The Philadelphia Inquirer from Philadelphia, Pennsylvania • Page B05

FRIDAY, SEPT. 25, 2016 THE PHILADELPHIA INQUIRER B5 CHOP PHILLY.COM SOUTH JERSEY i 1 When Dr. Krantz gave us the answer, it was overwhelming. 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 Elizamir Delatorre Continued from Bl 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, said the six years she spent on CHOP'S board of directors, ending in 2010, gave her insights that set the stage for the 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, 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 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 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 se- E3 mmcculloughphillynews.com 215-854-2720 (ffirepopter Genomic testing has shown promise for Emily Delatorre, 12, and Eric, 4, shown with father Jay at Universal Studios Florida. When she began showing symptoms in 2013, tests found an inherited genetic mutation. That led to a treatment for the siblings, courtesy Delatorre family Meeting Notices 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 We're still monitoring her and we're taking it one day at a time. Baby I V. quencing 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 1 percent of letters that are translated into proteins can 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 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 PUBLIC NOTICE The Gloucester Township Board of Education schedule of meetings for the month of October is as follows: Monday, October 17, 2016 Workshop Session 7:00 P.M.

Workshop Session of the Board. The above meeting will be held at the Administration Building, 17 Erial Road, Blackwood, N.J. Monday, October 24, 201 6 Regular Session 7:00 P.M. Regular Session Meeting. The above meeting will be held at the Glen Landing Middle School, 85 Little Gloucester Road, Blackwood, N.J.

Kathleen Forsythe Secretary to the Board September 21. 2016 Bryan Wolf is a CHOP vice president, chief scientific officer. be analyzed for about $2,500. "And we expect those costs will come down," said Bryan Wolf, CHOP'S executive vice president daughter Emily, then 9, to CHOP in a search for an explanation for her strange hearing loss. It had begun at age 6 and was Graduate Education Online On-Campus Soft Touch Home Solution! Benefits of Soft wash Cleaning Compared to High Pressure Washing More effective: 100 kill rate on stain-inducing microorganisms No risk of damage to property, surface materials, windows or surrounding vegetation due to low pressure process The chemical formulation is always customized based on the specific property type, building materials, and property surroundings, resulting in more effective and efficient results Chemicals are 100 biedegradable and environmentally-friendly.

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