Newborn Screening News and Research

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Study examines effectiveness of caregiver education about sickle cell trait

Despite universal newborn screening that detects the presence of sickle cell trait (SCT), only 16 percent of Americans with SCT know their status. To address this issue, in Ohio, in-person education is offered to caregivers of referred infants with SCT.

18 Apr 2018

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

For the first time, UNC School of Medicine researchers have used MRIs to show that babies with the neurodevelopmental condition fragile X syndrome had less-developed white matter compared to infants that did not develop the condition.

4 Apr 2018

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

A new study has definitively shown that a single treatment with gene therapy using adeno-associated viral (AAV) vector gene delivery to replace the defective gene responsible for congenital adrenal hyperplasia (CAH) will only temporarily alleviate the hereditary disorder.

29 Mar 2018

Briefing note examines ethical issues in whole genome sequencing of babies

The Nuffield Council on Bioethics has today published a briefing note that examines the ethical issues raised by whole genome sequencing of babies.

28 Mar 2018

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

Children with later-onset spinal muscular atrophy (SMA) were more likely to show gains in motor function when treated with a new medication compared to children receiving a sham procedure, according to a study published today in the New England Journal of Medicine.

15 Feb 2018

A guide to Severe Combined Immunodeficiency Disease, review released

A new review published today in the Canadian Medical Association Journal provides guidance on Severe Combined Immunodeficiency Disease (SCID), a deadly and rare disease that is potentially curable if detected early.

18 Dec 2017

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

A new review provides guidance on a deadly, but rare, disease that is potentially curable if identified early. Severe combined immunodeficiency disease (SCID), known as the "bubble boy disease" in the 1970s, is treatable with a stem cell transplant, gene therapy and other treatments if identified at birth or soon after.

18 Dec 2017

Newborn screening for SMA favored by most people, study finds

Research from the University of Warwick indicates that most people are in favor of newborn screening for the potentially deadly condition spinal muscular atrophy (SMA).

6 Dec 2017

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

New research comparing cystic fibrosis patients in the United States and Canada showed that, although the patients' nutritional status and lung function improved in both countries over the period from 1990 to 2013, the rate of improvement was faster in the United States.

22 Nov 2017

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

For more than a year, NeDina Brocks-Capla avoided one room in her large, brightly colored San Francisco house — the bathroom on the second floor.

6 Nov 2017

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

There are about 77,000 people known to have cystic fibrosis. That's from the various cystic fibrosis registries available globally. The World Health Organization suggests that this number may be low, because there's no reporting on cystic fibrosis from the developing world. The accepted number, at the moment, is about 80,000. That's the one that is used for most of the work that's being done on cystic fibrosis.

From Neem Biotech 3 Nov 2017

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