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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

Rare variants of type I IFN immunity genes could underlie life-threatening COVID-19

Researchers assessed whether loss-of-function variants of type I interferon immunity genes are associated with life-threatening COVID-19.

27 Oct 2022

What parents need to know about prenatal tests | BGI Perspectives

The birth of every new life is to be celebrated! Expecting parents often advised by doctors from the department of gynecology and obstetrics to consider noninvasive prenatal tests (NIPT).

From BGI Genomics 26 Oct 2022

Yourgene Health Receives HSA approval for IONA Nx NIPT Workflow in Singapore

Yourgene Health plc (“Yourgene”, AIM: YGEN), a leading international molecular diagnostics group, today announced it has received Health Sciences Authority (HSA) approval for its IONA® Nx NIPT Workflow in Singapore.

From Yourgene Health 29 Sep 2022

New modeling system identifies potential therapeutics for autosomal recessive polycystic kidney disease

Organoids-;lab grown cells or tissues that resemble organs-;serve as a new tool for disease modeling, but researchers often have difficulty replicating the biophysical conditions in which the organs operate within the body.

22 Sep 2022

Study identifies a promising target for polycystic kidney disease treatment

Blocking the inhibition of PKD1 and PKD2 gene expression by deleting a binding site for microRNAs hindered the formation and growth of kidney cysts in autosomal dominant polycystic kidney disease (ADPKD) models, UT Southwestern researchers reported.

16 Sep 2022

A genome-wide catalog of rare copy-number variant associations for 54 disease phenotypes

A recent study published in Cell illustrated a human genome map with dosage sensitivity across disorders.

9 Aug 2022

New insights into the understanding of how ApoE variants contribute to Tau pathology in Alzheimer’s disease

Researchers examined the impact of tau neuropathology of APOE3 Christchurch (APOE3ch) homozygote against Alzheimer’s disease.

8 Aug 2022

Study finds disparities in first evaluation of infants with cystic fibrosis from minoritized groups

Infants from minoritized racial and ethnic backgrounds who have positive newborn screening tests for cystic fibrosis received their diagnostic follow-up for the disease later than recommended and later than white, non-Hispanic infants, according to a study published in the Journal of Cystic Fibrosis.

27 Jul 2022