Newborn Screening News and Research

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CHOP offers new software toolkit to help researchers wrangle data

Biomedical researchers often confront large quantities of information that may be amassed in many forms: vital signs, blood cell counts, lengthy DNA sequences, bar graphs, MRIs, patient demographics, and so much more. How do researchers assemble, access and analyze all that data without having to become specialized database technicians themselves?

18 Oct 2013

Study shows fat transplantation may treat inherited metabolic diseases

Transplanting fat may treat such inherited metabolic diseases as maple syrup urine disease (MSUD) by helping the body process the essential amino acids that these patients cannot, according to Penn State College of Medicine researchers.

12 Sep 2013

UCSF to receive grant to study gene sequencing aimed at detecting disorders in newborns

UC San Francisco will receive $4.5 million over the next five years for a pilot project to assess whether large-scale gene sequencing aimed at detecting disorders and conditions can and should become a routine part of newborn testing.

6 Sep 2013

UNC study to explore technology use in screening newborns for genetic conditions

As the clinical use of genomic testing expands, the practical and ethical considerations of using the technology to screen newborns for genetic conditions will be the focus of a new study undertaken at the University of North Carolina.

5 Sep 2013

65 metabolites in urine simultaneously measured by clinical IEM-by-NMR screening study in Turkey

At the 12th International Congress of Inborn Errors of Metabolism (www.iciem2013.com), Bruker announces another milestone in the cost-effective use of NMR (nuclear magnetic resonance) spectroscopy screening as a clinical research tool for metabolic screening and small molecule in vitro diagnostics (IVD) research and validation.

4 Sep 2013

Researchers discover additional cystic fibrosis-causing mutations

Of the over 1,900 errors already reported in the gene responsible for cystic fibrosis, it is unclear how many of them actually contribute to the inherited disease. Now a team of researchers reports significant headway in figuring out which mutations are benign and which are deleterious. In so doing, they have increased the number of known CF-causing mutations from 22 to 127, accounting for 95 percent of the variations found in patients with CF.

26 Aug 2013

GSTS Pathology celebrate success of Innovation Academy event

GSTS Pathology recently hosted their first Innovation Academy event in London (28 June 2013). This inaugural scientific symposium welcomed over 100 attendees, offering participants great networking opportunities and the chance to hear presentations from a group of GSTS experts. Discussions were focused into four tracks: Child Health, Keeping People Healthy, Infectious Diseases, and Next Generation Diagnostics. On show was the innovative approach to laboratory medicine that can be found throughout the GSTS Pathology organisation.

6 Aug 2013

Viewpoints: Expanding abortion restrictions; Lift the ban on gay blood donors; Medicare's price schedules

What's going on in Wisconsin, North Dakota, South Dakota and Iowa ought to be a wake-up call to Minnesotans who prefer that physicians, not politicians, guide an individual's medical care. Minnesota's neighbors have moved with alarming alacrity to cripple women's access to a safe and legal medical procedure -; abortion (7/18).

20 Jul 2013

Study examines relationship between medical interventions in childhood, increasing prevalence of later ID

A study by Jeffrey P. Brosco, M.D., Ph.D., of the University of Miami, Florida, and colleagues examines the relationship between medical interventions in early childhood and the increasing prevalence of later intellectual disability.

30 Apr 2013

Researchers to test cyclodextrin for treating Niemann-Pick Type C disease

Washington University School of Medicine in St. Louis is playing a leading role in one of the National Institutes of Health's (NIH) first clinical trials to improve treatments for rare and neglected diseases.

3 Apr 2013

Screening healthy adults could potentially prevent rare genetic disorders

Millions of people unknowingly carry rare gene mutations that put them at high risk of developing preventable diseases such as colorectal cancer, breast cancer, and several catastrophic blood vessel disorders.

6 Mar 2013

AAP, ACMG release guidelines on best practices for genetic testing and screening of children

For the first time, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) spoke with one voice and released a set of recommendations and guidelines on best practices for genetic testing and screening of children.

5 Mar 2013

Newborn screening improves detection of lethal form of congenital adrenal hyperplasia (CAH) in girls as well as boys

Contrary to current belief, routine newborn screening improves the detection of the lethal form of congenital adrenal hyperplasia (CAH) in girls as well as boys, saving lives in both sexes, according to a unique study of CAH during the last 100 years published Online First in The Lancet Diabetes and Endocrinology.

27 Feb 2013

Children's Oakland CF Center wins 2012 Quality Care Award from Cystic Fibrosis Foundation

Children's Hospital & Research Center Oakland's Cystic Fibrosis Center was recently awarded the Cystic Fibrosis Foundation's 2012 Quality Care Award. This prestigious award recognizes cystic fibrosis (CF) centers committed to improving the quality of patient care and providing better health outcomes for people with the life-threatening genetic disease. Children's Hospital Oakland was among 4 out of 22 centers in the country to receive the CF Foundation's award.

27 Feb 2013

AHRQ, CMS announce new children's EHR format

The benefits of electronic health records (EHRs) may become more widely available to children through an EHR format for children's health care announced today by the U.S. Department of Health and Human Services' Agency for Healthcare Research and Quality (AHRQ) and Centers for Medicare & Medicaid Services (CMS).

10 Feb 2013

NIH stresses importance of genomics in nursing care in medical literature

On April 14, 2003 a map of the human genome was completed, ushering in a new era of genetics in medicine with applications that include genetic testing; newborn screening; susceptibility to diseases such as cancer, cardiovascular disease, or psychiatric conditions; screening, diagnosis and monitoring of disease; and treatment planning.

1 Feb 2013

UMass Medical School to assist New Hampshire's Disproportionate Share Hospital program

The New Hampshire Department of Health and Human Services has awarded a three-year contract to UMass Medical School to assist with New Hampshire's Disproportionate Share Hospital program.

15 Dec 2012

Destruction of newborn screening left over samples may be detrimental to medical research

The tremendous potential public health benefits of research with blood samples left over after routine newborn screening must not be lost amidst controversy and litigation, say medical and bioethics experts in a commentary published in the journal Science Translational Medicine.

8 Nov 2012

NBSTRN develops new tool for newborn screening researchers

After one-and-a-half years of intense development, end-user testing, a successful pilot, and through a contract to the American College of Medical Genetics and Genomics (ACMG) from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the Newborn Screening Translational Research Network (NBSTRN) Coordinating Center has developed a centralized, web-based virtual repository of newborn dried blood spots (DBS) as an indispensable tool for newborn screening researchers.

27 Sep 2012

Excess maternal iodine supplementation can lead to congenital hypothyroidism in infants

Congenital hypothyroidism is thyroid hormone deficiency at birth that, if left untreated, can lead to neurocognitive impairments in infants and children. Although the World Health Organization recommends 200-300 -g of iodine daily during pregnancy for normal fetal thyroid hormone production and neurocognitive development, the US Institute of Medicine considers 1,100 -g to be the safe upper limit for daily ingestion.

26 Jul 2012