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.

Vosoritide's first phase 2 study shows increased growth in children with hypochondroplasia

Vosoritide's first global phase 2 study showed an average increased growth rate of 1.8 cm per year in children with hypochondroplasia, a genetic cause of short stature in children, according to researchers from Children's National Hospital.

13 Apr 2024

AI algorithms for rare disease diagnosis ignore the genetic, morphological diversity of humans

Up to 40% of rare diseases show facial alterations that enable researchers to identify some pathologies and they can even help them to establish an early diagnosis.

10 May 2023

Advanced DNA sequencing technique reveals the reason for COVID-19 related sudden child mortality

Sudden, unexplained child mortality is a tragedy; determining the cause of death is important for improving healthcare and providing loved ones with closure.

27 Apr 2023

Researchers develop a method for making “mini-heart” using pluripotent stem cells

A team at the Technical University of Munich has induced stem cells to emulate the development of the human heart.

5 Apr 2023

Researchers develop a machine learning-based screening tool for genetic syndromes in children

With an average accuracy of 88%, a deep learning technology offers rapid genetic screening that could accelerate the diagnosis of genetic syndromes, recommending further investigation or referral to a specialist in seconds, according to a study published in The Lancet Digital Health.

2 Sep 2021

Infantile sudden death associated with a de novo genetic mutation in the SOS1 gene

A previously healthy infant who suffered aborted sudden cardiac death was found to have a de novo genetic mutation in the SOS1 gene.

17 Aug 2021

Study finds promising new treatment for infants with Noonan Syndrome

Noonan Syndrome is a rare genetic syndrome typically evident at birth and often linked to early-onset severe heart disease.

30 Apr 2019

Research reviews role of protein tyrosine phosphatase in molecular biology

As the proteomics technology develops and human genomic analysis becomes easier to execute, molecules involved in the regulation of biochemical signaling pathways have become interesting subjects for researchers.

28 Dec 2018

Study uncovers new mechanism controlling the master cancer regulator

Of the more than 23,000 genes in the human genome, only a handful assume a very central role in signal transduction and growth regulation. Of these, the three genes encoding RAS proteins are particularly important, as they are found mutated in over 25% of human cancers.

20 Nov 2018

Researchers identify LZTR1 as evolutionarily conserved component of RAS pathway

Mutations in RAS proteins initiate many of the most aggressive tumors, and the search for pharmacological inhibitors of these proteins has become a priority in the battle against cancer. Michail Steklov, Francesca Baietti, and colleagues from the Anna Sablina lab identified LZTR1 as an evolutionarily conserved component of the RAS pathway.

16 Nov 2018

Protein researchers identify several new potential targets for cancer

In a new study based on mouse cells internationally leading protein researchers have identified several new potential targets using state-of-the-art technology, many of which could be employed for future treatment of different types of cancers and diseases.

14 May 2018

Alex’s experiences of living with rare genetic disease

In this video, meet participant Alexander Masterson and his mum, Kirsty, who speak about what getting a diagnosis from the 100,000 Genomes Project means to them.

From Genomics England 20 Mar 2018

NHGRI researchers use facial recognition software to diagnose rare genetic disease

Researchers with the National Human Genome Research Institute, part of the National Institutes of Health, and their collaborators, have successfully used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans.

24 Mar 2017

New stem-cell model of heart tissue unravels mechanisms linked to hypertrophic cardiomyopathy

Using advanced stem cell technology, scientists from the Icahn School of Medicine at Mount Sinai have created a model of a heart condition called hypertrophic cardiomyopathy (HCM) — an excessive thickening of the heart that is associated with a number of rare and common illnesses, some of which have a strong genetic component.

31 Aug 2016

Study identifies genetic mutations responsible for development of cardiac hypertrophy in adults

Investigators at Beth Israel Deaconess Medical Center have identified a developmental cause of adult-onset cardiac hypertrophy, a dangerous thickening of the heart muscle that can lead to heart failure and death.

8 Jul 2016

Study shows inhibition of SHP-2 enzyme can diminish lupus symptoms

Researchers at Beth Israel Deaconess Medical Center have identified an enzyme that is significantly elevated in mouse models of systemic lupus erythematosus and in blood samples of patients with lupus.

17 May 2016

UAB lab to offer new tests for genetic diseases using next-generation sequencing

The Medical Genomics Laboratory at the University of Alabama at Birmingham is expanding its technological array with a new panel of diagnostic tests for genetic diseases known as neurofibromatoses and rasopathies. Beginning April 18, the UAB lab will offer new tests using the technique called customized deep-coverage, next-generation sequencing or NGS.

18 Apr 2016

Scientists engineer stem cells to better understand mechanisms behind leukemia

Scientists engineered stem cells to better understand the mechanisms behind a form of leukemia caused by changes in a key gene, according to a study led by Mount Sinai researchers and published online today in the journal Cell Reports.

9 Oct 2015

Researchers develop mouse model that reproduces most typical features of Noonan syndrome

Noonan syndrome is a rare disease that is characterised by a set of pathologies, including heart, facial and skeletal alterations, pulmonary stenosis, short stature, and a greater incidence of haematological problems (mainly juvenile myeloid leukaemia, or childhood leukaemia).

6 Nov 2014

Medical geneticists diagnose genetic syndromes, improve children’s quality of life

The genes children inherit determine everything from their height to their hair color. But sometimes, a child's genetic code also contains hidden abnormalities that can cause an array of health issues, such as developmental delays or physical or mental illness.

13 Oct 2014