Newborn Screening News and Research

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PerkinElmer provides newborn screening assay for PPMD’s New York State pilot program

PerkinElmer provides newborn screening assay for PPMD’s New York State pilot program

Researchers identify key biomarkers for predicting autism in newborns

Researchers identify key biomarkers for predicting autism in newborns

Mapping genetic links between diseases using data from electronic health records

Mapping genetic links between diseases using data from electronic health records

For newborns with hearing loss, screening opens window to a world of sound

For newborns with hearing loss, screening opens window to a world of sound

PWSA (USA) announces support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019

PWSA (USA) announces support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019

CDC to fund sickle cell disease surveillance

CDC to fund sickle cell disease surveillance

AGS patients more likely to suffer from sexual dysfunction, shows study

AGS patients more likely to suffer from sexual dysfunction, shows study

KHN’s ‘What the Health?’: Biden doubles down on Obamacare

KHN’s ‘What the Health?’: Biden doubles down on Obamacare

More screening and new treatments needed for sickle cell disease

More screening and new treatments needed for sickle cell disease

Novel method for evaluating genomic sequencing results in newborn screening

Novel method for evaluating genomic sequencing results in newborn screening

Blood test and mathematical model can estimate preterm birth rate in low-resource countries

Blood test and mathematical model can estimate preterm birth rate in low-resource countries

Study brings clarity about milk intake for children with Duarte galactosemia

Study brings clarity about milk intake for children with Duarte galactosemia

Single CRISPR treatment can safely and stably correct genetic disease

Single CRISPR treatment can safely and stably correct genetic disease

Scientists discover new biomarkers for early detection of cystic fibrosis

Scientists discover new biomarkers for early detection of cystic fibrosis

Elevated hormone flags liver disease in mice with serious genomic disorder

Elevated hormone flags liver disease in mice with serious genomic disorder

Genetic testing and breakthrough therapies may transform diagnosis, care of neuromuscular disease

Genetic testing and breakthrough therapies may transform diagnosis, care of neuromuscular disease

Leadiant Biosciences announces FDA approval of Revcovi for treating pediatric, adult ADA-SCID patients

Leadiant Biosciences announces FDA approval of Revcovi for treating pediatric, adult ADA-SCID patients

ACMG’s NICHD contract extended for Newborn Screening Translational Research Network

ACMG’s NICHD contract extended for Newborn Screening Translational Research Network

Shared decision making needed to diagnose, treat, and manage patients with CAH

Shared decision making needed to diagnose, treat, and manage patients with CAH

Using novel gene therapy to cure infants born with severe combined immunodeficiency

Using novel gene therapy to cure infants born with severe combined immunodeficiency