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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

Hidden genetic defects can lead to all kinds of serious illnesses

For the first time researchers from Hebrew University of Jerusalem, Radboudumc, Maastricht UMC+ and international colleagues have gained insight into the "hidden genetic defects" of the general European population.

19 Mar 2021

Protein alteration contributes to degeneration of neuronal populations in Huntington's disease

Protein alteration in the family of lamins causes several diseases, known as laminopathies, such as progeria or precocious aging.

1 Feb 2021

NEI scientists develop and test a promising gene therapy strategy for rare eye disease

Scientists at the National Eye Institute have developed a promising gene therapy strategy for a rare disease that causes severe vision loss in childhood.

28 Jan 2021

Melatonin reduces cysts in the renal tubules of fruit flies

A hormone commonly associated with sleep-wake regulation has been found to reduce cysts in fruit flies, according to Concordia researchers. It's a finding that may affect the way we treat some kidney diseases and reduce the need for kidney transplants.

27 Jan 2021

A common genetic variant identified as risk factor for stroke

A team of Geisinger researchers has identified a common genetic variant as a risk factor for stroke, especially in patients older than 65.

19 Jan 2021

Hybrid approach reveals details about genes involved in Meier-Gorlin syndrome

Meier-Gorlin syndrome, or MGS, is a rare genetic developmental disorder that causes dwarfism, small ears, a small brain, missing patella and other skeletal abnormalities. In severe cases, MGS results in miscarriages and stillbirths.

14 Dec 2020

Research illuminates regulatory mechanism of ubiquitin-proteasome system in DNA damage repair

An international research team has clarified the regulatory mechanism of the ubiquitin-proteasome system in recognizing and repairing DNA that has been damaged by ultraviolet (UV) light.

8 Dec 2020

Otsuka Pharmaceutical enters into global agreement with Columbia University School of Public Health

Otsuka Pharmaceutical Development & Commercialization, Inc., announced an agreement with research experts from the Columbia University Irving Center Vagelos College of Physicians and Surgeons and Mailman School of Public Health to help support the epidemiological needs of Otsuka Global Pharmacovigilance (GPV) for products, enhanced training, and employee education.

25 Nov 2020

Somatic mutation may act as a natural gene therapy in patients with rare autosomal disease

Researchers affiliated with the Center for Cell-Based Therapy in Ribeirão Preto, Brazil, have identified for the first time a non-hereditary mutation in blood cells from a patient with GATA2 deficiency, a rare autosomal disease caused by inherited mutations in the gene that encodes GATA-binding protein 2 (GATA2).

17 Nov 2020

Convalescent plasma in COVID-19 can be effective, especially early in disease

A team of researchers in the United States have conducted an extensive literature review looking at the usage of convalescent plasma from recovered COVID-19 patients to treat those with an impaired immune system. Their study, titled “Therapeutic use of convalescent plasma in COVID-19 patients with immunodeficiency: A systematic review,” has been released on medRxiv*, the preprint server.

12 Nov 2020

AncestryDNA modeling study of 500,000 Americans sheds light on COVID-19 risk factors

Now, a new study by researchers at AncestryDNA, a company that provides DNA testing services that use modern autosomal testing technology, shows that some people are more susceptible to COVID-19 infection, and they may experience more severe outcomes, including males, the elderly, and those with comorbidities.

14 Oct 2020

UroCAD assay is better than urine cytology in detecting bladder cancer

Analysis of DNA copy number variants (CNVs) in the cells exfoliated in urine showed better sensitivity and similar specificity in detecting urothelial carcinoma compared with urine cytology.

9 Oct 2020