Newborn Screening News and Research

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Study emphasizes benefits of newborn screening for CF patients

A new study led by a team from the Research Institute of the McGill University Health Centre and Cystic Fibrosis Canada reinforces the benefits of newborn screening for cystic fibrosis (CF) patients.

5 May 2016

Pediatric researchers uncover new syndrome that causes intellectual disability

Pediatric researchers, using high-speed DNA sequencing tools, have identified a new syndrome that causes intellectual disability (ID). Drawing on knowledge of the causative gene mutation, the scientists' cell studies suggest that an amino acid supplement may offer a targeted treatment for children with this condition.

5 Apr 2016

Enhanced diet helps slow progression of hereditary deafness

An enhanced diet helped reduce hearing loss in mice with the genetic mutation most commonly responsible for childhood deafness, new research suggests.

11 Mar 2016

Three Case Western faculty members receive funding to develop new diagnostic technologies

Three Case Western Reserve University faculty members have received funding to further develop emerging technologies aimed at malaria, cystic fibrosis, and sickle cell anemia.

29 Jan 2016

Metabolic profile derived from routine newborn screenings could determine infant's gestational age

Knowing if an infant was born on time or prematurely can make all the difference in deciding what medical care the baby needs.

22 Jan 2016

New tests could improve diagnosis of two rare childhood diseases

For the first time, researchers have developed tests that could improve the diagnosis of two rare childhood diseases known as congenital disorders of glycosylation (CDGs) and metachromatic leukodystrophy, and that could even lead to new treatments for CDGs.

5 Jan 2016

New study finds a reason for ethnic disparity in CF diagnoses

Cystic fibrosis (CF) occurs less frequently in nonwhites than in whites, and nonwhites tend to be diagnosed at a later age. This late diagnosis often comes only once they have become symptomatic, rather than through newborn screening programs or molecular diagnostic testing.

16 Dec 2015

New technology may facilitate early detection of sickle cell disease for infants in developing countries

Researchers from Seidman Cancer Center at University Hospitals Case Medical Center and Case Western Reserve University School of Medicine presented new research findings this weekend at the 57th Annual Meeting of the American Society of Hematology in Orlando.

8 Dec 2015

NORD launches first-ever State Progress Report on rare disease treatment

With patient access to health care becoming increasingly dependent upon state policies, the National Organization for Rare Disorders has developed and released the first-ever State Progress Report to evaluate how states are serving the 30 million Americans with rare diseases.

26 Oct 2015

‘Medical foods’ for patients with rare IEMs may cause harm when not carefully managed

Many "medical foods" are designed to help manage patients with rare inborn errors of metabolism (IEMs), and can help prevent serious and life-threatening complications. However, such special foods may cause harm in some patients when their use is not carefully monitored and managed, according to a research team led by scientists at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health.

14 Aug 2015

High-frequency tympanometry testing can help identify middle-ear problems in newborn babies

Screening newborn babies who are in the neonatal intensive care unit (NICU) using a testing process called high-frequency tympanometry can help identify middle-ear problems earlier, according to newly published research from a local team of researchers.

10 Jul 2015

DTC genetic testing has negative consequences in children

A woman coping with the burden of familial breast cancer can't help but wonder if her young daughter will suffer the same fate. Has she inherited the same disease-causing mutation? Is it best to be prepared for the future, or to wait? During the last decade, genetic tests have been through a sea change, both in their availability and the technologies behind them. Today there are at least 34 companies that offer direct to consumer (DTC) DNA testing, some of which return health results. And now it is possible to sequence someone's entire genetic code for the price of a laptop.

3 Jul 2015

R. Rodney Howell receives ASHG’s annual Advocacy Award

The American Society of Human Genetics (ASHG) has named R. Rodney Howell, MD, Professor in the Department of Pediatrics, Chairman Emeritus of Pediatrics, and Member of the Hussman Institute for Human Genomics, at the University of Miami Leonard M. Miller School of Medicine, as the first recipient of its new, annual Advocacy Award.

1 Jul 2015

Study shows cystic fibrosis is more deadly for Hispanic than non-Hispanic patients

Cystic fibrosis is more deadly for Hispanic than non-Hispanic patients, a disparity that is not explained by differences in their access to health care, according to a new study from the Stanford University School of Medicine.

25 Jun 2015

International researchers identify previously unknown genetic immunodeficiency

An analysis of five families has revealed a previously unknown genetic immunodeficiency, says an international team led by researchers from Boston Children's Hospital. The condition, linked to mutations in a gene called DOCK2, deactivates many features of the immune system and leaves affected children open to a unique pattern of aggressive, potentially fatal infections early in life.

19 Jun 2015

AACC receives three 2015 Hermes Creative Awards

AACC, a global scientific and medical professional organization dedicated to better health through laboratory medicine, is pleased to announce that it has received three 2015 Hermes Creative Awards. These awards recognize the association for the exceptional writing and design of its news publications and website, which help laboratory medicine professionals worldwide stay informed about important issues in the field and find solutions to challenging patient health problems.

20 May 2015

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

A team of Canadian and Japanese researchers has identified the genetic mutation responsible for glycogen storage disease type IIIa in Inuit in northern Quebec, Canada, in a study published in CMAJ (Canadian Medical Association Journal).

20 Jan 2015

Couple renews multi-million dollar commitment to screen newborn babies for SCID disorders

Frustrated with the slow pace of implementation of Newborn Screening for Severe Combined Immune Deficiency (SCID), Vicki and Fred Modell renewed a multi-million dollar commitment to screen every baby born in every state for this life threatening condition, often referred to as "Bubble Boy" disease.

21 Oct 2014

Pitt researchers awarded $11.8 million NIH grant to explore genetic roots of cleft lip, palate

Researchers at the University of Pittsburgh School of Dental Medicine have been awarded a $11.8 million, five-year grant from the National Institute of Dental and Craniofacial Research, part of the National Institutes of Health, to continue their exploration of the genetic roots of cleft lip and cleft palate and to expand the effort to include populations in Colombia, Nigeria, the Philippines and Pennsylvania.

30 Sep 2014

Newborn screening can prevent lifelong disability

When your baby was born you likely heard a loud cry and examined your baby to make sure he/she had a full set of adorable fingers and toes. But just imagine a few days after you arrive home, your phone rings: your baby has screened positive for a genetic disorder.

24 Sep 2014