SHORT ANSWER
A
Collaboration Is Key
The Cords That Bind
CARDIOLOGY
As one of just eight centers in the country participating in Mayo Clinic’ s Hypoplastic Left Heart Consortium, Children’ s Hospital Colorado allows pregnant women with a prenatal diagnosis to participate in groundbreaking clinical trials studying stem cell therapy via the collection of umbilical cord blood at birth. With 18 patients enrolled, 5 babies had stem cells
Openhearted
CARDIOLOGY injected during their second HLHS surgery.
The consortium’ s multifaceted research approach includes imaging and outcomes, human genetics and regenerative medicine, plus a collaboration that facilitates ideation and cross-pollination between researchers from all over the country, decreasing the time from research and discovery to clinical application. Best of all, the multi-site design allows families from all over the country to participate, no matter where they live.•
Each year, medical professionals diagnose about 42,000 babies in the United States with a congenital heart defect. Yet despite the prevalence of the diagnosis, information on quality of care and surgical outcomes is scarce and confusing to interpret.
Together with Children’ s Hospital of Wisconsin and Mott Children’ s Hospital, Children’ s Hospital Colorado is working with the Pediatric Congenital Heart Association on a website for program-specific pediatric and congenital cardiology data that adhere to uniform tenets like standardized variables and substantiated data.
The goal is not to rank or compare hospitals but to drive conversations between stakeholders. Honest reporting and dialogue are key to improving outcomes, says Jim Jaggers, MD, cardiothoracic surgeon and Medical Director of the Heart Institute at Children’ s Colorado.“ When hospitals see other facilities with better outcomes,” he says,“ it can help them improve their own.” •
Boston Children’ s Hospital
FDA Approves First Drug for 1 Person
NEUROLOGY
9-year-old Mila had perplexing symptoms. Her parents took her to over 100 doctors across the U. S. before they arrived at
Children’ s Hospital Colorado. Genetics specialist Austin Larson, MD, uncovered one of two rare mutations in Mila and diagnosed her with a type of Batten disease only 25 people in the world are known to have.
The location of Mila’ s second mutation was a mystery until Timothy Yu, MD, PhD, an attending physician and researcher at Boston Children’ s Hospital, found it hiding in noncoding DNA. With that, he developed a drug solely for Mila to fix her fragmented sequence. It’ s the first time the FDA has approved a drug for just one person— remarkable progress for precision medicine.
“ The drug acts as a molecular patch, allowing the gene to be spliced back together in the proper way,” Dr. Yu tells WBUR, Boston’ s public radio station.
Mila’ s treatments were initially in Boston, but a growing collaboration between Dr. Yu and Children’ s Colorado genetic epilepsy specialist Scott Demarest, MD, is now allowing Mila to receive this incredible treatment closer to home.“ The fact that Milasen is even possible tells us we have something to aim for and that there’ s a route we can take to make it accessible to more people,” says Dr. Demarest. Using a new machine called Novaseq, Children’ s Colorado plans to commence its whole-genome sequencing program later this year. •
8 | CHILDREN’ S HOSPITAL COLORADO