Prader-Willi syndrome is a rare genetic disease (it affects one baby in 30,000 births in Europe) which is characterized by a lack of muscle tone and difficulty in feeding at birth, then by precocious obesity associated with overeating during childhood and childhood. ‘adolescence.
So far, no treatment has shown its effectiveness. But a team of researchers from Duke University (United States) has just obtained promising results in mice. In most cases of Prader-Willi syndrome, the gene responsible for chromosome 15 from the father is absent and the mother’s copy is silent.
Hope for a cure for this rare disease
In the course of their research, the scientists succeeded in activating the maternal copy of the gene. “Our results are promising and indicate that we can follow this path” explains Prof. Yong-hui Jiang, main author of the study published in the journal Nature medicine. Researchers now need to assess the effects of this genetic modification on symptoms of the disease such as compulsive eating and obesity.
Read also :
30 years of the Telethon: how it has advanced research
A crowdfunding platform to advance research on rare diseases
