RSU Scientific Laboratory of Molecular Genetics Performs Diagnostics of Rare Disease in Newborns
A research project is being implemented at the Rīga Stradiņš University (RSU) Scientific Laboratory of Molecular Genetics introduce spinal muscular atrophy (SMA) diagnostics in screenings of newborns. This allows early treatment to be started before symptoms start.
Spinal muscular atrophy is a rare genetically inherited disease. After birth, a baby can be completely healthy, with the first symptoms appearing after six months or even later, when treatment is less effective than in the first days. The professionals involved in the project (paediatric neurologists, geneticists, physical medicine and rehabilitation doctors, as well as other treatment and healthcare professionals) hope that early diagnostics will not only help delay, but even stop the onset of the disease.
Project Manager, Leading Researcher at the RSU Scientific Laboratory of Molecular Genetics,
Asst. Prof. Dr. med. Madara Kreile
Newborns in Latvia are screened for six other congenital diseases 48–72 hours after birth. With the parents’ consent, genetic testing can be performed using blood samples to determine if a child is at risk of developing spinal muscular atrophy. Diagnosis of this rare disease has now been carried out in almost 4,000 babies, and in one case signs of the disease were detected, enabling treatment to be started immediately before symptoms appeared.
In Latvia, patients who have been diagnosed with SMA after the onset of symptoms and who meet the criteria for starting treatment can receive state-funded treatment. Project developers hope that it will be possible to expand newborn screening in the future to include spinal muscular atrophy diagnostics. The disease is characterised by severe muscle weakness in the arms and legs, difficulty sitting and getting up. Some children do not start walking at all and some lose this ability over time.