Limited Options for Rare Mutations
Emily Kramer-Golinkoff, suffering from cystic fibrosis due to a rare genetic mutation, highlights the plight of patients unable to benefit from treatments that aid 90% of cystic fibrosis sufferers.
Advances in genetic science have paved the way for potential treatments, yet patients with rare mutations face 'mutational discrimination' due to market forces favoring more common mutations.
Hope Through Charitable Efforts and Gene Therapy Trials
Charities like Emily’s Entourage, co-founded by Kramer-Golinkoff, aim to bridge the gap left by pharmaceutical companies by funding gene therapy research that could benefit all cystic fibrosis patients, regardless of their mutation.
While current CFTR modulator therapies significantly improve the quality of life for those with common mutations, they are ineffective for rare mutation patients and those with unknown mutations, underscoring the need for inclusive genetic research and testing.