Newborn Screening News and Research

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Combination therapy regimen for cystic fibrosis is also beneficial to primary school-aged children

Combination therapy regimen for cystic fibrosis is also beneficial to primary school-aged children

Study finds disparities in first evaluation of infants with cystic fibrosis from minoritized groups

Study finds disparities in first evaluation of infants with cystic fibrosis from minoritized groups

Early identification and treatment can reduce financial costs associated with spinal muscular atrophy

Early identification and treatment can reduce financial costs associated with spinal muscular atrophy

PerkinElmer expands genomic testing services with ultrarapid whole genome sequencing

PerkinElmer expands genomic testing services with ultrarapid whole genome sequencing

Blood adenosine levels positively correlate to the white matter lesions in very low birth weight premature infants

Blood adenosine levels positively correlate to the white matter lesions in very low birth weight premature infants

New Clinical Practice Resource released to guide the treatment of patients with hearing loss

New Clinical Practice Resource released to guide the treatment of patients with hearing loss

Low-cost test could open new avenues for earlier diagnosis, treatment of rare genetic disorders

Low-cost test could open new avenues for earlier diagnosis, treatment of rare genetic disorders

Multiplex proteomic panel assay for assessment of disease severity and outcome prediction in COVID-19

Multiplex proteomic panel assay for assessment of disease severity and outcome prediction in COVID-19

Trends in SARS-CoV-2 seroprevalence in Massachusetts

Trends in SARS-CoV-2 seroprevalence in Massachusetts

Parent Project Muscular Dystrophy successfully completes the Newborn Screening Pilot project

Parent Project Muscular Dystrophy successfully completes the Newborn Screening Pilot project

Nemours receives $10.5 million NIH grant to support research in sickle cell disease

Nemours receives $10.5 million NIH grant to support research in sickle cell disease

Researchers develop a machine learning-based screening tool for genetic syndromes in children

Researchers develop a machine learning-based screening tool for genetic syndromes in children

Molecular autopsy of dried blood spots can identify underlying cause of sudden cardiac death in a young person

Molecular autopsy of dried blood spots can identify underlying cause of sudden cardiac death in a young person

Newborn screening and early treatment for spinal muscular atrophy can save both lives and money

Newborn screening and early treatment for spinal muscular atrophy can save both lives and money

Untargeted metabolomics profiling can improve diagnosis of metabolic disorders in newborns

Untargeted metabolomics profiling can improve diagnosis of metabolic disorders in newborns

Biomarker discovery can open door to screening newborn babies for pyridoxine-dependent epilepsy

Biomarker discovery can open door to screening newborn babies for pyridoxine-dependent epilepsy

Mouse model provides new understanding about Folling Disease

Mouse model provides new understanding about Folling Disease

New ‘SINT1A‘ study explores potential of a probiotic to prevent type 1 diabetes in children

New ‘SINT1A‘ study explores potential of a probiotic to prevent type 1 diabetes in children

NMR Metabolomics as Novel Screening Tool for New-borns (For Research Only)

NMR Metabolomics as Novel Screening Tool for New-borns (For Research Only)

New technology precisely diagnoses sickle cell disease in a minute

New technology precisely diagnoses sickle cell disease in a minute