Santa Lucía University Hospital of Cartagena

Every February 28 or 29, World Rare Disease Day is celebrated, an initiative that aims to raise awareness about rare diseases in order to improve access to diagnosis and treatment and achieve a better quality of life among those who suffer from them. Here are some frequently asked questions about the most important concepts, their current situation and the main complaints that affected individuals and families continue to have.   

A study in California has found that 41% of deaths in the first year of life are due to genetic diseases. This percentage is higher than previously thought. According to the authors, strategies to improve neonatal genetic diagnosis may reduce infant mortality, as this diagnosis is sometimes missed or arrives late. The research is published in JAMA Network Open.

The World Health Organisation (WHO) has issued a statement recommending skin-to-skin contact immediately after birth to improve the survival of premature and low birth weight babies. Until now, in clinical practice it was common for the first phase after birth to take place in the incubator.