe University's Graduate School of Medicine have estimated the prevalence of Gitelman syndrome across different ethnicities using a genome database.

30 Aug 2021

Clinical trials during a pandemic – lessons from COVID-19

In this interview, Dr. Benedicte Roquebert, Dr. Stephanie Haim-Boukobza and Dr. Souad Mehlal discuss how COVID-19 has resulted in new ways to think about clinical trials during a pandemic.

From Cerba Research 23 Jul 2021

Investigational Alzheimer's drug reduces molecular markers of the disease

An investigational Alzheimer's drug reduced molecular markers of disease and curbed neurodegeneration in the brain, without demonstrating evidence of cognitive benefit, in a phase 2/3 clinical trial led by researchers at Washington University School of Medicine in St. Louis through its Dominantly Inherited Alzheimer Network-Trials Unit (DIAN-TU).

21 Jun 2021

FDA approves new drug for treatment of adults with chronic kidney disease

Today, the U.S. Food and Drug Administration approved Farxiga (dapagliflozin) oral tablets to reduce the risk of kidney function decline, kidney failure, cardiovascular death and hospitalization for heart failure in adults with chronic kidney disease who are at risk of disease progression.

30 Apr 2021

Study offers clues to clinical diagnosis of nephronophthisis in adults

Nephronophthisis (NPH) is a kidney disease affecting mainly children. Now, for the first time, researchers at Tokyo Medical and Dental University have studied a number of adults with NPH and highlighted clinical, genetic and pathological characteristics that could help in confirming this challenging diagnosis.

23 Apr 2021

Chemical modification of RNA appears to play a critical role in inherited kidney disorder

A chemical modification of RNA that can be influenced by diet appears to play a key role in polycystic kidney disease, an inherited disorder that is the fourth leading cause of kidney failure in the U.S., UT Southwestern researchers report in a new study.

13 Apr 2021