Newborn Screening News and Research

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FDA approves new xTAG Cystic Fibrosis 39 Kit v2 from Luminex

Luminex Corporation (NASDAQ: LMNX), the worldwide leader in multiplexed solutions, today announced that it has received 510(k) clearance from the U.S. Food and Drug Administration (FDA) for a new cystic fibrosis (CF) test: the xTAG® Cystic Fibrosis 39 Kit v2.

From Thermo Fisher Scientific Inc. 4 Sep 2009

Discovery of new genetic immune disorder in children

Your immune system plays an important function in your health - it protects you against viruses, bacteria, and other toxins that can cause disease. In autoinflammatory diseases, however, the immune system goes awry, causing unprovoked and dangerous inflammation.

4 Jun 2009

Muscular dystrophy diagnosis delayed in boys

Boys show signs of Duchenne Muscular Dystrophy (DMD) for 2 ½ years before they obtain a diagnosis and disease-specific treatment, about the same length of delay children have endured for the past 20 years despite advances in genetic testing and treatment.

11 May 2009

Childhood hearing loss more prevalent among Hispanic-American, low-income households

A new review of medical databases shows that neonatal hearing loss, already one of the most common birth disorders in the United States, is especially prevalent among Hispanic-Americans and those from low-income households, according to the April 2009 issue of Otolaryngology-Head and Neck Surgery.

1 Apr 2009

BioMarin receives notice of allowance for Kuvan patent

BioMarin Pharmaceutical Inc. has announced that it has received a notice from the United States Patent Office reporting allowance of claims covering once daily dosing methods for Kuvan (sapropterin dihydrochloride) in the treatment of phenylketonuria (PKU).

30 Mar 2009

States expand newborn screening for life-threatening disorders

Regardless of where they are born in the United States, nearly all newborns now receive mandated screening for many life-threatening disorders, a remarkable public health advance of the last four years, according to a new report issued today by the March of Dimes.

20 Feb 2009

Archived blood from infant heel stick tests could lead to discoveries about diseases that have roots in perinatal period

Van Andel Institute (VAI) researchers are the first to apply a new technology to measure on a large scale the presence of genes in blood spots - the blood drawn from newborn infants to screen for health-threatening conditions.

16 Dec 2008

Merck Serono's Kuvan receives European marketing authorization

Merck Serono, a division of Merck KGaA, Darmstadt, Germany, today announced that the European Commission has granted marketing authorization for Kuvan(R) for the treatment of hyperphenylalaninemia (HPA) in phenylketonuria (PKU) or BH4 deficient patients.

10 Dec 2008

Intervention in infants with cystic fibrosis key to slowing progression

Early detection of lung disease in cystic fibrosis (CF), combined with aggressive treatment in infants, may be the key to controlling the progression of the disease, according to a recent study.

5 Dec 2008

Researchers urge physicians to test for fragile X gene mutations in patients of all ages

Writing in this week's Journal of the American Medical Association , UC Davis M.I.N.D. Institute researchers urge physicians to test for mutations of the fragile X gene in patients of all ages.

25 Nov 2008

Novel newborn screening kits developed by NovaUCD-based Enzolve Technologies

Enzolve Technologies, a UCD spin-out company based at NovaUCD the Innovation and Technology Transfer Centre at University College Dublin, has received substantial investment from Enterprise Ireland under the National Development Plan (2007-2013) and private investors.

29 Apr 2008

Predictors for sickle-cell-anemia complications

Researchers at UT Southwestern Medical Center have determined that the level, or saturation, of oxygen in blood could be used to identify children with sickle cell anemia who are at an increased risk of stroke.

6 Mar 2008

Researchers investigate predictors for sickle-cell-anemia complications

1 Mar 2008

Decline in cystic fibrosis since introduction of prenatal carrier screening

A brief report in the February 28, 2008, New England Journal of Medicine, led by researchers at the New England Newborn Screening Program (NENSP) of the University of Massachusetts Medical School (UMMS), indicates a declining incidence of a genetic disease, providing what may be the first demonstration of a link between two independent population-based screening programs.

28 Feb 2008

March of Dimes implores legislators to vote in favor of hearing screen

The March of Dimes is making a House call -- House of Representatives that is. On February 21, 2008, the March of Dimes and volunteers from around the state will meet with legislators to discuss several issues, the most important of which is passage of House Bill 1177.

21 Feb 2008

Wisconsin now screens all newborns for severe combined immune deficiency

Wisconsin became the first state in the nation to screen all newborns for Severe Combined Immune Deficiency (SCID).

4 Jan 2008

BioMarin files investigational NDA for PEG-PAL for the treatment of phenylketonuria

BioMarin Pharmaceutical Inc. has announced that it has filed an investigational new drug application (IND) with the U.S. Food and Drug Administration (FDA) for PEG-PAL (Poly Ethylene Glycol-Phenylalanine Ammonia Lyase), formerly known as Phenylase, for the treatment of phenylketonuria (PKU).

27 Nov 2007