Congenital, Hereditary, and Neonatal Diseases and Abnormalities: News and Research on Machado-Joseph Disease

MeSH tree: C16.320.400.780.875.500

Genome mapping of Brazil's diverse population uncovers new variants linked to health

For the first time, an international study has deciphered the genome of the population of Brazil. Published in the journal Science, the research includes the African, Native American, and European ancestries making up this ...

May 15, 2025

0

125

Researchers predict the age of onset of polyglutamine diseases with machine learning

Using machine learning, researchers at the Department of Neurology at Niigata University have developed a model to predict the asymptomatic probability at each age from the current age and number of CAG repeats in carriers ...

Jun 15, 2023

0

32

Gut bacteria changes could signal onset of rare genetic disease

New research may have uncovered a relationship between changes in bacteria in the gut and a rare neurodegenerative disease that primarily affects people in a remote Indigenous community in the Northern Territory.

Jun 6, 2023

0

84

First Nations communities struggle with a rare disease that affects muscles for speech

Machado-Joseph disease (MJD) is a rare neurodegenerative disease that affects muscles in the body, including those required for speech. It is prevalent in some remote First Nations communities in the Northern Territory and ...

Dec 16, 2022

0

35