Cystic fibrosis (CF) is a genetic disorder; about 40,000 Americans live with this disease. Emily Kramer-Golinkoff (40 years), suffering from severe CF, had a rare genetic mutation that excluded her from standard treatment that has revolutionized CF therapy for most patients. The progression of disease led her to receive enough oxygen with each breath, and daily activities like showering and walking have become challenging. Even after introducing the efficient medical therapies for CF, the inherited illnesses generate a new issue in individuals with unusual genetic differences. The development of a new strategy against CF in the future is based on complex gene-based therapies, which are expected to be the most effective solution for these patients. Her friends’ lives have dramatically improved with new CF treatments, but she remains left out.
University of Pennsylvania’s Dr. Kiran Musunuru found that companies prefer to come up with therapy for the most common patient populations in his explanation of gene editing. The market-driven approach led to what Musunuru calls mutational discrimination, leaving individuals with rare genetic mutations without treatment. To address this gap, Kramer-Golinkoff co-founded Emily’s Entourage, an organization that includes fundraising efforts that accelerate research and help to jump-start treatments for patients with CF mutations. Certain gene therapy programs were able to hit clinical testing milestones due to their organizational funding. The vigilant management of the disease has not been able to prevent her disease from progressively worsening. Kramer-Golinkoff developed CF-related diabetes and other complications of her health that forced her to live in isolation while residing with her parents in Greater Philadelphia during the COVID-19 pandemic.
Before travelling widely and maintaining a full professional career, she earned her master’s degree in bioethics from the University of Pennsylvania in the early stages of her illness. Because of her 30% lung capacity, she must deal with several medical conditions every day, such as kidney issues and pulmonary hypertension, in addition to her strict prescription requirements. Many patients with defective protein mutations have benefited greatly from CFTR modulator therapies.
By lowering respiratory issues and improving overall health outcomes, the new drugs have significantly improved lung function. Patients with the most common inherited mutations benefit from these treatments, but a significant portion of patients who require alternative methods are left behind.
Different racial and global populations have varying degrees of access to these scientific discoveries. Due to a lack of genetic testing capabilities, patients in developing countries remain undiagnosed with mutations. According to research, Black CF patients are disproportionately impacted by the absence of effective treatment because their mutations are either unknown or present in less common forms.
There is tremendous support for these treatment modalities, according to Dr. Garry Cutting of the Johns Hopkins Cystic Fibrosis Centre. According to the CF Foundation, 14 distinct experimental gene therapies are being studied at various stages of development. Regardless of the type of mutation, the goal of the medical treatments is to implant functional CFTR genes into lung tissue to restore cell functions.
Spirovant Sciences has launched a promising clinical trial at Columbia University with initial funding from Emily’s Entourage. Clinical trials started in November after the first patient received the therapeutic treatment.
References: Ungar L. Genetic medicine can leave people with rare mutations behind. But there’s new hope. AP News. April 26, 2025. https://apnews.com/article/gene-therapy-cystic-fibrosis-genetic-disease-156838bed586a5650f06d7bec4b2edae
