Rare diseases

News

A trial of Vaderis' AKT inhibitor engasertib finds it could be the first effective treatment for rare disease hereditary haemorrhagic telangiectasia.

News

FDA reveals a regulatory pathway for personalised therapies based on 'plausible mechanism', drawing on the bespoke gene-editing treatment of Baby KJ.

Patients

A look at the benefits of genetic testing in diagnosis of rare kidney diseases, from HealthLumen.

News

Biohaven's troriluzole candidate for spinocerebellar ataxia (SCA) has been turned down by the FDA, in another sign of a tougher stance by the agency.

News

People living with thymidine kinase 2 deficiency (TK2d), a vanishingly rare and often fatal genetic disorder, finally have an approved therapy.

News

AstraZeneca's gefurulimab could give gMG patients the first treatment option that they can self-administer at home once a week.