Newborn Screening News and Research

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Study emphasizes benefits of newborn screening for CF patients

Study emphasizes benefits of newborn screening for CF patients

Pediatric researchers uncover new syndrome that causes intellectual disability

Pediatric researchers uncover new syndrome that causes intellectual disability

Enhanced diet helps slow progression of hereditary deafness

Enhanced diet helps slow progression of hereditary deafness

Three Case Western faculty members receive funding to develop new diagnostic technologies

Three Case Western faculty members receive funding to develop new diagnostic technologies

Metabolic profile derived from routine newborn screenings could determine infant's gestational age

Metabolic profile derived from routine newborn screenings could determine infant's gestational age

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