Newborn Screening News and Research

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Mapping genetic links between diseases using data from electronic health records

Physicians use standard disease classifications based on symptoms or location in the body to help make diagnoses. These classifications, called nosologies, can help doctors understand which diseases are closely related, and thus may be caused by the same underlying issues or respond to the same treatments.

9 Dec 2019

For newborns with hearing loss, screening opens window to a world of sound

Four-year-old Betty Schottler starts each morning with the same six sounds: [m], [ah], [oo], [ee], [sh], and [s].

19 Nov 2019

PWSA (USA) announces support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019

Today, PWSA (USA) announced its support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019, a bill to enable States to better provide access to whole genome sequencing clinical services for certain undiagnosed children under the Medicaid program, and for other purposes.

27 Sep 2019

CDC to fund sickle cell disease surveillance

The Centers for Disease Control and Prevention (CDC) has announced a funding of $1.2 million to different states in order to collect data and information from people suffering from sickle cell disease. The program called the Sickle Cell Data Collection program or SCDC is at present functional in two states - California and Georgia. With the new funds coming in, nine states would be able to collect and send population based information on the health of persons living with sickle cell disease.

27 Sep 2019

AGS patients more likely to suffer from sexual dysfunction, shows study

AdrenoGenital Syndrome (AGS) encompasses a group of inherited metabolic disorders caused by a disruption in steroid hormone production in the adrenal cortex.

25 Sep 2019

KHN’s ‘What the Health?’: Biden doubles down on Obamacare

Former Vice President Joe Biden has said if he's elected president he would build on the Affordable Care Act rather than move to a whole new health care system, such as the "Medicare for All" plan supported by some of his primary opponents for the Democratic nomination.

19 Jul 2019

More screening and new treatments needed for sickle cell disease

The promise of new treatments for sickle cell disease, a group of inherited red blood cell disorders, has never been so great, but it will only be realized if there is constant investment in health policies such as programs for screening newborns, especially in sub-Saharan Africa, where most cases occur.

13 Jun 2019

Novel method for evaluating genomic sequencing results in newborn screening

Newborn screening is required in the U.S. and differs slightly depending on which state you live in. For the most part, it's done before a newborn baby leaves the hospital and includes a blood test that screens for 30-50 serious health problems that usually arise in infancy or childhood, and could hinder normal development.

26 May 2019

Blood test and mathematical model can estimate preterm birth rate in low-resource countries

Preterm birth is a leading cause of death among children under the age of five, with low resource countries facing the greatest challenge.

19 Mar 2019

Study brings clarity about milk intake for children with Duarte galactosemia

Milk can be lethal to babies with classic galactosemia, a rare genetic disorder that severely impairs the body's ability to process a milk sugar known as galactose and is associated with a host of neurodevelopmental issues.

19 Mar 2019

Single CRISPR treatment can safely and stably correct genetic disease

Researchers at Duke University have shown that a single systemic treatment using CRISPR genome editing technology can safely and stably correct a genetic disease -- Duchenne muscular dystrophy (DMD) -- for more than a year in mice, despite observed immune responses and alternative gene editing outcomes.

18 Feb 2019

Scientists discover new biomarkers for early detection of cystic fibrosis

Scientists at McMaster University have discovered several new biomarkers from a single drop of blood that could allow earlier and more definitive detection of cystic fibrosis, a genetic disease which strikes both children and adults, causing chronic problems with the digestive system and the lungs.

20 Dec 2018

Elevated hormone flags liver disease in mice with serious genomic disorder

Researchers have discovered that a hormone, fibroblast growth factor 21 (FGF21), is extremely elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia (MMA), a serious genomic disorder.

6 Dec 2018

Genetic testing and breakthrough therapies may transform diagnosis, care of neuromuscular disease

A new report funded by the Muscular Dystrophy Association and released by the IQVIA Institute for Human Data Science indicates that genetic testing and breakthrough therapies will transform the diagnosis and care of neuromuscular disease within the next decade.

31 Oct 2018

Leadiant Biosciences announces FDA approval of Revcovi for treating pediatric, adult ADA-SCID patients

Leadiant Biosciences, Inc. today announced that the Food and Drug Administration has granted approval to Revcovi (elapegademase-lvlr) injection in the U.S. Revcovi is a new enzyme replacement therapy for the treatment of adenosine deaminase severe combined immune deficiency in pediatric and adult patients.

7 Oct 2018

ACMG’s NICHD contract extended for Newborn Screening Translational Research Network

The American College of Medical Genetics and Genomics (ACMG) has been awarded a five-year extension of its NICHD contract for The Newborn Screening Translational Research Network (NBSTRN).

5 Oct 2018

Shared decision making needed to diagnose, treat, and manage patients with CAH

The Endocrine Society today issued a Clinical Practice Guideline that offers best practices for healthcare providers on how to promptly diagnose, treat, and manage patients with congenital adrenal hyperplasia, an inherited endocrine disorder, throughout their entire lives.

28 Sep 2018

Using novel gene therapy to cure infants born with severe combined immunodeficiency

Out of every 60,000 births, a baby arrives to face the world without a fully functioning immune system leaving them unequipped to fight even the most common infections.

29 Aug 2018

Experts advise against universal genomic screening of newborns

In a new report, experts at The Hastings Center advise against genomic screening of newborns, despite it's potential for providing life long personalized care.

16 Aug 2018

FDA expands approval of Vertex' cystic fibrosis medicine to treat children aged 12 to <24 months

Vertex Pharmaceuticals Incorporated today announced the U.S. Food and Drug Administration approved KALYDECO® (ivacaftor) to include use in children with cystic fibrosis ages 12 to <24 months who have at least one mutation in their cystic fibrosis transmembrane conductance regulator gene that is responsive to KALYDECO based on clinical and/or in vitro assay data.