Newborn Screening News and Research

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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.

16 Aug 2018

Report discusses whether all newborns should undergo genetic sequencing

As the cost of genome sequencing decreases, researchers and clinicians are debating whether all newborns should be sequenced at birth, facilitating a lifetime of personalized medical care.

16 Aug 2018

Next-generation metabolomics may pave way for creating new antidepressants

Depression is one of the most common diseases that affects at least 4.4% of the world population since 2015. Current antidepressants are limited by their undesirable side effects and slow onset.

7 Aug 2018

Study findings highlight importance of early detection of SMA through newborn screening

Spinal muscular atrophy is a genetic disease that affects motor neurons in the spinal cord, resulting in muscle atrophy and widespread weakness that eventually impair swallowing and breathing.

17 Jul 2018

DNA patterns in circulating blood cells can help identify spastic cerebral palsy

A Delaware team including Erin Crowgey, PhD, associate director of Bioinformatics with Nemours Biomedical Research, has published a study in the peer-reviewed journal BMC Bioinformatics, showing that DNA patterns in circulating blood cells can be used to help identify spastic cerebral palsy (CP) patients.

22 Jun 2018

Newborn Screening News and Research

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

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

More screening and new treatments needed for sickle cell disease

Novel method for evaluating genomic sequencing results in newborn screening

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

Study brings clarity about milk intake for children with Duarte galactosemia

Single CRISPR treatment can safely and stably correct genetic disease

Scientists discover new biomarkers for early detection of cystic fibrosis

Elevated hormone flags liver disease in mice with serious genomic disorder

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

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

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

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

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

Experts advise against universal genomic screening of newborns

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

Report discusses whether all newborns should undergo genetic sequencing

Next-generation metabolomics may pave way for creating new antidepressants

Study findings highlight importance of early detection of SMA through newborn screening

DNA patterns in circulating blood cells can help identify spastic cerebral palsy

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