Newborn Screening News and Research

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Study reveals differences in the brains of children with fragile X syndrome

Study reveals differences in the brains of children with fragile X syndrome

Study shows limitations of AAV gene therapy in treating hereditary adrenal disorders

Study shows limitations of AAV gene therapy in treating hereditary adrenal disorders

Briefing note examines ethical issues in whole genome sequencing of babies

Briefing note examines ethical issues in whole genome sequencing of babies

New medication improves motor function in children with later-onset spinal muscular atrophy

New medication improves motor function in children with later-onset spinal muscular atrophy

A guide to Severe Combined Immunodeficiency Disease, review released

A guide to Severe Combined Immunodeficiency Disease, review released

New review provides guidance to doctors who may treat infants with ‘bubble boy disease’

New review provides guidance to doctors who may treat infants with ‘bubble boy disease’

Newborn screening for SMA favored by most people, study finds

Newborn screening for SMA favored by most people, study finds

CF patients in the U.S. show faster rate of improvement in lung function and nutrition

CF patients in the U.S. show faster rate of improvement in lung function and nutrition

Sickle cell patients suffer discrimination, poor care — and shorter lives

Sickle cell patients suffer discrimination, poor care — and shorter lives

An alternative approach to augmenting the effect of antibiotics in chronic CF lung infections

An alternative approach to augmenting the effect of antibiotics in chronic CF lung infections

Study to determine lowest dose of chemotherapy needed for babies with SCID

Study to determine lowest dose of chemotherapy needed for babies with SCID

Moms of children with rare genetic illness push for wider newborn screening

Moms of children with rare genetic illness push for wider newborn screening

Gene therapy effectively stabilizes progression of cerebral adrenoleukodystrophy, trial reveals

Gene therapy effectively stabilizes progression of cerebral adrenoleukodystrophy, trial reveals

New testing regime could speed up diagnosis and treatment of SCID in infants

New testing regime could speed up diagnosis and treatment of SCID in infants

Doctor in Nigeria and MSU professor join hands to reduce infant mortality

Doctor in Nigeria and MSU professor join hands to reduce infant mortality

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