Children’s Hospital Orange County is collaborating with Rady Children’s Hospital San Diego to further improve molecular diagnosis of rare and common complex genetic diseases in children.
The Rady Children’s Institute for Genomic Medicine will provide rapid whole genome sequencing—of parents or affected siblings to expedite identification of disease genes—and bio informatics analysis to critically ill infants in neonatal and pediatric intensive care units enrolled in the research.
CHOC will send biological sample materials to Rady Children’s clinical genome center in San Diego, and the results will be reported to physicians at CHOC.
CHOC Chief Executive Kimberly Cripe said the hospital’s collaboration with Rady Children’s “is expected to save lives by decreasing the time between an acute diagnosis and the implementation of effective treatment for difficult cases in our neonatal and pediatric intensive care units.” CHOC will be focusing on genetic diseases that are “life threatening related to their effect on major organ system function”—including brain malformation, severe acidosis, hypoglycemia, heart failure and kidney failure—according to Dr. Nick Anas, medical director of its pediatric intensive care unit.
Rady Children’s Institute for Genomic Medicine has performed the sequencing in over 100 families with acutely ill children enrolled in its research studies, approximately 40% receiving a genomic diagnosis. “Based on the diagnosis, doctors were able to change the course of treatment for two-thirds of those children, in some cases saving lives,” said Chief Executive Stephen Kingsmore. “In the absence of rapid whole genome sequencing, some of these children and their parents would have waited months or years for a diagnosis.”
A Rady Children’s spokesperson said, “Scientific research worldwide has yielded identification of some 8,000 genetic diseases so far. The work that Rady Children’s and CHOC will do will potentially increase this number.”
Rady Children’s, a nonprofit 551-bed hospital, is the only hospital in the San Diego area to be designated a pediatric trauma center.
CHOC has 279 beds. It ranks No. 4, with $544 million in revenue last year, according to the Business Journal’s 2017 list of the biggest hospitals here.
Dual Treatment
Glaukos Corp. announced positive data from a 53-patient glaucoma study that combines its iStent device and travoprost eye drop. It said intraocular pressure decreased 35% after 18 months of follow-up. All study participants had open-angle glaucoma.
Glaukos Chief Executive Thomas Burns said the study “helps to illustrate the advantages of harnessing both the conventional and unconventional outflow pathways in order to effectively manage [intraocular pressure] in glaucoma patients.”
The San Clemente-based ophthalmic device company received Food and Drug Administration approval in 2012 for iStent—an implant designed to lessen intraocular pressure in glaucoma patients by draining excessive fluids, as the disease often clogs the eye’s drainage system. Proper drainage helps keep eye pressure at a normal level; an increase in eye pressure can lead to optic nerve damage and blindness. The company has a market cap of about $1.56 billion.
Glaukos said there were no device-related adverse events reported through the 18 months. The study was published in medical journal Clinical & Experimental Ophthalmology.
Dr. John Berdahl, lead author of the study, said the results demonstrated the viability of using iStent with an eye drop. He noted that iStent has been shown to “lower [intraocular pressure] without any benefit from topical medications, [which] is important because we know that glaucoma patients don’t often adhere to topical medication treatment.”
Glaukos said it’s evaluating a travoprost intraocular implant—the device will continuously release the drug for an extended length of time—in a phase two drug trial.
BIO 2017
The world’s biggest annual gathering of the biotechnology industry took its 2017 BIO International Convention to San Diego. The weeklong event was held last month at the San Diego Convention Center, where issues discussed included gene editing technology, next-generation biotherapeutics, and the future of medical research.
The keynote speaker was former British Prime Minister David Cameron.
Over 1,300 companies attended, including contract manufacturer Avid Bioservices Inc. in Tustin.
Bits & Pieces
Newport Beach-based long-term care insurance brokerage firm Broadtower Insurance Solutions teamed with GWG Life, a subsidiary of GWG Holdings Inc. in Minneapolis, Minn., to launch an outreach program on GWG Life’s LifeCare Xchange, which is designed to help elderly people plan for the cost of long-term care. … Alamitos West Health Care Center received a bronze award from the American Health Care Association and National Center for Assisted Living for its long-term and post-acute care. The 150-bed skilled nursing facility offers rehabilitation, skilled nursing, long-term and short-term stays to seniors. … Cianna Medical Inc. in Aliso Viejo received the 2017 Gold Annual Medical Design Excellence Award recognizing its Scout Radar breast localization system, a reflector device designed to provide more precise localization of tumors and reduce the amount of tissue that’s removed.
