N-OF-1

CRISPR shows promise for personalized treatments

Children’s Hospital of Philadelphia

In the 50-year quest to read and repair the code of life, scientists think they have a breakthrough on their hands: splicing the genome of a severely ill child and rewriting the unique misspelling in his DNA.

KJ was diagnosed days after birth with an ultra-rare disease that impairs his liver’s ability to process ammonia, which can cause permanent brain damage or death. STAT’s Jason Mast details the frantic months that followed as researchers developed a KJ-specific genetic surgery that likely saved his life — the first time CRISPR has been successfully calibrated to fix a single patient’s unique genetic typo.

The results, published in the New England Journal of Medicine on Thursday, may offer hope of treatment for thousands of patients with deadly or disabling mutations that are unique or too rare to interest traditional for-profit drug developers.

But — and there’s absolutely a “but” here — no one will say how much this mad dash to treat KJ cost. Jason, himself, dived into the bleak financial realities facing many genome editing companies in February. The treatment’s success will likely ignite long-simmering questions about how to safely and equitably scale personalized treatments. For now, read Jason’s excellent story. 

theranos

Stop me if you’ve heard this one before

Elizabeth Holmes’ partner, Billy Evans, has founded a company touting a diagnostic blood-testing device similar to Theranos’ fraudulent device. While Holmes has no legal affiliation with the company, her fingerprints and pricks are all over it, writes Tyler Shultz, a scientist and the whistleblower who exposed fraud at Holmes’ now-folded company.

Holmes is serving an 11-year sentence for defrauding investors and has been banned from participating in federal health programs. But she’s too crafty for that to be the end of her narrative. “When she leaves prison, there’s no doubt she’ll manage to appear remorseful without admitting guilt. And if she’s credited with launching a company from a prison cell? That’s more legendary than the Hewlett-Packard garage or Mark Zuckerberg’s dorm room.” 

Will the technology work? Read Shultz’ take to find out.  

ADVOCACY

Chronic fatigue patients fight back

Patients with ME/CFS — myalgic encephalomyelitis/chronic fatigue syndrome — know the depths of medical neglect. It is a disease without FDA-approved therapies, and with historically little federal investment in research. “It's kind of like you're just on your own to figure it out,” said Elizabeth Ansell, who founded the group #NotJustFatigue and has been bedbound for 9 years. Still, ME/CFS groups like Ansell’s are fighting back against Trump administration cuts, which eliminated one of the few remaining research centers for the condition at Columbia University. 

The groups have written a letter to Kennedy protesting the funding cuts, met with congressional offices, and on Thursday issued a report on the economic impacts of ME/CFS. One hundred people with confirmed ME/CFS diagnoses were surveyed. A few key stats:

• 94% of people surveyed had reduced income as a result of their disease, with 42% earning less than half of what they made before getting sick. 
• 22% of patients surveyed permanently left the workforce, and over half worked reduced hours. (A hallmark of ME/CFS is worsened symptoms after exertion.)
• 30% of people surveyed relied on disability benefits as their primary income.
• 16% of respondents were denied disability benefits, and 37% of those who applied for benefits reported not being taken seriously by evaluators. 

— Isabella Cueto