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Research sheds light on genetic variants' impact beyond autism diagnosis

Scientists conducted the largest meta-analysis to elucidate the phenotypes of ASD-diagnosed individuals .

30 Jun 2023

Multi-ethnic genome study unlocks new genetic links to health conditions

Research explores the genetic architecture of circulating metabolites, uncovering novel variant-metabolite associations and validating previous findings. It provides insights into the genetic contribution to metabolite levels and potential implications for human disease.

31 May 2023

Study provides data to support gene supplementation as a treatment for autosomal dominant retinitis pigmentosa

A new study shows that total RPE65 protein levels in mice with autosomal dominant retinitis pigmentosa were doubled following subretinal delivery of adeno-associated virus (AAV)-RPE65 gene supplementation.

23 May 2023

Newly identified genetic variant provides protection from Alzheimer's disease

A single patient can spark new research questions and provide answers about a disease. And when a new case is identified, investigators can make connections between them that can lead to even more powerful and persuasive ideas about cause and treatment.

15 May 2023

Research provides new insights into the underlying disease mechanisms for polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is the most common potentially lethal genetic disease-;about a half million people in the United States alone suffer from the condition.

4 Apr 2023

Beethoven's cause of death revealed through DNA analysis of his hair

In a recent article published in the journal Current Biology, an international team of researchers sequenced the whole genome to high coverage from eight authenticated hair strands from Ludwig van Beethoven, one of the most influential European classical music composers born in 1770. He died on March 27, 1827.

27 Mar 2023

Review explores trehalose's effects on metabolism and gut microflora

researchers review the bioactive properties of trehalose and its potential pharmaceutical, medical, cosmetic, and food-related applications.

20 Mar 2023

Individuals with autosomal and X-linked recessive deficiency of IRAK-4 and MyD88 are more susceptible to developing hypoxemic COVID-19 pneumonia

Researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 receptor-associated kinase 4 (IRAK-4) due to an autosomal recessive condition were highly susceptible to developing hypoxemic coronavirus disease 2019 (COVID-19) pneumonia when infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).

9 Mar 2023

Safety of a gene therapy to treat alpha 1-antitrypsin deficiency

Researchers report on the safety of a gene therapy to treat the common autosomal recessive hereditary disorder alpha 1-antitrypsin (AAT) deficiency in a new article in the peer-reviewed journal Human Gene Therapy.

22 Feb 2023

First successful correction of limb length in mouse model of autosomal dominant Robinow Syndrome

Robinow Syndrome is the best known of a set of genetic disorders that affect the growth and development of the skeletal system.

15 Feb 2023

New research may explain why some patients suffer from long-COVID

A review article published in The Journal of Clinical Investigation deciphers the relationship between rare inborn errors of type I interferon immunity and the development of severe coronavirus disease 2019 (COVID-19) pneumonia.

6 Feb 2023

Genetic disorder that causes immunodeficiency and susceptibility to opportunistic infections discovered

An international consortium co-led by Vanderbilt University Medical Center immunogeneticist Rubén Martínez-Barricarte, PhD, has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility to opportunistic infections including a life-threatening fungal pneumonia.

23 Jan 2023

Researchers investigate Scandinavian history across 2,000 years

Researchers investigated the history of Scandinavia from the Roman period (between 1.0 CE and 400.0 CE) to the present, spanning over 2,000 years.

10 Jan 2023

Underlying genetic cause for MIS-C complications after COVID-19 identified

A recent Science journal study determined the underlying cause of MIS-C related to SARS-CoV-2 in some children. It hypothesized that monogenic inborn errors of immunity (IEI) is the primary reason for this condition. Identifying these inborn errors is expected to help elucidate the disease's cellular, molecular, and immunological basis.

2 Jan 2023

Scientists study OAS–RNase L errors and COVID-19-associated multisystem inflammatory syndrome in children

Researchers assessed the inborn abnormalities of 2′-5′-oligoadenylate synthetase (OAS)-ribonuclease L (RNASEL) noted in coronavirus disease 2019 (COVID-19)-associated multisystem inflammatory syndrome in children (MIS-C).

23 Dec 2022

ACMG's new guideline strongly recommends the use of noninvasive prenatal screening for fetal chromosome abnormalities

The American College of Medical Genetics and Genomics (ACMG) has released a new Evidence-Based Clinical Practice Guideline (EBG), "Noninvasive prenatal screening for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics."

16 Dec 2022

Study uncovers previously unknown genetic cause of late-onset cerebellar ataxia

A new study published on Dec. 14, 2022 in the New England Journal of Medicine reports the identification of a previously unknown genetic cause of a late-onset cerebellar ataxia, a discovery that will improve diagnosis and open new treatment avenues for this progressive condition.

15 Dec 2022

New chemical probe can selectively inhibit human COQ8A protein in cells

Inhibition of the COQ8 protein could be beneficial in the treatment of diseases such as cancer. COQ8 is needed for the biosynthesis of coenzyme Q, also known as ubiquinone.

28 Nov 2022

The roles of innate and adaptive immunity in Alzheimer’s disease development and progression

Researchers reviewed research advancements showing the significant role both innate and adaptive immune systems play in the pathological course of Alzheimer’s disease.

10 Nov 2022

Scientists illuminate the molecular events underlying childhood movement disorder

Scientists at the UNC School of Medicine and UNC Eshelman School of Pharmacy, in collaboration with a team from Queen Mary University of London, have illuminated the molecular events underlying an inherited movement and neurodegenerative disorder known as ARSACS – Autosomal recessive spastic ataxia of Charlevoix-Saguenay, named for two Quebec valleys where the first cases were found.

3 Nov 2022