New genes for rare diseases identified

Olga Sakun – Vatican City

Despite the pandemic, in 2020 the Vatican Children’s Clinic “Bambino Gesu” gave the name to 13 rare genetic diseases, and in the first two months of this year identified 4 more genes that cause rare diseases: we are talking about a syndrome that affects the entire set of bones of the human body, and about three diseases associated with the development of the nervous system, with an extremely complex clinical picture, including damage to various tissues and organs.

The results of the research, funded by the Bambino Gesu Foundation and the Italian Ministry of Health, are published in the American Journal of Human Genetics.

Since 2016, the Vatican Hospital has operated a special outpatient clinic for children with rare pathologies that do not have a name, and over the past year, 40 thousand genetic tests have been performed.

As Cardinal Peter Tarkson, Prefect of the Vatican’s Department for the Integral Development of Human Development, noted in his message for the Day of Rare Diseases, the number of rare pathologies is constantly growing, and there are already more than 6 thousand of them. 72 percent of them are of genetic origin, and 70 percent appear at pediatric age. Patients suffering from these diseases often do not receive adequate attention from doctors due to a lack of information and the impossibility of a timely diagnosis. The time that passes from the onset of the disease to the recognition of disability is stretched, and patients cannot receive not only proper medical care, but also social support. The COVID-19 pandemic has made the situation of patients without diagnosis even more difficult, since various restrictions, delays, and in some places even denial of treatment, medicines, and diagnostic tests have led to severe consequences for the mental and physical health of patients with rare diseases.