Newborn Screening News and Research

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Small clinical trial shows promise for treating rare neurodegenerative disease

Small clinical trial shows promise for treating rare neurodegenerative disease

PerkinElmer introduces affordable clinical genomics services

PerkinElmer introduces affordable clinical genomics services

Newly identified biomarkers could lead to better therapies for cystic fibrosis

Newly identified biomarkers could lead to better therapies for cystic fibrosis

Age-related macular degeneration could be arrested by switching to low-glycemic diet, study finds

Age-related macular degeneration could be arrested by switching to low-glycemic diet, study finds

New research reveals link between sickle cell trait and increased risk of developing kidney failure

New research reveals link between sickle cell trait and increased risk of developing kidney failure

FDA grants permission to market new Seeker System for screening rare metabolic disorders in newborns

FDA grants permission to market new Seeker System for screening rare metabolic disorders in newborns

Experts update cystic fibrosis guidelines for better diagnosis and personalized treatment

Experts update cystic fibrosis guidelines for better diagnosis and personalized treatment

Scientists decode genetic profile of rare inherited disorder that can cause genital ambiguity

Scientists decode genetic profile of rare inherited disorder that can cause genital ambiguity

IQWiG assesses benefit of newborn screening for severe combined immunodeficiency

IQWiG assesses benefit of newborn screening for severe combined immunodeficiency

New gene therapy for Pompe disease may replace currently available treatments

New gene therapy for Pompe disease may replace currently available treatments

Researchers explore ins and outs of genome sequencing in newborns

Researchers explore ins and outs of genome sequencing in newborns

Newborns with low levels of vitamin D may more likely develop multiple sclerosis in later life

Newborns with low levels of vitamin D may more likely develop multiple sclerosis in later life

Congenital CMV infection highly common among children with cerebral palsy, study finds

Congenital CMV infection highly common among children with cerebral palsy, study finds

Benefit and harm of tandem mass spectrometry screening for tyrosinaemia type 1 remain unclear

Benefit and harm of tandem mass spectrometry screening for tyrosinaemia type 1 remain unclear

First investigational treatment for infantile-onset SMA shows promising results in clinical trial

First investigational treatment for infantile-onset SMA shows promising results in clinical trial

Moderately high TSH concentrations in infants linked to neurodevelopmental outcomes at school age

Moderately high TSH concentrations in infants linked to neurodevelopmental outcomes at school age

Adding DNA sequencing to newborn screenings may increase early diagnosis of cystic fibrosis

Adding DNA sequencing to newborn screenings may increase early diagnosis of cystic fibrosis

Illumina signs initial customer deals for new Global Screening Array

Illumina signs initial customer deals for new Global Screening Array

New study sheds light on impact of unknown genetic mutations in cystic fibrosis patients

New study sheds light on impact of unknown genetic mutations in cystic fibrosis patients

Newborn screen for Niemann-Pick disease type C ready for piloting

Newborn screen for Niemann-Pick disease type C ready for piloting