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"Diagnosing acutely ill babies is a race against the clock, so it's
essential for physicians to have access to solutions that will provide
answers faster and help set the course of treatment," said
There is great need for employing such technology in medicine. As many
as 15 percent of babies born in
Rapid diagnosis through genome sequencing can provide definitive answers, allowing physicians to provide timely, targeted treatment that can help prevent a needless diagnostic odyssey and improve medical outcomes. The rapidly falling cost of whole-genome sequencing increases the feasibility for clinical testing for rare genetic diseases. However, the amount and complexity of data continues to grow.
"In rare diseases, rapid diagnosis is made all the more challenging by
the significant amount of genomic and phenotypic data a clinician must
sift through to reach a diagnosis," said
Under the partnership,
About Rady Children's
The institute is leading the way in advancing precision healthcare for
infants and children through genomic and systems medicine research.
Discoveries at the Institute are enabling rapid diagnosis and targeted
treatment of critically ill newborns and pediatric patients at Rady
Children's Hospital-San Diego. The vision is to develop an integrated
process that can be expanded to deliver precision pediatric medicine at
children's hospitals in
About Rady Children's Hospital-San Diego
Children's Hospital-San Diego is a 551-bed pediatric care facility
providing the largest source of comprehensive pediatric medical services
Couce ML, Bana A, Boveda MD, Perez-Munuzuri A, Fernandez-Lorenzo JR,
Fraga JM. Inborn errors of metabolism in a neonatology unit: impact
and long-term results. Pediatrics international : official journal of
Japan Pediatric Society2011;53:13-7.
- Weiner J, Sharma J, Lantos J, Kilbride H. How infants die in the neonatal intensive care unit: trends from 1999 through 2008. Archives of pediatrics & adolescent medicine 2011;165:630-4.
- Wilkinson DJ, Fitzsimons JJ, Dargaville PA, et al. Death in the neonatal intensive care unit: changing patterns of end of life care over two decades. Archives of Disease in Childhood - Fetal and Neonatal Edition 2006;91:F268-F71.
Ray JG, Urquia ML, Berger H, Vermeulen MJ. Maternal and neonatal
separation and mortality associated with concurrent admissions to
intensive care units. CMAJ :
Canadian Medical Associationjournal 2012;184:E956-62.
- Yoon PW, Olney RS, Khoury MJ, Sappenfield WM, Chavez GF, Taylor D. Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study. Archives of pediatrics & adolescent medicine 1997;151:1096-103.
O'Malley M, Hutcheon RG. Genetic disorders and congenital
malformations in pediatric long-term care.
Journal of the American Medical Directors Association2007;8:332-4.
- Soneda A, Teruya H, Furuya N, et al. Proportion of malformations and genetic disorders among cases encountered at a high-care unit in a children's hospital. European journal of pediatrics 2012;171:301-5.
Hagen CM, Hansen TW. Deaths in a neonatal intensive care unit: a
10-year perspective. Pediatric critical care medicine : a journal of
Society of Critical Care Medicineand the World Federation of Pediatric Intensive and Critical Care Societies2004;5:463-8.
Berger TM, Hofer A. Causes and circumstances of neonatal deaths in 108
consecutive cases over a 10-year period at the
Children's Hospital of Lucerne, Switzerland. Neonatology 2009;95:157-63.
- Pinar H. Postmortem findings in term neonates. Seminars in neonatology : SN 2004;9:289-302.
NICU Summary. March of Dimes. (Accessed
July 20, 2016, at https://www.marchofdimes.org/peristats/pdfdocs/nicu_summary_final.pdf.)
Rady Children's Hospital-San Diego
Executive Director, Corporate Communications
Source: Rady Children's
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