Newborn Screening News and Research

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New tests could improve diagnosis of two rare childhood diseases

New tests could improve diagnosis of two rare childhood diseases

New study finds a reason for ethnic disparity in CF diagnoses

New study finds a reason for ethnic disparity in CF diagnoses

New technology may facilitate early detection of sickle cell disease for infants in developing countries

New technology may facilitate early detection of sickle cell disease for infants in developing countries

NORD launches first-ever State Progress Report on rare disease treatment

NORD launches first-ever State Progress Report on rare disease treatment

‘Medical foods’ for patients with rare IEMs may cause harm when not carefully managed

‘Medical foods’ for patients with rare IEMs may cause harm when not carefully managed

High-frequency tympanometry testing can help identify middle-ear problems in newborn babies

High-frequency tympanometry testing can help identify middle-ear problems in newborn babies

DTC genetic testing has negative consequences in children

DTC genetic testing has negative consequences in children

R. Rodney Howell receives ASHG’s annual Advocacy Award

R. Rodney Howell receives ASHG’s annual Advocacy Award

Study shows cystic fibrosis is more deadly for Hispanic than non-Hispanic patients

Study shows cystic fibrosis is more deadly for Hispanic than non-Hispanic patients

International researchers identify previously unknown genetic immunodeficiency

International researchers identify previously unknown genetic immunodeficiency

AACC receives three 2015 Hermes Creative Awards

AACC receives three 2015 Hermes Creative Awards

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

Couple renews multi-million dollar commitment to screen newborn babies for SCID disorders

Couple renews multi-million dollar commitment to screen newborn babies for SCID disorders

Pitt researchers awarded $11.8 million NIH grant to explore genetic roots of cleft lip, palate

Pitt researchers awarded $11.8 million NIH grant to explore genetic roots of cleft lip, palate

Newborn screening can prevent lifelong disability

Newborn screening can prevent lifelong disability

SCD patients who experience discrimination are less likely to follow physician recommendations

SCD patients who experience discrimination are less likely to follow physician recommendations

Newborn screening for SCID holds promise that affected children can lead healthy lives

Newborn screening for SCID holds promise that affected children can lead healthy lives

Study underscores the importance of newborn screening for Bubble Boy disease

Study underscores the importance of newborn screening for Bubble Boy disease

Study examines national impact of newborn screening test for SCID

Study examines national impact of newborn screening test for SCID

Newborn screening indicates that incidence of SCID is higher than previously believed

Newborn screening indicates that incidence of SCID is higher than previously believed