Children's Hospital of Philadelphia on Friday announced that the founding family of Comcast Corp. has given $25 million toward a new $50 million initiative designed to put CHOP at the forefront of pediatric genetics research and development.
The Roberts Collaborative for Genetics and Individualized Medicine will unite and accelerate the cutting-edge research already going on at CHOP in fields including inherited disorders, mitochondrial disease, cancer, and autism.
Through the collaboration, the hospital will expand genomic testing, using the latest sequencing and computing techniques to search a patient's DNA code for variations that affect health or response to therapies.
The collaboration is also creating a genomic data repository, a family support and counseling center, and a program to train medical students and residents in personalized pediatric care. A symposium featuring talks by key researchers was to be held Friday morning at the hospital's campus on Civic Center Boulevard in West Philadelphia.
"I think we're actually in the midst of a revolution in medicine. When we look back, this will be known as the genomic period," said Ian Krantz, a pediatrician and clinical geneticist who will direct the new family counseling center. "What's needed is careful, thoughtful applications of the technology. That can only be done in big academic medical centers. Now CHOP will be at the forefront."
Aileen Roberts, wife of Comcast chief executive Brian Roberts, said the six years she spent on CHOP's board of directors, ending in 2010, gave her insights that set the stage for the latest gift. It comes jointly from the couple, Suzanne F. Roberts, Catherine and Anthony Clifton, and Lisa S. Roberts and David Seltzer.
"From a family perspective, helping children resonates with all of us," she said. "We really feel it is a transformative gift, and we're humbled to be part of this."
Aileen Roberts, who is a breast cancer survivor, and her husband previously donated $15 million toward the University of Pennsylvania's proton therapy center. She also was instrumental in bringing the Barnes Foundation's art museum to Philadelphia.
The new collaborative comes at a pivotal time.
The study of genetics — how characteristics are transmitted from one generation to the next — goes back hundreds of years, and involves analysis of genes or parts of genes that have a known function. Genetic testing before or at birth is now used to screen for Down's syndrome, cystic fibrosis, and other disorders.
The much newer study of genomics, in contrast, involves searching all or major parts of the patient's entire genetic code, called the genome. With recent advances in DNA sequencing technology, CHOP scientists can now sequence the genome's three billion chemical "letters" of DNA, spread across 23,000 genes, for about $20,000. The exome — the one percent of letters that are translated into proteins — can be analyzed for about $2,500.
"And we expect those costs will come down," said Bryan Wolf, CHOP's executive vice president and chief scientific officer.
Elizamir and Jay Delatorre of Cherry Hill learned firsthand about the power — and limitations — of the emerging approaches to diagnosis and treatment.
Three years ago, they took their daughter Emily, then 9, to CHOP in a desperate search for an explanation for her strange hearing loss. It had begun at age 6 and was worsening despite hearing aids, but doctors had been unable to find any physical cause.
"The specialist at CHOP told us that the nerves to her brain were not processing words properly," Elizamir Delatorre recalled. "After many tests, they did a genetic test but found nothing unusual."
Krantz recalled, "Two hundred genes can cause hearing loss. We looked at a panel of 10 genes. But we came up blank."
Last year, at age 11, Emily returned to CHOP with vision and balance problems as well as the deafness. She and her parents underwent exome sequencing that revealed she had inherited a genetic mutation that causes a rare, progressive, potentially life-threatening neurological disorder called riboflavin transporter deficiency.
But that discovery also opened the door to a therapy: high-dose riboflavin, or Vitamin B2. After exome analysis showed her healthy 4-year old brother, Eric, also had the mutation, he was put on the same therapy.
"When Dr. Krantz gave us the answer, it was overwhelming," Elizamir Delatorre said. "But the riboflavin is our hope. Yesterday, we were at CHOP and Emily did well with two speech-pathology tests. She's like, 'Mom, I'm ready for this.' We're still monitoring her and we're taking it one day at a time. Baby steps."