Government-funded research to screen genomes of 100,000 babies for rare diseases The Newborn Genomes Programme, which will begin in 2023, will sequence the genomes of newborn babies to screen for rare conditions, to assess whether whole genome sequencing should be part of routine care.…
Clinical impact of CFTR modulator therapy roll-out An overview of the essential role a specialist cystic fibrosis pharmacist has in the optimisation of CFTR modulator combinations and a closer look at real-world clinical outcomes.…
Project to sequence 100,000 genomes from NHS patients hits target The 100,000 Genomes Project has reached its goal to sequence 100,000 genomes from NHS patients by the end of 2018, Matt Hancock, health and social care secretary, has announced.…
FDA approves new treatment for young children with Batten disease The first drug of its kind to be made available in the United States for children with a specific form of the inherited disorder, Batten disease, has been approved by the US Food and Drug Administration (FDA).…
Stem-cell screening finds statin alternative for hypercholesterolaemia Researchers discover a stem-cell based approach that may help identify new treatments for inherited liver diseases…
EMA recommends first EU treatment for spinal muscular atrophy The European Medicines Agency (EMA), which evaluates medicinal products for use in EU, has recommended nusinersen (Spinraza; Biogen) as a treatment for patients with spinal muscular atrophy (SMA). There is currently no approved therapy in the EU for SMA, a rare and often fatal genetic disease …
Naturally-occurring peptide shows promise for CF treatment Thymosin α1 is found to have strong potential to prevent the progression of cystic fibrosis.…
Rare but not forgotten: why drug appraisal methods must be updated to consider treatments for rare diseases The UK government needs to adapt its drug and technology appraisal methods to prevent patients with rare diseases being left out in the cold.…
FDA approves deflazacort for Duchenne muscular dystrophy but manufacturer delays launch over price concerns The US Food and Drug Administration has approved the first corticosteroid to be made available in the United States for the treatment of patients with Duchenne muscular dystrophy.…
US agency reaffirms folic acid advice for women planning pregnancy The US Preventive Services Task Force has reaffirmed its 2009 advice that all women who are planning or capable of pregnancy should take a daily supplement of folic acid of between 0.4mg and 0.8mg to reduce the risk of having a baby with neural tube defects.…
