According to the authors, these findings provide valuable insights for clinicians caring for very young people with cystic fibrosis. Identifying infants at higher risk of early pulmonary exacerbations ...

The mother of a four-year-old boy with a rare muscle disease says screening newborn babies for the condition could "save ...

Newborn babies on the Isle of Wight can now be tested for Spinal Muscular Atrophy (SMA).

The UK National Screening Committee published its decision to advise against screening for metachromatic leukodystrophy (MLD) on Thursday, a rare genetic condition which causes a progressive loss of p ...

The NHS carries out up to five-times fewer checks on newborn babies than those performed by some other developed nations.

Equipment, training, professional exchange: Thanks to this cooperation, the clinic in Lviv can perform state-of-the-art genetic analyses and detect rare diseases in newborns at an early stage. The ...

A County Armagh mother, whose five-year-old daughter has Spinal Muscular Atrophy (SMA), has said singer Jesy Nelson should know "there is light at the end of the tunnel". The former Little Mix star ...

Gene therapies can now prevent newborns with spinal muscular atrophy (SMA) being left paralysed - but only if administered at birth before damage has occurred ...

Little Mix star Jesy Nelson has launched a campaign with The Mirror, calling for spinal muscular atrophy to be added to the newborn heel prick test ...

Singer Jesy Nelson has vowed to 'fight' for change in the healthcare system after her twin daughters were diagnosed with a rare genetic condition.

Ezra Thorman was not supposed to survive but was one of first babies in the world to be treated for spinal muscular atrophy (SMA) - but it was diagnosed late as babies are not regularly screened ...