Newborn Screening News and Research

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New diagnostic workflow improves detection of 5q-spinal muscular atrophy

5q-spinal muscular atrophy (5q-SMA) is one of the more common types of spinal muscular atrophy (SMA) affecting around one in ten thousand individuals worldwide.

15 Nov 2023

Augmentation therapy can save lives of people with alpha-1 antitrypsin deficiency, study shows

Boosting levels of a deficient protein has clear survival benefits for people with the genetic condition alpha-1 antitrypsin deficiency (AATD), according to new research led by RCSI University of Medicine and Health Sciences.

1 Nov 2023

Universal screening: A game-changer in early detection and management of type 1 diabetes

Dr. Emily K. Sims discusses the crucial role of universal type 1 diabetes (T1D) screening in early detection, especially in individuals without a family history, at the EASD Annual Meeting. This proactive approach, aligned with disease-modifying therapies, aims to prevent severe diabetic ketoacidosis episodes, marking a stride towards better management of T1D.

3 Oct 2023

Newborn screening for neurodevelopmental disorders may cause more harm than good

Expanding newborn screening (NBS) to include identifying genes associated with an increased risk for neurodevelopmental disorders (NDD) would cause more harm than good, according to an article published in Pediatrics.

20 Sep 2023

Genetic sequencing shows promise as first-tier newborn screening test

Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly assessing a comprehensive range of monogenic disorders.

14 Sep 2023

New gene therapy offers hope for beta thalassemia patients

UCSF Benioff Children's Hospital Oakland provides new therapy to first patient since FDA approval.

31 Aug 2023

Is there clinical value in screening healthy children with genome sequencing compared with a gene panel for medically actionable pediatric conditions?

Researchers compared the efficacy of proactive genome sequencing and a medically actionable gene panel in identifying potential risk for pediatric-onset disorders in healthy newborns and children.

2 Aug 2023

Late diagnosis of cystic fibrosis leads to poorer long-term health outcomes, study finds

The Journal of Pediatrics has published a manuscript by Stacey Martiniano, MD, pulmonary specialist at Children's Hospital Colorado and associate professor of pediatrics at the University of Colorado.

31 Jul 2023

New study findings underscore the importance of timely newborn screenings in early care for cystic fibrosis

29 Jul 2023

New campaign aims to reduce missed or delayed diagnosis of cystic fibrosis after newborn screening

Ann & Robert H. Lurie Children's Hospital of Chicago is leading an awareness campaign that aims to reduce missed or delayed diagnosis of cystic fibrosis after newborn screening, especially in non-White infants.

24 Jul 2023

Sickle cell disease: A global call to action

Reducing the burden of Sickle Cell Disease (SCD) requires substantial financial and political commitment to improving data-collection, diagnosis, treatment and training - doing so will positively impact the lives of millions of patients and families worldwide - says a new Commission published in The Lancet Haematology journal.

12 Jul 2023

Newborn screening for "bubble-baby" disease boosts survival of children

Screening newborns for severe combined immunodeficiency disease (SCID) significantly increases the survival of children after bone marrow transplantation, a new North American study finds.

21 Jun 2023

Newborn screening facilitates early identification of infants with severe combined immunodeficiency

Introducing widespread screening of newborns for a deadly disease called severe combined immunodeficiency, or SCID, followed by early treatment boosted the five-year survival rate of children with the disorder from 73% before the advent of screening to 87% since, researchers report.

20 Jun 2023

Study provides a more complete picture of sickle cell disease mortality burden

A new study suggests the number of deaths due to sickle cell disease is 11 times higher than what is indicated from mortality data sources alone. Sickle cell disease is not just underdiagnosed, but it also increases risk of infection and of death from conditions like stroke, heart problems, kidney problems, and pregnancy complications.

13 Jun 2023

ACMG publishes updated recommendations for CFTR carrier screening

The American College of Medical Genetics and Genomics (ACMG) has released updated recommendations for CFTR carrier screening –Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics.

13 Jun 2023

Newborn genome sequencing project identifies unanticipated disease risks

Genomic sequencing of newborns reveals unanticipated genetic risks, prompting actionable medical interventions and potential life-saving care for infants and their families. This study highlights the value of comprehensive sequencing in newborns for early detection and management of genetic conditions.

7 Jun 2023

Newborn Screening News and Research

New diagnostic workflow improves detection of 5q-spinal muscular atrophy

Augmentation therapy can save lives of people with alpha-1 antitrypsin deficiency, study shows

Universal screening: A game-changer in early detection and management of type 1 diabetes

Newborn screening for neurodevelopmental disorders may cause more harm than good

Genetic sequencing shows promise as first-tier newborn screening test

New gene therapy offers hope for beta thalassemia patients

Is there clinical value in screening healthy children with genome sequencing compared with a gene panel for medically actionable pediatric conditions?

Late diagnosis of cystic fibrosis leads to poorer long-term health outcomes, study finds

New study findings underscore the importance of timely newborn screenings in early care for cystic fibrosis

New campaign aims to reduce missed or delayed diagnosis of cystic fibrosis after newborn screening

Sickle cell disease: A global call to action

Newborn screening for "bubble-baby" disease boosts survival of children

Newborn screening facilitates early identification of infants with severe combined immunodeficiency

Study provides a more complete picture of sickle cell disease mortality burden

ACMG publishes updated recommendations for CFTR carrier screening

Newborn genome sequencing project identifies unanticipated disease risks

Large-scale comprehensive sequencing helps downstream medical care in newborns

The first thousand days of development

Study highlights a persistent life expectancy gap among patients living with sickle cell disease

Rare Diseases Action Plan for England focuses on providing better care and reducing health inequalities

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