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.…
Targeted treatment shows promise for severe spinal muscular atrophy Antisense drug nusinersen was well tolerated in trial of 20 babies with SMA, with majority showing improved muscle skills and function after treatment.…
FDA approves nusinersen for use in rare genetic condition The first drug approved to treat patients with the potentially fatal genetic disease spinal muscular atrophy has been approved for use in the United States.…
