Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

Sarepta Therapeutics wins accelerated approval from FDA for Duchenne muscular dystrophy drug

The U.S. Food and Drug Administration today approved Exondys 51 (eteplirsen) injection, the first drug approved to treat patients with Duchenne muscular dystrophy (DMD).

19 Sep 2016

New study identifies potential therapeutic option for treatment of Huntington's disease

A new scientific study reveals one way to stop proteins from triggering an energy failure inside nerve cells during Huntington's disease. Huntington's disease is an inherited genetic disorder caused by mutations in the gene that encodes huntingtin protein.

14 Sep 2016

Research offers new insights into underlying mechanisms of deadly cystic fibrosis

A minor hiccup in the sequence of a human gene can have devastating impacts on health. Such flaws cause cystic fibrosis (CF), a disease affecting the lungs and other vital organs, often leading to death by the age of 30.

9 Sep 2016

New treatment reduces activity of Huntington's disease gene for several months in mice

A single injection of a new treatment has reduced the activity of the gene responsible for Huntington's disease for several months in a trial in mice.

9 Sep 2016

Interactions between rare and common genetic variants may contribute to craniosynostosis

During the first year of life, the human brain doubles in size, and continues growing through adolescence.

8 Sep 2016

Experimental co-culture approach facilitates study of cellular events underlying Huntington's disease

Using an experimental co-culture approach in which two different types of neurons from a mouse model of Huntington's disease (HD) are grown side-by-side, connecting to form critically impacted circuits, researchers at University of California San Diego School of Medicine have identified a subunit of a protein that, when expressed, reverse the mutated gene effects responsible for HD.

6 Sep 2016

Research aims to understand how cell designs length, pattern of heparan sulphate chains

Heparan sulphate occurs as carbohydrate chains which are very important for human body cells both for normal foetal development and during the course of various diseases.

2 Sep 2016

Genetic vulnerability, exposure to ultrasound may predispose to increased autism severity

For children with autism and a class of genetic disorders, exposure to diagnostic ultrasound in the first trimester of pregnancy is linked to increased autism severity, according to a study by researchers at UW Medicine, UW Bothell and Seattle Children's Research Institute.

1 Sep 2016

Research sheds new light on how human organ systems develop

For the first time, the precise way individual human organs and tissue develop has been mapped - providing new insight into how genetic disorders can occur during the crucial early phase of development.

1 Sep 2016

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

Novel drug delivery system may offer new hope for patients with rare fatal genetic disorder

Researchers at Oregon State University and other institutions have discovered a type of drug delivery system that may offer new hope for patients with a rare, ultimately fatal genetic disorder - and make what might become a terrible choice a little easier.

30 Aug 2016

Basic cell biology research into neurodegeneration may fuel understanding of neurodegenerative diseases

Clinical trials and translational medicine have certainly given people hope and rapid pathways to cures for some of mankind's most troublesome diseases, but now is not the time to overlook the power of basic research, says UC Santa Barbara neuroscientist Kenneth S. Kosik.

27 Aug 2016

Study examines psychological impact of tumor gene testing in subset of NCI-MATCH patients

The ECOG-ACRIN Cancer Research Group has received federal approval to add a quality-of-life research study, COMmunication and Education in Tumor Profiling (EAQ152) or 'COMET' to the NCI-MATCH (EAY131) trial, already underway.

19 Aug 2016

Unexplained neurodevelopmental disorder linked to harmful mutations in SON gene

A neurodevelopmental disorder for which there was no known cause has been linked to SON, a gene that is involved in essential mechanisms a cell uses to translate DNA into protein, as well as in DNA replication and cell division.

18 Aug 2016

New research article reveals global patterns of genetic variation

Published in today's edition of Nature, the research led by Dr Monkol Lek of the University of Sydney and Dr Daniel MacArthur of The Broad Institute of MIT and Harvard Universities reveals patterns of genetic variation worldwide by sequencing the exomes of 60,706 individuals with diverse geographic ancestries, including European, African, South Asian, East Asian and Latino populations.

18 Aug 2016

Scientists find way to boost efficiency with which CRISPR-Cas9 cuts and disables genes

CRISPR-Cas9 is the go-to technique for knocking out genes in human cell lines to discover what the genes do, but the efficiency with which it disables genes can vary immensely.

18 Aug 2016

MGH investigators discover key molecules essential for sensing proteasome dysfunction

Maintaining appropriate levels of proteins within cells largely relies on a cellular component called the proteasome, which degrades unneeded or defective proteins to recycle the components for the eventual assembly of new proteins.

16 Aug 2016

Long-term impacts of atomic bombs on Japanese cities not as severe as many believe, study suggests

The detonation of atomic bombs over the Japanese cities of Hiroshima and Nagasaki in August 1945 resulted in horrific casualties and devastation. The long-term effects of radiation exposure also increased cancer rates in the survivors.

12 Aug 2016

First investigational treatment for infantile-onset SMA shows promising results in clinical trial

A major milestone was reached when nusinersen, an investigational treatment for spinal muscular atrophy (SMA), was shown to significantly improve achievement of motor milestones in babies with infantile-onset SMA, according to an interim analysis of the double-blind, randomized, placebo controlled Phase 3 clinical trial called ENDEAR.

11 Aug 2016

New model of Williams syndrome may shed light on neurobiology of the human social brain

In a study spanning molecular genetics, stem cells and the sciences of both brain and behavior, researchers at University of California San Diego, with colleagues at the Salk Institute for Biological Studies and elsewhere, have created a neurodevelopmental model of a rare genetic disorder that may provide new insights into the underlying neurobiology of the human social brain.

11 Aug 2016

Genetic Disorder News and Research

Further Reading

Sarepta Therapeutics wins accelerated approval from FDA for Duchenne muscular dystrophy drug

New study identifies potential therapeutic option for treatment of Huntington's disease

Research offers new insights into underlying mechanisms of deadly cystic fibrosis

New treatment reduces activity of Huntington's disease gene for several months in mice

Interactions between rare and common genetic variants may contribute to craniosynostosis

Experimental co-culture approach facilitates study of cellular events underlying Huntington's disease

Research aims to understand how cell designs length, pattern of heparan sulphate chains

Genetic vulnerability, exposure to ultrasound may predispose to increased autism severity

Research sheds new light on how human organ systems develop

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

Novel drug delivery system may offer new hope for patients with rare fatal genetic disorder

Basic cell biology research into neurodegeneration may fuel understanding of neurodegenerative diseases

Study examines psychological impact of tumor gene testing in subset of NCI-MATCH patients

Unexplained neurodevelopmental disorder linked to harmful mutations in SON gene

New research article reveals global patterns of genetic variation

Scientists find way to boost efficiency with which CRISPR-Cas9 cuts and disables genes

MGH investigators discover key molecules essential for sensing proteasome dysfunction

Long-term impacts of atomic bombs on Japanese cities not as severe as many believe, study suggests

First investigational treatment for infantile-onset SMA shows promising results in clinical trial

New model of Williams syndrome may shed light on neurobiology of the human social brain

Genetics & Genomics - Second Edition eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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