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.

Preclinical study demonstrates efficacy of gene therapy in treatment of Duchenne muscular dystrophy

Researchers from Genethon, the AFM-Telethon laboratory, Inserm (UMR 1089, Nantes) and the University of London (Royal Holloway) demonstrated the efficacy of an innovative gene therapy in the treatment of Duchenne muscular dystrophy.

25 Jul 2017

New tool can identify infants with tuberous sclerosis complex at increased risk of developing ASD

A tool intended to detect signs of autism in high-risk infants can be used to help identify and treat patients with tuberous sclerosis complex (TSC), a genetic disorder, who most need early intervention. Moreover, they can identify these patients earlier than ever before.

17 Jul 2017

Study links heart failure biomarker to tumors observed in rare genetic diseases

Galectin-3, a protein that promotes cancer cell growth and is used as a biomarker for heart failure, has been linked to tumors observed in two rare genetic diseases, according to a study published July 11, 2017, in eLife.

11 Jul 2017

Complete DNA sequencing should not be feared according to researchers

It is now much easier than before to do a complete DNA sequencing of patients to look at all the three billion letters that make up a person’s genetic code or genome. DNA sequencing prices have fallen and it could soon be a part of routine medical tests experts suggest. However there is public fear associated with complete sequencing. Researchers looked at the fact if this fear was actually justified.

26 Jun 2017

Preclinical data reinforces potential efficacy, durability of investigational gene therapy for DMD

Solid Biosciences announced today that new data from two preclinical studies reinforce the potential of its investigational microdystrophin gene therapy, SGT-001, to be an effective treatment approach for Duchenne muscular dystrophy.

11 May 2017

New clinical study aims to prevent onset of epilepsy in children with tuberous sclerosis

A clinical trial of a drug that researchers hope can prevent or delay the onset of epilepsy in children with tuberous sclerosis has begun at McGovern Medical School at The University of Texas Health Science Center at Houston.

8 May 2017

Study sheds light on neural mechanisms of Fragile X syndrome

A collaboration between scientists in Belgium, the United States, Norway, France and the UK has resulted in a study that sheds light on the neural mechanisms of Fragile X syndrome.

5 May 2017

Scientists discover potential trigger for MDS in children with rare genetic disorder

Myelodysplastic syndrome is an umbrella term used to describe disorders characterized by the bone marrow's inability to produce normal blood cells.

12 Apr 2017

Single dose of siRNA molecule offers protection against heart attack and stroke in high-risk patients

Even a single dose of a specific ribonucleic acid molecule, known as a small interfering RNA (siRNA), offers patients at high risk of cardiovascular disease long-lasting protection against high LDL cholesterol - one of the main risk factors for heart attack and stroke.

30 Mar 2017

Rare ‘beneficial’ genetic mutations may provide clues to preventing heart attacks

Natural genetic changes can put some people at high risk of certain conditions, such as breast cancer, Alzheimer's disease or high blood pressure. But in rare cases, genetic errors also can have the opposite effect, protecting individuals with these helpful genetic mistakes from developing common diseases.

30 Mar 2017

Scientists map three-dimensional structure of protein that causes cystic fibrosis

Scientists at The Rockefeller University have mapped the three-dimensional structure for one of the more notorious disease-causing molecules in the human body: the protein responsible for the genetic disorder cystic fibrosis. And it looks fishy.

23 Mar 2017

USC study close to finding gene involved in cleft lip and palate

A group of researchers has found that three siblings born with cleft lip and palate share a common gene mutation associated with the birth defect.

22 Mar 2017

World's first licence for mitochondrial donation IVF may enable women to have disease-free babies

Eminent UK reproductive and genetics experts have become the first in the world licensed to provide a revolutionary IVF procedure using donor DNA – which they spent decades developing – enabling women carrying potentially fatal mitochondrial disease to have healthy, genetically-related babies.

20 Mar 2017

Defect in non-coding DNA could give rise to language impairments in children

The human genome is made up of ~3 billion letters of DNA and at each position it is possible to have different letters, called variants. Some variants are harmless but others can be detrimental, making it a mammoth task to find out which variants cause a disorder.

14 Mar 2017

Researchers discover genetic bases of Opitz C syndrome

Opitz C syndrome is a genetic disease that causes severe disabilities in patients and has been diagnosed in three people in the Iberian Peninsula, and sixty people in the world.

10 Mar 2017

Researchers identify new gene that can lead to sudden death among young people

Researchers from Canada, South Africa and Italy have identified a new gene that can lead to sudden death among young people and athletes.

10 Mar 2017

Early treatment with heart failure drug can improve cardiac function in young boys with DMD

Researchers at The Ohio State University Ross Heart Hospital and Nationwide Children's Hospital have shown early treatment with the heart failure medication eplerenone can improve heart function in young boys with Duchenne muscular dystrophy (DMD) and stabilize heart function in older boys with the disease.

7 Mar 2017

Genetic Disorder News and Research

Further Reading

Preclinical study demonstrates efficacy of gene therapy in treatment of Duchenne muscular dystrophy

New tool can identify infants with tuberous sclerosis complex at increased risk of developing ASD

Study links heart failure biomarker to tumors observed in rare genetic diseases

Complete DNA sequencing should not be feared according to researchers

Preclinical data reinforces potential efficacy, durability of investigational gene therapy for DMD

New clinical study aims to prevent onset of epilepsy in children with tuberous sclerosis

Study sheds light on neural mechanisms of Fragile X syndrome

Scientists discover potential trigger for MDS in children with rare genetic disorder

Single dose of siRNA molecule offers protection against heart attack and stroke in high-risk patients

Rare ‘beneficial’ genetic mutations may provide clues to preventing heart attacks

Scientists map three-dimensional structure of protein that causes cystic fibrosis

USC study close to finding gene involved in cleft lip and palate

World's first licence for mitochondrial donation IVF may enable women to have disease-free babies

Defect in non-coding DNA could give rise to language impairments in children

Researchers discover genetic bases of Opitz C syndrome

Researchers identify new gene that can lead to sudden death among young people

Early treatment with heart failure drug can improve cardiac function in young boys with DMD

Cholesterol-processing enzyme could be therapeutic target to stave off neurologic diseases

Researchers develop improved method for using graphene-based transistors to detect harmful genes

Researchers discover rare deafness-dystonia syndrome in a family in Pakistan

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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