Rare Mutations pose Challenges for Genetic Disease Patients
Struggles encountered in utilizing genetic medicine for those harboring uncommon gene alterations; however, novel prospects emerge.
While strides have been made in understanding and treating genetic diseases like cystic fibrosis, patients with exceptionally rare mutations experience limited treatment options and poorer prospects. Emily Kramer-Golinkoff, a 40-year-old woman battling advanced cystic fibrosis, voices her frustration as she grapples with a rare mutation that renders traditional medications ineffective.
Kramer-Golinkoff is one of 40,000 Americans affected by cystic fibrosis, the most common fatal genetic disease in the U.S. Unfortunately, her case is unique due to a rare genetic mutation that reduces the efficacy of existing treatments. A pervasive issue in genetic medicine, this "mutational discrimination" is driving hopeful patients to look towards experimental gene therapies.
"I feel a mix of pure joy for those lifted from the sinking ship, but a sense of urgency to join them," Kramer-Golinkoff shares her sentiment. "It's hard to be among the minority left behind when these therapies promise a change in the outlook for genetic diseases."
The issue is not just science at work but also market forces. Pharmaceutical companies naturally prioritize medications targeting the most prevalent mutations, leaving patients with rare mutations in the cold. Dr. Kiran Musunuru, a gene editing expert from the University of Pennsylvania, calls it a form of discrimination.
Charities, like the nonprofit Emily's Entourage, are working hard to bridge this gap. Fundraising initiatives have helped launch gene therapy trials with the potential to help patients regardless of their specific mutation. Though not likely to be available for several years, Kramer-Golinkoff acknowledges that simply having these therapies in trials provides significant hope.
Current treatments for genetic diseases, such as cystic fibrosis, are not a one-size-fits-all solution, with many patients with unknown or unstudied mutations being left out of existing treatment options. As previously untapped genetic testing companies like GeneDx work to screen people from diverse backgrounds, disparities remain.
For instance, comprehensive data about cystic fibrosis is scarce among African populations, exacerbating health disparities among Black cystic fibrosis patients. To overcome this, researchers are focusing on developing "mutation agnostic" gene therapies that target all patients, regardless of their specific mutation. This approach is already being applied in diseases of the retina and is being explored for cystic fibrosis as well.
One such mutation agnostic gene therapy is being sponsored by Spirovant Sciences, with Emily's Entourage providing seed capital for the company. While significant challenges persist, the promise of gene therapies continues to spark hope for those living with rare genetic diseases.
However, it's essential to stress that this article is informational in nature and should not be considered a substitute for professional medical advice. Always consult with your healthcare provider for any concerns regarding your health.
Note to readers: This article is for informational purposes only and not a substitute for professional medical advice. Always seek the advice of your doctor with any questions about a medical condition.
Key Points for Further Reading:
- Genetic disorders in India: Common types, risk factors, preventing transmission
- Study examines how rare gene mutation causes epilepsy
- New genetic mutation behind childhood glaucoma identified
- Emily's Entourage
- Spirovant Sciences
- Cystic fibrosis patients with rare mutations grapple with limited treatment options.
- Kramer-Golinkoff, a woman with advanced cystic fibrosis, experiences a unique case due to a rare mutation.
- Patients with exceptionally rare mutations are left out of existing treatment options for genetic diseases.
- The issue of "mutational discrimination" in genetic medicine fuels hope for patients to turn to experimental gene therapies.
- Dr. Kiran Musunuru calls this a form of discrimination, affecting patients with rare mutations.
- Charities like Emily's Entourage are working to bridge the gap, launching gene therapy trials.
- Current treatments for cystic fibrosis add to health disparities among Black cystic fibrosis patients due to limited data.
- Researchers focus on developing mutation agnostic gene therapies to target all patients, regardless of their specific mutation.
- One such mutation agnostic gene therapy is being sponsored by Spirovant Sciences.
- It's crucial to consult with your healthcare provider for any concerns regarding your health.
- In India, comprehensive information on genetic disorders is vital for understanding common types, risk factors, and transmission prevention.
- A study has examined the rare gene mutation causing epilepsy.
- Researchers have discovered a new genetic mutation behind childhood glaucoma.
- To learn more, check out the resources provided by Emily's Entourage and Spirovant Sciences.
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