The Recovery Fund Program includes preventive screening for Spinal Muscular Atrophy carriers and the p.Phe508del variant of Cystic Fibrosis, in Crete and Ikaria
Included in the Recovery and Resilience Fund is the grant of the Child Health Institute for the implementation of preventive perinatal (neonatal) checks for Spinal Muscular Atrophy (NMA) and Severe Combined Immunodeficiencywith a total budget of 2,022,440 euros.
The aim of the National Program for the Prevention of Spinal Muscular Atrophy, which is the third most common serious genetic disease in Greece, is to offer prospective parents the freedom of reproductive options and the possibility, if they wish, to prepare for early treatment of the disease immediately after birth, benefiting from the proven maximum performance of existing treatments during the pre-symptomatic period.
In patients with NMA, early detection of sufferers and the administration of appropriate treatments can prevent the rapid and irreversible loss of motor function caused by the disease. Without newborn screening, the possibility of early diagnosis and the provision of optimal medical care that could prevent the progression of the disease is lost.
Also, with the same decision, it joins the Recovery Fund Program for the preventive screening of Spinal Muscular Atrophy carriers and the p.Phe508del variant of Cystic Fibrosis in women of reproductive age, age range 20-35 years, in the Region of Crete and Ikaria.
Source :Skai
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