PRECISION MEDICINE , FETAL CARE , PULMONOLOGY
A Whole New Level
What if medicine could not only diagnose a genetic mutation in utero , but intervene ?
With ever more advanced genetic testing tools available , it ’ s possible to diagnose an array of genetic conditions , even very rare ones , before a child is born . “ But we can ’ t do much about it ,” says fetal surgeon and maternal fetal medicine specialist Michael Zaretsky , MD . “ We know a genetic condition like cystic fibrosis will lead to pancreatic disease , intestinal complications , airway malformation . Our concept is to treat the disease before those manifestations occur .”
In the last decade , pediatric pulmonologist Scott Sagel , MD , has seen incredible strides in his area of expertise . The development of rescue therapy for CFTR , the protein individuals with cystic fibrosis lack the ability to produce , was a game-changer .
As a clinical investigator in Children ’ s Hospital Colorado ’ s Breathing Institute , the largest cystic fibrosis research center in the U . S ., Dr . Sagel has been involved in clinical trials aimed at applying CFTR protein rescue therapies to a wider variety of mutations in increasingly younger children . That ’ s key , because the damage caused by the disease process begins early and is often irreversible . The earlier it ’ s treated , the more damage it ’ s possible to prevent .
“ We think a gene-based therapy will be the next major breakthrough ,” he says .
And cystic fibrosis makes a good candidate for gene-based therapy . When Dr . Zaretsky first got interested in applying CRISPR gene editing to prenatally diagnosed genetic conditions three years ago , he developed a few criteria : It had to be a single-gene mutation with in utero manifestations that shortens the lifespan , causes significant morbidity and , importantly , attracts funding . Cystic fibrosis was the clear winner .
4 | CHILDREN ’ S HOSPITAL COLORADO