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Study reveals accelerated progression of Alzheimer's in people with Down syndrome

Nearly all adults with Down syndrome will develop evidence of Alzheimer's disease by late middle age.

16 Apr 2024

CNIC researchers unravel complexities of Andersen-Tawil syndrome

A team at the Centro Nacional de Investigaciones Cardiovasculares (CNIC) has made a breakthrough discovery in the understanding of cardiac arrhythmias by unraveling the complexities of Andersen-Tawil syndrome (ATS), an extremely rare inherited cardiac disorder.

10 Apr 2024

LMU researchers shed light on DNA repair mechanisms in Cockayne syndrome

Cockayne syndrome is a severe autosomal recessive disorder caused by defective DNA repair mechanisms.

10 Apr 2024

Genetic analysis reveals hidden causes of chronic kidney disease in adults

Chronic kidney disease (CKD) is extremely prevalent among adults, affecting over 800 million individuals worldwide.

3 Apr 2024

Personalizing exercise to fight obesity: Study finds genetics influence effectiveness

A recent study in JAMA Network Open reveals that genetic risk influences how physical activity interventions counter obesity, suggesting a personalized approach to exercise based on one's genetic makeup might be more effective in managing obesity.

28 Mar 2024

Females' immune system edges out males but at a cost of higher autoimmune risk

A review article highlights how two X chromosomes in females influence immune system composition and function, leading to faster infection clearance and stronger vaccination responses but also a higher risk of autoimmune diseases.

22 Feb 2024

Historic DNA analysis identifies Down and Edwards syndromes in ancient humans

By analyzing ancient DNA, an international team of researchers have uncovered cases of chromosomal disorders, including what could be the first case of Edwards syndrome ever identified from prehistoric remains.

20 Feb 2024

Cadaveric pituitary-derived growth hormone delivery influences iatrogenic Alzheimer’s Disease

Recipients of cadaver-derived pituitary growth hormone (c-hGH) developed biomarker changes in the realm of Alzheimer’s disease (AD).

31 Jan 2024

Study shows effectiveness of gene therapy in treating congenital deafness

A new study co-led by investigators from Mass Eye and Ear, a member of Mass General Brigham, demonstrated the effectiveness of a gene therapy towards restoring hearing function for children suffering from hereditary deafness.

24 Jan 2024

Scientists discover new genetic cause of inherited kidney disease

Genetic changes or mutations can cause hereditary kidney disease, which can eventually lead to dialysis or the need for kidney transplantation. Identifying the cause of inherited kidney disease is the first step in identifying a treatment.

22 Jan 2024

Cancer drug holds promise for shrinking polycystic kidney cysts

Autosomal dominant polycystic kidney disease (ADPKD), the most common form of polycystic kidney disease, can lead to kidney enlargement and eventual loss of function.

22 Jan 2024

Landmark study confirms five key Parkinson's Disease variants in largest meta-analysis

Rare Parkinson’s disease (PD) variants in a large-scale cohort.

10 Jan 2024

Genome haplarithmisis sheds light on complex genetic landscape of miscarriages

A new study published in Nature Medicine reports on a chromosomal analysis of over 1,700 spontaneous early miscarriages.

27 Nov 2023

Breakthrough study: inhibiting USP30 gene offers hope in treating Parkinson’s disease

Whether USP30 inhibition can serve as a disease-modifying therapy for Parkinson's disease (PD).

15 Nov 2023

New study provides insights about mosaic chromosomal alterations in diverse populations

As people age, the DNA in their cells begins to accumulate genetic mutations. Mosaic chromosomal alterations (mCAs), a category of mutations acquired in blood cells, are linked with a 10-fold increased risk of developing blood cancer.

1 Nov 2023

Proof-of-concept study holds promise for safer gene therapy techniques for treating immunodeficiencies

Researchers described an approach to edit the recombination-activating gene 2 (RAG2) locus for therapeutic applications.

1 Nov 2023

Investigational drug restores calcium levels in rare genetic disorder

An investigational drug, encaleret, restored calcium levels in people with autosomal dominant hypocalcemia type 1 (ADH1), a rare genetic disorder marked by an imbalance of calcium in the blood and urine, as well as abnormally low levels of parathyroid hormone, which regulates blood calcium levels.

13 Oct 2023