Autosomal News and Research

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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

Study sheds new light on the role of Y chromosome genes

New light is being shed on a little-known role of Y chromosome genes, specific to males, that could explain why men suffer differently than women from various diseases, including Covid-19.

25 Sep 2020

Scientists identify new genetic cause of syndromic microcephaly

Greenwood Genetic Center researchers, in collaboration with scientists from Belgium, Spain, and Italy, have confirmed that variants in LMNB1 cause syndromic microcephaly with variable short stature, intellectual disability, and other neurological symptoms.

17 Sep 2020

Exploring sex differences in gene expression

Males and females share the vast majority of their genomes. Only a sprinkling of genes, located on the so-called X and Y sex chromosomes, differ between the sexes. Nevertheless, the activities of our genes--their expression in cells and tissues--generate profound distinctions between males and females.

12 Sep 2020

Researchers reproduce the pathogenesis of hereditary kidney disease from human iPS cells

Joint research, led by Kumamoto University in Japan, has successfully reproduced the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD) from human iPS cells in vitro.

21 Aug 2020

Large-scale analysis of Alport syndrome reveals the effectiveness of existing treatments

A large-scale analysis of the clinical characteristics of Alport syndrome in Japanese patients has revealed that the effectiveness of existing treatment with ACE inhibitors and/or angiotensin receptor blockers (RAS inhibitors) varies depending on the type of mutation in the syndrome's causal gene (COL4A5).

7 Aug 2020