For Laura Ungar
Emily Kramer-Golinkoff does not get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things such as walking or showering are arduous and exhausting.
She has the most common fatal genetic disease in the United States, which affects 40,000 Americans. But its case is due to a rare genetic mutation, so medications that work for 90% of people with cystic fibrosis will not help it.
The same dynamic is repeated in other genetic conditions. The impressive advances in genetic science have revealed the subtle and insidious guilty behind these brutal diseases and have begun to pave the way for treatments. But patients with these extremely rare mutations have less poorer options and perspectives than those with more typical ways of these diseases, and many are now depositing their hopes in experimental gene therapies.
“We feel pure joy for our friends who have been rescued from this ship that sinks,” said Kramer-Golinkoff, 40. “But we feel anxious and desperate to join them. It is really difficult to be in this minority of people who are left behind.”
It is not only science that is against these patients, it is market forces. Pharmaceuticals naturally look for medications that focus on the most common mutations.
“You need a sufficiently large number of patients in an important market for a company to be interested in advancing,” said doctor Kiran Musunuru, an expert in genetic edition of the University of Pennsylvania. This means “mutational discrimination,” he adds.
Benefic organizations, including a nonprofit that Kramer-Golinkoff co-founded called Emily’s Entourage, are trying to overcome this barrier. Fund collection efforts have helped boost gene therapy that could help patients regardless of mutation.
Although it will probably not be available in years, Kramer-Golinkoff said: “The simple fact of having these therapies in trials provides much hope.”
Current treatments for genetic diseases do not help everyone
Kramer-Golinkoff had only six weeks of life when it was diagnosed with cystic fibrosis, which causes the accumulation of thick and sticky mucus in the body.
It occurs when the Cftr protein does not occur or does not occur correctly, allowing chloride to be trapped in cells, which means that the water cannot keep the surface of the cell hydrated. Moco accumulation can cause damage, blockages and infections in the lungs and affect other organs.
“As I aged … my cystic fibrosis has worsened, despite all my best efforts to delay it,” said Kramer-Golinkoff.
Before his illness worse so much, he was able to obtain a master’s degree in Bioethics at the University of Pennsylvania, work, travel and spend time with friends. But eventually developed diabetes related to cystic fibrosis and other complications. He is prone to infections and, since the pandemic, he has lived with his parents in isolation in the metropolitan area of Philadelphia.
“Cystic fibrosis is a true disease monster,” he said.
-Meanwhile, others with the condition have seen great improvements in their Health with “CFTR” therapies that work for people with the most common mutation, correcting defective protein. Research shows that pulmonary function, respiratory symptoms and the general quality of patients improve drastically.
In addition to not working for people with rare mutations, these treatments are not available for patients whose disease -causing mutations are not known or completely understood. Mutations can be unknown due to the lack of genetic evidence in places like developing nations, or little studied because they are unusual or difficult to detect.
Genetic test companies such as Engex have advanced in the detection of more people from various origins, but inequities persist.
For example, complete data on cystic fibrosis are scarce among African populations, and affects people who live in the continent, as well as those who trace their ancestry there. Research shows that black patients with cystic fibrosis are more likely than their white counterparts of being between 10% that do not benefit from modulating therapies.
Can gene therapy work regardless of the mutation?
Although there are little chances of changing market dynamics, researchers said a solution is to develop “agnostic” mutation “therapies that point to all patients with a disease. This approach is being tested in retinal diseases, as well as cystic fibrosis.
“There is a great boost to develop these therapies,” said Dr. Garry Cutting at the Johns Hopkins cystic fibrosis center.
The majority of the 14 experimental gene therapies in development for the disease aim to help patients with any mutation, says the foundation of cystic fibrosis, delivering a new correct version of the CFTR gene to the cells. Obtaining correct copies of the Cftr gene would allow cells to produce normal proteins regardless of what mutation causes a patient not to have enough, or not, functional CFTR proteins.
A treatment, partially financed by the Foundation, is sponsored by Spirovant Sciences, a company that Emily’s Inouge provided initial capital for its launch. The first patient received therapy in November in a 53 -week clinical trial at Columbia University that aims to determine if it is harmless and how long it remains in the lung.
Kramer-Golinkoff said he feels more optimistic about his future these days, even when his own disease worsens. At this time, he lives with a 30% lung function, suffers from kidney problems and has high blood pressure in the lungs. It depends on insulin for diabetes and takes numerous pills daily.
“You must make really aware decisions … throughout the day on how to use your limited energy. And that is really difficult to do when you have great dreams and important work and life to live,” he said.
“We are incredibly excited by the promise of gene therapies. They cannot arrive sufficiently.”
___ The Department of Health and Science of The Associated Press receives support from the Science and Educational Media Group of the Howard Hughes Medical Institute and the Robert Wood Johnson Foundation. The AP is solely responsible for all content. ___
This story was translated from English by an AP editor with the help of a generative artificial intelligence tool.
Originally Published: April 26, 2025 at 5:51 PM CDT
