Newborn Screening News and Research

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

Michael Pulsipher, MD, of the Children's Center for Cancer and Blood Diseases at Children's Hospital Los Angeles, along with co-principal investigator, Sung-Yun Pai, MD, of Boston Children's Hospital, has been awarded nearly $9 million from the National Institute of Allergy and Infectious Diseases of the NIH to study a new treatment approach for babies born with severe combined immunodeficiency (SCID) which prevents the immune system from functioning normally.

6 Oct 2017

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

Kerri De Nies received the news this spring from her son's pediatrician: Her chubby-cheeked toddler had a rare brain disorder.

5 Oct 2017

Gene therapy effectively stabilizes progression of cerebral adrenoleukodystrophy, trial reveals

In a recent clinical trial, a gene therapy to treat cerebral adrenoleukodystrophy (CALD) -- a neurodegenerative disease that typically claims young boys' lives within 10 years of diagnosis -- effectively stabilized the disease's progression in 88 percent of patients, researchers from the Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Massachusetts General Hospital report today.

4 Oct 2017

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

Babies born with Severe Combined Immune Deficiency (SCID) syndrome are defenceless against bacterial and viral infections that would be virtually harmless to most healthy people. If untreated, SCID is often fatal within a baby's first year of life.

13 Sep 2017

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

A doctor in Nigeria and a professor at Michigan State University have teamed up to reduce infant mortality in the African nation.

23 Aug 2017

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