Newborn Screening News and Research

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Small clinical trial shows promise for treating rare neurodegenerative disease

Results of a small clinical trial show promise for treating a rare neurodegenerative condition that typically kills those afflicted before they reach age 20.

11 Aug 2017

PerkinElmer introduces affordable clinical genomics services

PerkinElmer, Inc. , a global leader committed to innovating for a healthier world, today announced the launch of PerkinElmer Genetics' clinical genomics services.

3 Aug 2017

Newly identified biomarkers could lead to better therapies for cystic fibrosis

Researchers have identified two new biological markers of cystic fibrosis (CF), a genetic disease which affects children and young adults, leaving them with lifelong health complications including digestive problems and persistent lung infections.

31 Jul 2017

Age-related macular degeneration could be arrested by switching to low-glycemic diet, study finds

A study in mice finds that development of age-related macular degeneration (AMD) could be arrested by switching from a high-glycemic diet (starches as are found in white bread) to a low-glycemic (starches found in whole grains).

16 May 2017

New research reveals link between sickle cell trait and increased risk of developing kidney failure

New research indicates that being born with one copy of the sickle gene puts an individual at elevated risk for developing kidney failure requiring dialysis.

10 Mar 2017

FDA grants permission to market new Seeker System for screening rare metabolic disorders in newborns

The U.S. Food and Drug Administration today permitted marketing of the Seeker System for the screening of four, rare Lysosomal Storage Disorders (LSDs) in newborns.

3 Feb 2017

Experts update cystic fibrosis guidelines for better diagnosis and personalized treatment

An international research group of 32 experts from nine countries has updated the guidelines for diagnosing the genetic disease cystic fibrosis.

31 Jan 2017

Scientists decode genetic profile of rare inherited disorder that can cause genital ambiguity

A complete clinical and genetic profile of a rare inherited disorder, steroid 11-hydroxylase deficiency, which can cause genital masculinization in females, is being reported by an international group of researchers led by investigators at the Icahn School of Medicine at Mount Sinai.

30 Jan 2017

IQWiG assesses benefit of newborn screening for severe combined immunodeficiency

The German Institute for Quality and Efficiency in Health Care assessed the benefit of newborn screening for severe combined immunodeficiency (SCID).

30 Jan 2017

New gene therapy for Pompe disease may replace currently available treatments

After decades investigating a rare, life-threatening condition that cripples the muscles, Duke Health researchers have developed a gene therapy they hope could enhance or even replace the only FDA-approved treatment currently available to patients.

27 Jan 2017

Researchers explore ins and outs of genome sequencing in newborns

When you have a baby, a nurse or a phlebotomist performs a heel stick to take a few drops of blood from your infant and sends it off to a state lab for a battery of tests.

19 Jan 2017

Newborns with low levels of vitamin D may more likely develop multiple sclerosis in later life

Babies born with low levels of vitamin D may be more likely to develop multiple sclerosis (MS) later in life than babies with higher levels of vitamin D, according to a study published in the November 30, 2016, online issue of Neurology, the medical journal of the American Academy of Neurology.

30 Nov 2016

Congenital CMV infection highly common among children with cerebral palsy, study finds

Cytomegalovirus is a common herpesvirus that can cross the placenta, infect the fetus and cause damage to the developing brain.

15 Nov 2016

Benefit and harm of tandem mass spectrometry screening for tyrosinaemia type 1 remain unclear

Tyrosinaemia type 1 is a rare, hereditary metabolic disease that, if left untreated, can already lead to serious liver and kidney damage in infancy.

25 Oct 2016

First investigational treatment for infantile-onset SMA shows promising results in clinical trial

A major milestone was reached when nusinersen, an investigational treatment for spinal muscular atrophy (SMA), was shown to significantly improve achievement of motor milestones in babies with infantile-onset SMA, according to an interim analysis of the double-blind, randomized, placebo controlled Phase 3 clinical trial called ENDEAR.

11 Aug 2016

Moderately high TSH concentrations in infants linked to neurodevelopmental outcomes at school age

Babies born with moderately high concentrations of thyroid stimulating hormone have a higher risk of poor educational and development outcomes at school age, a world-first University of Sydney study reveals.

28 Jul 2016

Adding DNA sequencing to newborn screenings may increase early diagnosis of cystic fibrosis

A study by researchers at Children's Hospital Los Angeles, Brigham and Women's Hospital and the California Department of Public Health suggests that all babies with a known mutation for cystic fibrosis (CF) and second mutation called the 5T allele should receive additional screening in order to better predict the risk of developing CF later in life.

26 Jul 2016