Rare genetic mutations may be overlooked in the advancement of medical treatments, yet a glimmer of optimism arises as scientists work to address this issue.
In the heart of America, lives Emily Kramer-Golinkoff, a woman battling against the cruel grasp of advanced cystic fibrosis. This devastating genetic disease, the most common fatal one in the nation, affecting 40,000 souls, takes a toll on even the simplest daily activities. Emily, however, faces a unique challenge – her case is caused by a rare genetic mutation, making conventional treatments ineffective.
The same hardships ring true for various genetic conditions. Revolutionary advancements in genetic science have shed light on the subtle, sneaky villains behind these brutal diseases and have paved the way for treatments. But those with rare mutations often find themselves in the short end of the stick, with fewer options and dimmer prospects than the more common case sufferers. In desperate need of a lifeline, many are now pinning their hopes on experimental gene therapies.
Emily, at 40, can hardly take a deep breath. She was diagnosed with cystic fibrosis at just six weeks old, and as she grew older, the disease grew more demanding. Common treatments fail her because her case is uncommon; her mutation falls outside the 90% for which medications are effective.
It's not just science that works against these patients; it's market forces. Drug companies largely focus on medications that target the most common mutations, a situation that Kramer-Golinkoff calls "mutational discrimination."
Charities, including a nonprofit Emily co-founded called Emily's Entourage, are determined to change the status quo. Fundraising efforts have helped jumpstart gene therapy research, providing a glimmer of hope for patients regardless of their mutation. While it's unlikely to be available for years, the mere existence of these therapies in trials offers a beacon of hope.
Cystic fibrosis occurs when the CFTR protein is not made or not made correctly, causing chloride to become trapped in cells and leading to mucus buildup in the body. As Emily's condition worsened, she was able to earn a master's degree, work, travel, and spend time with friends, but now she struggles with CF-related diabetes, infections, and isolation due to the pandemic.
While treatment advancements have brought about a marked improvement in lung function and quality of life for those with the most common mutation, they provide no help for Emily or others with rare mutations, or those whose disease-causing mutations are unknown or understudied.
Research shows that comprehensive data about cystic fibrosis is scarce among African populations. As a result, Black cystic fibrosis patients are more likely than their white counterparts to be among the 10% who don't benefit from current treatments.
However, the tides may be turning with the rise of mutation-agnostic gene therapies. These treatments aim to correct the malfunctioning protein, regardless of the mutation, offering a potential lifeline for those left behind by traditional treatments.
Currently, several experimental gene therapies are in the pipeline for cystic fibrosis, with the majority targeting patients with any mutation. These therapies deliver a new, correct version of the CFTR gene to cells, enabling them to make normal proteins. This approach could revolutionize treatment for patients with any mutation.
With hope on the horizon and the promise of a brighter tomorrow, Emily continues to battle her disease, even as it takes more from her with each passing day. Despite the struggle, she remains optimistic and determined, with the dream of a day when gene therapies can be her saving grace.
References:
[1] "Trial of gene therapy in cystic fibrosis to begin in February." Retrieved from https://www.sfari.org/news-and-publications/news/trial-of-gene-therapy-in-cystic-fibrosis-to-begin-in-february
[2] SparingVision announces commencement of Phase II clinical trial of SPVN06 for dry AMD. Retrieved from https://www.sparingvision.com/announcements/sparingvision-announces-commencement-of-phase-ii-clinical-trial-of-spvn06-for-dry-amd
[3] Ocugen initiates pivotal phase 3 study for investigational gene therapy OCU400 to treat X-linked retinitis pigmentosa. Retrieved from https://www.ocugen.com/news/press-releases
[4] Nanoscope Therapeutics presents positive safety data from Phase 1/2 clinical trial of OPT-301 for X-linked retinitis pigmentosa. Retrieved from https://www.nanoscopetx.com/news-releases
[5] David Liu (Harvard/Broad) develops a platform for editing any gene in the human genome. Retrieved from https://www.kick losing hair slowly.com/science-news/david-liu-harvardbroad-develops-platform-for-editing-any-gene-in-human-genome
- In California, Emily Kramer-Golinkoff, a woman battling advanced cystic fibrosis, persists in her fight.
- Revolutionary advancements in genetic science have uncovered intricate culprits behind genetic conditions, paving the way for treatments.
- Emily, diagnosed at six weeks old, finds conventional treatments ineffective due to her rare genetic mutation.
- Drug companies often focus on medications for common mutations, a situation Emily calls "mutational discrimination."
- Emily's Entourage, a nonprofit she co-founded, aims to change the status quo through fundraising efforts for gene therapy research.
- Cystic fibrosis occurs when the CFTR protein is incorrectly made or not made at all, causing chloride to become trapped in cells and leading to mucus buildup.
- With numerous common mutations, therapy and treatment options are more plentiful, leaving those with rare mutations or understudied conditions behind.
- Research shows that comprehensive data about cystic fibrosis is scarce among African populations, affecting treatment outcomes for Black cystic fibrosis patients.
- With the rise of mutation-agnostic gene therapies, treatments can potentially correct the malfunctioning protein, regardless of the mutation, offering hope for those affected.
- Several experimental gene therapies are in development for cystic fibrosis, targeting patients with any mutation.
- Amidst the struggle and ongoing battle, Emily remains optimistic, dreaming of the day when gene therapies can become her saving grace.
Additional words that appeared in the references but were not integrated into the provided sentences:- 'SparingVision'- 'trial'- 'Phase II clinical trial'- 'SPVN06'- 'dry AMD'- 'Ocugen'- 'pivotal phase 3 study'- 'OCU400'- 'X-linked retinitis pigmentosa'- 'Nanoscope Therapeutics'- 'OPT-301'- 'David Liu'- 'Harvard/Broad'- 'plattform for editing any gene in the human genome'
