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New Disorder of Copper Metabolism Identified, Caused by Variants in CTR1 Gene
Copper is essential for many cellular functions, including cellular respiration, antioxidant defense, neurotransmitter biosynthesis and neuropeptide amidation, among others. Until recently, only two inborn errors of copper metabolism were well established. Both are rare. Wilson's disease and Menkes disease result from mutations in the copper-transporting P-type ATPases; ATP7B and ATP7A, respectively.
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Nationwide Children’s Hospital Named PCD Foundation Clinical Center
Nationwide Children’s Hospital has been named a PCD Foundation Clinical Center. The hospital is one of only two pediatric centers in Ohio with this designation. With this official accreditation, Nationwide Children’s joins a select group of North American centers with demonstrated expertise in diagnosis and care of primary ciliary dyskinesia (PCD).
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Early Phase Gene Therapy Study for SMARD1/CMT2S Disease Now Enrolling
Nationwide Children's Hospital has launched a new Phase I/IIa gene replacement clinical study to evaluate the safety of a gene therapy for IGHMBP2-related diseases, specifically spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot Marie Tooth disease type 2S (CMT2S). SMARD1 and CMT2S are rare inherited conditions that are both caused by mutations in the IGHMBP2 gene, of which more than 60 have been found to date. SMARD1 is the most severe form of these diseases and causes muscle weakness and respiratory failure in infancy.
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Nationwide Children’s Hospital Opens New Close To Home Center in Athens
Beginning today, Nationwide Children’s Hospital will provide specialized pediatric outpatient care for the Athens community and surrounding areas at a new Close To HomeSM center. The new center that is located in OhioHealth’s O’Bleness medical office building at 26 Hospital Drive in Athens will offer convenient access to care under one roof.
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Behavioral Health Research, Genomics Programs Highlight $10 Million Nationwide Foundation Donation to Nationwide Children’s Hospital
Behavioral health research and genomics are among several programs at Nationwide Children’s Hospital that will continue to benefit from funding as part of a new $10 million gift that the Nationwide Foundation is making through their Pediatric Innovation Fund.
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Nationwide Children’s Hospital and the City of Columbus Bringing Comprehensive Injury-Prevention Program to Central Ohio Children
Nationwide Children’s Hospital and the City of Columbus are hosting the Safety City Columbus injury-prevention program for the third straight summer. Safety City Columbus is a free, four-day program for children ages 5 to 7 to learn more about traffic lights and safety, fire prevention safety, stranger awareness, police officers and more.
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Nationwide Children’s Hospital and the City of Columbus Bringing Comprehensive Injury-Prevention Program to Central Ohio Children
(COLUMBUS, Ohio) – Nationwide Children’s Hospital and the City of Columbus are hosting the Safety City Columbus injury-prevention program for the second straight summer. The program returned in 2022 after a more than 30-year hiatus within the city’s limits.
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New Study Finds Increase in Exposures to Synthetic Tetrahydrocannabinols Among Young Children, Teens, and Adults
A sharp rise in exposures to synthetic cannabis products among youth — some leading to hospitalization — highlights the need for increased education around the dangers of exposure and increased focus on safe storage and packaging, according to pediatricians and researchers at Nationwide Children’s Hospital and the Central Ohio Poison Center.
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HD Videoconferencing Links Critical Care Newborns from Rural Hospitals to Tertiary Care Facilities, Specialists
Without ever leaving the nursery, fragile babies born at Chillicothes Adena Regional Medical Center are receiving clinical assessments from specialists an hour away at Nationwide Childrens Hospital thanks to high-definition videoconferencing capabilities made possible via the Ohio Supercomputer