Noonan Syndrome News and Research

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Noonan Syndrome (NS) is a relatively common congenital genetic condition that affects both males and females equally.

Researchers find new drug compound that treats laboratory mice with congenital heart disease

Congenital heart disease is the most common form of birth defect, affecting one out of every 125 babies, according to the National Institutes of Health. Researchers from the University of Missouri recently found success using a drug to treat laboratory mice with one form of congenital heart disease, hypertrophic cardiomyopathy - a weakening of the heart caused by abnormally thick muscle.

23 Feb 2014

USC scientists unlock mystery of why new cases of Noonan Syndrome are so common

Scientists at USC have unlocked the mystery of why new cases of the genetic disease Noonan Syndrome are so common: a mutation that causes the disease disproportionately increases a normal father's production of sperm carrying the disease trait.

10 Jun 2013

Excessive ERK activation underlies lymphatic defects in RASopathies

The RAS pathway is a cellular signaling pathway that regulates growth and development in humans. RASopathies are a group of diseases characterized by defects in RAS signaling. Many patients with RASopathies present with defects in the lymphatic system, which removes excess fluid from tissues, absorbs fats from the digestive system, and transports immune cells.

11 Feb 2013

Researchers discover alternative mechanism for Ras protein activation

The protein Ras plays an important role in cellular growth control. Researchers have focused on the protein because mutations in its gene are found in more than 30 percent of all cancers, making it the most prevalent human oncogene.

28 Nov 2012

PD0325901 drug may hold potential to prevent neurofibromatosis 1 in children

A drug originally developed to stop cancerous tumors may hold the potential to prevent abnormal brain cell growth and learning disabilities in some children, if they can be diagnosed early enough, a new animal study suggests.

31 Aug 2012

Researchers discover how SHP-2 genetic defect may result in heart malformation

UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations in a gene called SHP-2 distort the shape of cardiac muscle cells so they are unable to form a fully functioning heart.

7 Feb 2012

Mutated cancer pathway studies identify therapeutic targets for congenital heart disease

Cross-disciplinary teams of scientists studying genetic pathways that are mutated in many forms of cancer, but which also cause certain forms of congenital heart disease - including hypertrophic cardiomyopathy, a thickening of the heart muscle that is the leading cause of sudden death in children and young adults -, have introduced these mutations into mice and successfully treated HCM in the lab.

22 Feb 2011

New study: Rapamycin reverses cardiac muscle damage in LEOPARD syndrome mouse model

Congenital heart diseases affect approximately one in 100 patients, making them the most common type of birth defect and the number-one cause of pediatric deaths.

21 Feb 2011

Researchers discover single genetic mutation that accounts for disease

By inspecting the sequence of all 3 billion "letters" that make up the genome of a single person affected with a rare, inherited disorder, a Johns Hopkins and Duke University team ferreted out the single genetic mutation that accounts for the disease.

13 Jul 2010

Researchers differentiate human stem cells to become heart cells with cardiomyopathy

Researchers at Mount Sinai School of Medicine have for the first time differentiated human stem cells to become heart cells with cardiomyopathy, a condition in which the heart muscle cells are abnormal. The discovery will allow scientists to learn how those heart cells become diseased and from there, they can begin developing drug therapies to stop the disease from occurring or progressing. The study is published in the June 9th issue of Nature.

10 Jun 2010

NHLBI grant for identifying genetic and epigenetic causes of human congenital heart disease

Researchers at Children's Hospital Boston and Brigham and Women's Hospital have received funding from the National Heart, Lung, and Blood Institute (NHLBI) to support their search for undiscovered gene defects that cause congenital heart disease. The $4.19 million, 6-year grant is part of the Pediatric Cardiac Genomics Consortium (PCGC), which seeks to identify genetic and epigenetic causes of human congenital heart disease, and relate genetic variants present in the congenital heart disease patient population to clinical outcomes.

23 Dec 2009

TessArae introduces new integrated product solutions for testing human genetic disease

TessArae® LLC, a global leader in resequencing microarray-based applications, announces the launch of new integrated product solutions for genetic testing of the mutations that underlie human hereditary diseases. The combination of TessArae's expertise in microarray-based resequencing with novel nucleotide sequence basecalling algorithms and analysis software enables screening for all targeted mutations in multiple genes of a syndrome or disorder simultaneously.

10 Nov 2009

FDA approves Norditropin for short stature in children with Noonan syndrome

Novo Nordisk has announced that Norditropin (somatropin[rDNA origin] injection) received U.S. Food and Drug Administration (FDA) approval for the treatment of short stature in children with Noonan syndrome.

3 Jun 2007

New understanding of genetics behind Noonan Syndrome

Researchers have discovered that the genetic malfunction that causes a form of mental retardation called Noonan Syndrome (NS) produces an imbalance in the genesis of two types of cells in the developing embryonic brain.

19 Apr 2007