Therapies for rare diseases: therapeutic modalities, progress and challenges ahead
E Tambuyzer, B Vandendriessche, CP Austin… - Nature Reviews Drug …, 2020 - nature.com
Most rare diseases still lack approved treatments despite major advances in research
providing the tools to understand their molecular basis, as well as legislation providing …
providing the tools to understand their molecular basis, as well as legislation providing …
[PDF][PDF] A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
SF Kingsmore, LD Smith, CM Kunard… - The American Journal of …, 2022 - cell.com
Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders
by treatment before symptom onset. In many genetic diseases, however, outcomes remain …
by treatment before symptom onset. In many genetic diseases, however, outcomes remain …
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American …
K Manickam, MR McClain, LA Demmer, S Biswas… - Genetics in …, 2021 - nature.com
Purpose To develop an evidence-based clinical practice guideline for the use of exome and
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …
[PDF][PDF] GA4GH: International policies and standards for data sharing across genomic research and healthcare
Summary The Global Alliance for Genomics and Health (GA4GH) aims to accelerate
biomedical advances by enabling the responsible sharing of clinical and genomic data …
biomedical advances by enabling the responsible sharing of clinical and genomic data …
[PDF][PDF] Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of …
D Dimmock, S Caylor, B Waldman, W Benson… - The American Journal of …, 2021 - cell.com
Genetic disorders are a leading contributor to mortality in neonatal and pediatric intensive
care units (ICUs). Rapid whole-genome sequencing (rWGS)-based rapid precision medicine …
care units (ICUs). Rapid whole-genome sequencing (rWGS)-based rapid precision medicine …
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …
Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease: a randomized clinical trial
ID Krantz, L Medne, JM Weatherly, KT Wild… - JAMA …, 2021 - jamanetwork.com
Importance Whole-genome sequencing (WGS) shows promise as a first-line genetic test for
acutely ill infants, but widespread adoption and implementation requires evidence of an …
acutely ill infants, but widespread adoption and implementation requires evidence of an …
The role of exome sequencing in newborn screening for inborn errors of metabolism
AN Adhikari, RC Gallagher, Y Wang, RJ Currier… - Nature medicine, 2020 - nature.com
Public health newborn screening (NBS) programs provide population-scale ascertainment
of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry …
of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry …
Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system
Importance Widespread adoption of rapid genomic testing in pediatric critical care requires
robust clinical and laboratory pathways that provide equitable and consistent service across …
robust clinical and laboratory pathways that provide equitable and consistent service across …
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
MJ Owen, S Lefebvre, C Hansen, CM Kunard… - Nature …, 2022 - nature.com
While many genetic diseases have effective treatments, they frequently progress rapidly to
severe morbidity or mortality if those treatments are not implemented immediately. Since …
severe morbidity or mortality if those treatments are not implemented immediately. Since …