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Dec 2, 2024 | 
healio.com | Sara Kellner |Wendy Chung |Carol L. DiBerardino
You've successfully added Neonatal Medicine to your alerts. You will receive an email when new content is published. Click Here to Manage Email Alerts We were unable to process your request. Please try again later. If you continue to have this issue please contact [email protected]. Key takeaways: Genome sequencing detected treatable conditions in more than 3% of newborns. Traditional newborn screening missed some conditions that genetic testing found.
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Nov 20, 2024 | 
nature.com | Fangyi Chen |Wendy Chung |Casey TA |Kai Wang |Chunhua Weng
AbstractPatients with rare diseases often experience prolonged diagnostic delays. Ordering appropriate genetic tests is crucial yet challenging, especially for general pediatricians without genetic expertise.
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Sep 26, 2024 | 00334-3&sz=64)
cell.com | Wendy Chung
1Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA 2Department of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA 3Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA 4Department of Surgery, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA 5Department of Anesthesiology, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA...
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May 13, 2024 | 
healthday.com | Wendy Chung
Bringing a newborn into the world is a whirlwind of emotions, from overwhelming joy to a hint of worry about your little one’s health. As a new or expecting parent, you want to ensure that your baby receives the best start in life. One crucial step in safeguarding your baby’s well-being is newborn screening. What is newborn screening?
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Apr 26, 2024 | 
nature.com | Emily E. Lubin |Annabel K. Sangree |Rajesh Angireddy |Roberto Mendoza-Londono |Lucie Dupuis |Irene Valenzuela | +23 more
AbstractBryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1–4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5].
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Apr 16, 2024 | 
statnews.com | Wendy Chung
The face of autism was once predominantly white. No longer. The Centers for Disease Control and Prevention reported last year that the prevalence of autism across all racial and ethnic groups is reaching parity. Among 8-year-olds in particular, autism was more commonly identified among Black, Hispanic and Asian American/Pacific Islander children than among their white counterparts for the first time ever.
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Nov 17, 2023 | 
york.ie | Wendy Chung
A strong understanding of contracts is often overlooked, but it is key to successfully growing your company. While contracts seem to lie in the murky landscape of legalese, ideally a strong partnership between your legal team and your business folks can facilitate sales, expedite accounts receivables, increase cash flow to the business and reduce disputes and risks, thus driving growth to your business faster. I’ve been doing commercial contracting deals for over two decades.
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Jun 26, 2023 | 
nature.com | Thomas Rolland |Freddy Cliquet |Clara A. Moreau |Guillaume Huguet |Varun Warrier |Elise Douard | +7 more
Ethical approvalInformed consents from all individuals were obtained according to following ethics clearances. The SSC is a multisite effort gathering 12 recruitment sites and informed consents were obtained from all participants included in each site at the time of their initial enrollment and centralized by the Columbia University Institutional Review Board (IRB) under the protocol AAAC6306(M00Y17). All SPARK participants were recruited under a centralized IRB protocol (WCG IRB protocol no.
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Mar 21, 2023 | 00845-6/abstract&sz=64)
gimjournal.org | Sandra Lee |Wendy Chung |Josephine Johnston |Mikaella Caruncho
Advances in the study of ultra-rare genetic conditions are leading to the development of targeted interventions developed for single or very small numbers of patients. Due to the experimental but also highly individualized nature of these interventions, they are difficult to classify cleanly as either research or clinical care.
