Researchers and drug firms do not focus on widespread disease because they do not care about children who suffer from rare diseases, as implied by Dr. Chung’s “too rare to care” catchphrase quoted below. Instead, Dr. Liu hits closer to the mark when he suggests that “developing treatments for rare diseases is just not economically feasible.” We do care, so that there are benefits to curing rare diseases. The problem is that the high costs swamp the benefits. And the costs are so high, as I have often argued in blog entries, because of the high expense of FDA mandated randomized double-blind controlled trials (RCTs). Cheaper alternative sources of knowledge exist (like well-done observational studies).
Other issues are worth noting in the article quoted below. One is that a “sense of urgency” matters. Annabel Frosts’ parents have it, and apparently Dr. Chung has it too. Those with a sense of urgency push forward in the face of perverse incentives and discouraging constraints. Note as well that Annabel’s parents have worked hard to raise funds and thought deeply about how to best spend those funds, specifically supporting development of the basic science that they believe will enable creation of a cure.
Note also the sources of funding for those fighting the rare diseases. One source is the self-funded money raised by Annabel’s parents. Dr. Liu is funded by the Broad Institute and the Howard Hughes Medical Institute, private medical non-profits founded by entrepreneurs. The effort is also funded partly by the federal government’s Advanced Research Projects Agency for Health, which is intended to imitate the structure and success of the federal government’s Defense Advanced Research Projects Agency (DARPA).
Considerable evidence suggests that government agencies are prone to stagnation, inefficiency, and corruption. For instance grants and promotions are often based more on who is a crony than who has merit. Many decisions are made by committee, which tends to reinforce the status quo. DARPA is argued to be an outlier, though some of the arguments are not sound. In my book, Openness to Creative Destruction, for instance, I argue against the common claim that DARPA should receive credit for developing the internet (Diamond 2019, 162-163). Where DARPA has had some success is from hiring term-limited mission-oriented leaders who have have achieved distinction outside of government. They also have mainly pushed technologies that are already well-along in development.
(p. D1) Without fail, David Liu of the Broad Institute gets at least 20 messages every week from desperate parents. Their child, they’ll explain, has an ultrarare and devastating disorder caused by a mutant gene. Can he help them develop a gene therapy?
Dr. Liu, a gene-editing researcher, answers honestly: Although the science is there — researchers can edit and silence the genes that cause disease relatively easily — the system for developing treatments for rare diseases is just not economically feasible. It typically takes years and hundreds of millions of dollars.
The catchphrase, said Dr. Wendy Chung of Boston Children’s Hospital, is “too rare to care.”
Now, Dr. Liu, Dr. Chung and their colleagues at the Broad Institute, Boston Children’s and the Jackson Laboratory are hoping to change that mentality. On Tuesday, they announced the start of a new nonprofit, the Center for Therapeutic Genetics, to develop gene therapy treatments that can be used and reused in disease after disease.
Treatments developed by the center would be viewed more like routine procedures than drugs. In each case, all that would be changed are the instructions to a (p. D5) gene editor. There would be no need to start anew for every patient.
In principle, with more centers like this one, the new approach could improve the lives of millions of people, said Dr. Liu, who is also affiliated with Harvard University and Howard Hughes Medical Institute. About 400 million people worldwide and 25 to 30 million in the United States have a rare disease. Half are children, and a third die before they turn 5.
The project is starting with a $34.5 million contract from the Advanced Research Projects Agency for Health, a federal agency that supports high-risk, high-reward medical research.
. . .
. . . alternating hemiplegia of childhood, or AHC, affects just 400 children in the United States. Among them is 10-year-old Annabel Frost. Her parents, Simon Frost and Nina English Frost, who live in Washington, have made getting gene therapy for children with AHC the center of their lives.
. . .
After they finally received a diagnosis of AHC and learned there was no cure, the Frosts formed a nonprofit and began raising money; they have raised more than $4 million in the past eight years. But expecting families to follow that path — doing fund-raising, organizing golf tournaments, sponsoring 5K races — “is very unfair,” said Dr. Chung, especially when parents are caring for a sick child. And it is still almost never enough to get a company interested in developing a treatment.
Ms. Frost said she and Mr. Frost knew that. So their foundation deliberately supported research that laid the groundwork for a gene therapy for AHC. Then they approached Dr. Liu. “We did not simply bring David a disease and ask him to solve it,” Ms. Frost said. “We brought him a developed scientific opportunity.”
Dr. Liu’s group had extended the life of mice with Niemann-Pick, a genetic brain disease, which gave them hope. For AHC, Ms. Frost said, “we wanted him to target the same cells.”
. . .
It will be hard at first, Dr. Chung predicted. But she feels a sense of urgency.
“My patients don’t have time to wait,” she said. “We will lose a generation.”
For the full story, see:
(Note: ellipses added.)
(Note: the online version of the article has the date July 21, 2026, and has the title “‘Too Rare to Care’? A New Center for Rare Diseases Hopes to Change That.”)
My book, that I mention above, is:
Diamond, Arthur M., Jr. 2019. Openness to Creative Destruction: Sustaining Innovative Dynamism. Oxford University Press.