Autosomal News and Research

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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

Discovery of enzyme could provide new route for treating Huntington's disease

Scientists at EPFL's Brain Mind Institute have identified an enzyme that can play a central role in developing a new route of treatment for Huntington's Disease.

5 Aug 2020

Simple blood test may be a great advance for people with and at risk for Alzheimer's

A simple blood test for Alzheimer's would be a great advance for individuals with -; and at risk for -; the disease, families, doctors and researchers.

28 Jul 2020

German researchers recommend early screening and treatment for spinal muscular atrophy

The advent of therapeutic interventions for spinal muscular atrophy (SMA) has increased the importance of presymptomatic diagnosis and treatment. When to start treatment in children with less severe disease remains controversial.

11 Jun 2020

Drug offers hope for patients with primary hyperoxaluria type 1

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder that begins in childhood and adolescence.

8 Jun 2020

Research provides new evidence for potential blood-based biomarker for Alzheimer's

A potential blood-based biomarker for Alzheimer's and other neurodegenerative diseases seems even more promising thanks to new research from a Massachusetts General Hospital-led study.

27 May 2020

Study of rare genetic disorder that causes severe eyesight problems

Nagano prefecture is home to a group of people effected with a rare genetic neurodegenerative disorder called familial amyloid polyneuropathies. This disease impacts the gene encoding protein transthyretin which is produced in the liver and also eyes.

3 Apr 2020

Study offers new insight into genetic alterations associated with osteosarcoma

A study by researchers at the National Cancer Institute, part of the National Institutes of Health, offers new insight into genetic alterations associated with osteosarcoma, the most common cancerous bone tumor of children and adolescents.

19 Mar 2020

DNA topological problems may cause lymphoma, study shows

Researchers from the Spanish National Cancer Research Centre, Madrid, and the Andalusian Molecular Biology and Regenerative Medicine Centre, Seville, published today a paper in Nature Communications that shows that DNA topological problems may cause endogenous DNA breaks that have a causal relationship with cancer.

24 Feb 2020

Clinical trial of two investigational drugs for rare, inherited Alzheimer's yields disappointing results

An international clinical trial evaluating whether two investigational drugs can slow memory loss and cognitive decline in people in the early stages of a rare, inherited form of Alzheimer's disease has yielded disappointing results, an initial analysis of the data has shown.

10 Feb 2020

New genetic screen for Huntington’s disease

Huntington’s disease is a genetic disease that is debilitating and progressive leading to severe brain damage and eventual death. In patients with this autosomal dominant disease, there is presence of a protein called the Huntingtin protein that forms clumps within the brain leading to the symptoms of the disease.

30 Jan 2020

Children's National receives new funding to strengthen global polycystic kidney disease initiative

Lisa M. Guay-Woodford, M.D., McGehee Joyce Professor of Pediatrics at Children's National Hospital, has received a $5.7 million dollar gift to support clinical and research activities.

13 Nov 2019