Newborn Screening News and Research

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Real-world data validates gene therapy for spinal muscular atrophy

Findings from a new study in the Journal of Neuromuscular Diseases, published by IOS Press, demonstrate the effectiveness of disease-modifying treatments (DMTs) in infants with spinal muscular atrophy (SMA).

15 Apr 2024

Cystic fibrosis drug found to be safe and effective in newborns

A Cystic Fibrosis drug targeting the basic defect that causes the condition has been shown to be safe and effective in newborns aged four weeks and above, new research involving RCSI University of Medicine and Health Sciences and Children's Health Ireland has found.

12 Apr 2024

Hope for PDCD and Cure Mito Foundation unveil joint patient registry

Cure Mito Foundation and Hope for PDCD foundation, both patient-led foundations focused on advancing research and supporting families affected by Leigh syndrome and Pyruvate Dehydrogenase Complex Deficiency (PDCD), respectively, are excited to announce a launch of a PDCD patient registry.

18 Mar 2024

Universal screening of congenital cytomegalovirus infection with pooled saliva tests

New study displays successful implementation of pooled saliva tests for universal screening of congenital cytomegalovirus (cCMV) infection.

12 Mar 2024

Study: Two-thirds of babies with sickle cell disease are born to mothers living in disadvantaged areas

As if starting life with a potentially disabling genetic blood disease wasn't enough, a study shows that almost two-thirds of babies born with sickle cell disease are born to mothers who live in disadvantaged areas.

4 Jan 2024

Novel mechanism leads to motor neuron degeneration in spinal muscular atrophy

The lab of Yongchao C. Ma, PhD, at Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago uncovered a novel mechanism that leads to motor neuron degeneration in spinal muscular atrophy (SMA).

7 Dec 2023

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