THE UNIVERSITY OF MALAGA has continued its series of summer lectures with a talk on rare diseases.
The talk, led by Pablo Lapunzina, scientific director of the Network Research Centre of Rare Diseases (CIBERER), was titled Rare diseases: the angel of personalised medicine.
Mr Lapunzina spoke about the importance of implementing a national genome plan, explaining, “it is a necessity because this strategy aims to guide and help the health authorities, both in the country and in communities, to implement the genetic diagnosis of patients throughout the territory,” adding the scheme would also assist research. MrLapunzina explained while politicians may be concerned about committing to such a scheme, he insisted the difficulties would be “a matter of organisation” rather than their “budget,” which he claimed was “less relevant.”
Rare diseases are considered to be those affecting more than five patients per ten thousand. There are currently thought to be between seven and eight thousand different rare diseases. As Mr Lapunzina explained, “The main challenge is to perform diagnoses within a reasonable time and within the patient’s own country. Unfortunately, many studies are sent to health centres abroad.”