About a month ago, I had the pleasure of welcoming the Juip (pronounced “Yipe”) family from Michigan to NIH. Although you’d never guess it from this photo, two of the Juip’s five children—9-year-old Claire and 11-year-old Jake (both to my left)—have a rare genetic disease called Friedreich’s ataxia (FA). This inherited condition causes progressive damage to their nervous systems and their hearts. No treatment currently exists for kids like Claire and Jake, yet this remarkable family has turned this serious health challenge into an opportunity to raise awareness about the need for biomedical research.
One thing that helps keep the Juips optimistic is the therapeutic potential of CRISPR/Cas9, an innovative gene editing system that may someday make it possible to correct the genetic mutations responsible for FA and many other conditions. So, I’m sure the Juips were among those encouraged by the recent news that NIH-funded researchers have developed a highly versatile approach to CRISPR/Cas9-based therapies. Instead of relying on viruses to carry the gene-editing system into cells, the new approach uses tiny particles of gold as the delivery system!
Caption: Charlotte Phillips during a visit to a Missouri Mennonite community. Credit: Richard Hillman
At 1 a.m., most people are fast asleep in their beds. But Charlotte Phillips sometimes finds herself up at that odd hour, waiting anxiously in a deserted Missouri parking lot far from her home. Phillips drives there to meet a contact for a very special delivery: a packet of cheek swabs and blood samples from a newborn Mennonite baby at risk of a life-threatening genetic condition called maple syrup urine disease (MSUD).
For more than two decades, Phillips, an NIH grantee at the University of Missouri, Columbia, has volunteered to ensure that the DNA in these swabs and samples is tested for MSUD within hours of a baby’s birth. If found to be positive for the condition, the baby can receive a needed special formula. Without it, the baby would suffer brain damage within days from its inability to break down amino acids in protein-rich foods, including breast milk and standard infant formula. Hurrying off at a moment’s notice isn’t always convenient, but Phillips, who is not Mennonite, feels a personal calling to do it. She wouldn’t want any babies to die.
Caption: Two-year-old Avalyn is among the cystic fibrosis patients who may be helped by targeted drugs. Credit: Brittany Mahoney
As NIH Director, I often hear stories of how people with serious diseases—from arthritis to Zika infection—are benefitting from the transformational power of NIH’s investments in basic science. Today, I’d like to share one such advance that I find particularly exciting: news that a combination of three molecularly targeted drugs may finally make it possible to treat the vast majority of patients with cystic fibrosis (CF), our nation’s most common genetic disease.
First, a bit of history! The first genetic mutation that causes CF was discovered by a collaborative effort between my own research lab at the University of Michigan, Ann Arbor, and colleagues at the Hospital for Sick Children in Toronto—more than 25 years ago . Years of hard work, supported by the National Institutes of Health and the Cystic Fibrosis Foundation, painstakingly worked out the normal function of the protein that is altered in CF, called the cystic fibrosis transmembrane regulator (CFTR). Very recently new technologies, such as cryo-EM, have given researchers the ability to map the exact structure of the protein involved in CF.
Among the tens of thousands of CF patients who stand to benefit from the next generation of targeted drugs is little Avalyn Mahoney of Cardiff by the Sea, CA. Just a few decades ago, a kid like Avalyn—who just turned 2 last month—probably wouldn’t have made it beyond her teens. But today the outlook is far brighter for her and so many others, thanks to recent advances that build upon NIH-supported basic research.