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.

Researchers successfully use CRISPR to treat adult mouse model of Duchenne muscular dystrophy

Researchers have used CRISPR to treat an adult mouse model of Duchenne muscular dystrophy. This marks the first time that CRISPR has successfully treated a genetic disease inside a fully developed living mammal with a strategy that has the potential to be translated to human therapy.

4 Jan 2016

3D maps of spatial organization may help find genes involved in hereditary diseases

It has now been 15 years since scientists celebrated the completion of the human genome. At that point, scientists had determined the entire sequence of the genetic letters making up our DNA.

26 Dec 2015

New $8.5M research grant aims to address patients affected by severe hemophilia A

People with hemophilia have prolonged abnormal bleeding as a result of trauma. Hemophilia A, also called factor VIII (FVIII) deficiency, is the most common form of the genetic disorder caused by missing or defective blood clotting protein called factor VIII.

23 Dec 2015

New study reveals why some vestibular schwannomas cause hearing loss

A new study at Massachusetts Eye and Ear showed that in some cases of vestibular schwannoma, a sometimes-lethal tumor often associated with neurofibromatosis 2 (NF2), secretions from the tumor contain toxic molecules that damage the inner ear.

23 Dec 2015

Case Western scientist to lead a pair of studies to develop more effective treatment for CF

A scientist at Case Western Reserve University Frances Payne Bolton School of Nursing will lead a pair of studies to develop more effective treatment for symptoms of cystic fibrosis (CF), a life-threatening genetic disease that causes persistent lung infections and progressively limits the ability to breathe.

18 Dec 2015

Report uncovers how Down syndrome hampers nervous system that plays key role in health, longevity

While most Down syndrome research has focused on the brain, a new report by Johns Hopkins University biologists uncovers how the disorder hampers a separate part of the nervous system that plays a key role in health and longevity.

14 Dec 2015

Commercialization of health and beauty can lead to Angelina Jolie syndrome

The politicization and commercialization of health issues in today's Western culture have led to growing healthism -- a peremptory idea of self-preserving behaviour. This approach criticizes everything that fails to fit into the glamorous standards of a beautiful, young and slim body.

13 Dec 2015

CRISPR/Cas9 turns hPSCs into cell-based lab model system for polycystic kidney disease

CRISPR/Cas9 is hot. News of the revolutionary gene editing technique that is already shaking up bioscience has finally reached the news media and the public. Now comes a first rate example of how CRISPR is changing the pace of biomedical research by linking up with another cutting edge technology -- human pluripotent stem cells (hPSCs).

12 Dec 2015

ASU-led researchers add new worldwide resource to explore genes' deep and hidden messages

After a decade-long $3 billion international effort, scientists heralded the 2001 completion of the human genome as a moon landing achievement for biology and the key to finally solving intractable diseases like cancer.

12 Dec 2015

New biobank initiative may help unlock some of the mysteries linked to Down syndrome

Nationwide Children's Hospital and research advocacy group DownSyndrome Achieves have joined forces to create the first biobank in the country dedicated to collecting and managing blood samples from people with Down syndrome.

12 Dec 2015

Sex differences in the brain may provide clues to why certain forms of autism more common in males

Many early-onset neurodevelopmental disorders, including autism spectrum disorders, are more common in males than females. The origin of this gender bias is not understood, partially due to a major gap in research on sex differences regarding how the brain typically develops.

11 Dec 2015

Flagship launches Rubius to develop functionalized red blood cells for treatment of serious diseases

Flagship Ventures, a leading innovation and venture firm focused on healthcare and sustainability, announced it has launched Rubius Therapeutics, to develop functionalized red blood cells for the treatment of autoimmune conditions, metabolic diseases, cancer, and other serious diseases.

9 Dec 2015

Kanuma approved as first treatment for patients with LAL deficiency

Today, the U.S. Food and Drug Administration approved Kanuma (sebelipase alfa) as the first treatment for patients with a rare disease known as lysosomal acid lipase (LAL) deficiency.

8 Dec 2015

Existing compound offers hope for slowing Huntington's disease progression

Currently, there is no treatment to halt the progression of Huntington's disease (HD), a fatal genetic disorder that slowly robs sufferers of their physical and mental abilities. Now, researchers at University of California, San Diego School of Medicine have discovered that an existing compound, previously tested for diabetes, offers hope for slowing HD and its symptoms.

8 Dec 2015

Experimental gene therapy may improve health outcomes for patients with some forms of blood disorders

New research adds to a growing body of evidence that gene therapy, an experimental technique that involves correcting or replacing a person's mutated or malfunctioning genes, may improve health outcomes for patients with inherited bleeding and immune disorders as well as some forms of blood cancer.

7 Dec 2015

Neoadjuvant chemotherapy can stimulate evolution of breast cancer tumor

Russian scientists have found that neoadjuvant chemotherapy in patients with breast cancer can stimulate evolution of the tumor. The results of the research conducted by Nicholay Litvyakov, D.Sc. at Cancer Research Institute, Head of the Tumor Virology Laboratory, and TSU researcher Marina Ibragimova, were published in "Siberian Journal of Oncology."

1 Dec 2015

Green Cross' Biologics License Application for IVIG-SN submitted to FDA

Green Cross Corporation, a South Korean biopharmaceutical company, today announced that it has submitted its Biologics License Application for IVIG-SN (human normal immunoglobulin G for intravenous administration) to the United States Food and Drug Administration.

24 Nov 2015

U of T researchers discover mysterious fungus that defends against neighbouring bacteria

Researchers at the University of Toronto examined fungi in the mucus of patients with cystic fibrosis and discovered how one particularly cunning fungal species has evolved to defend itself against neighbouring bacteria.

21 Nov 2015

MCG researchers explore how neurofibromatosis puts young patients at risk for cardiovascular disease

It's a fairly common genetic condition that can surface as a series of dark skin spots and result in a host of maladies from tumors to premature cardiovascular disease. Medical College of Georgia researchers hope their studies of how neurofibromatosis 1, or NF1, can dangerously thicken or thin blood vessel walls will one day help physicians better identify and treat these young patients at cardiovascular risk.

20 Nov 2015

Urine-derived iPSCs model could help predict patient response to cholesterol-lowering drugs

We all know how important it is to keep our levels of blood cholesterol - especially the 'bad' variety - in check with a healthy diet and regular exercise. Although cholesterol is a key structural component of cell membranes and is vital for the biosynthesis of certain hormones and vitamins, high levels can lead to the formation of arterial plaques, which are a major risk factor for coronary heart disease.

20 Nov 2015

Genetic Disorder News and Research

Further Reading

Researchers successfully use CRISPR to treat adult mouse model of Duchenne muscular dystrophy

3D maps of spatial organization may help find genes involved in hereditary diseases

New $8.5M research grant aims to address patients affected by severe hemophilia A

New study reveals why some vestibular schwannomas cause hearing loss

Case Western scientist to lead a pair of studies to develop more effective treatment for CF

Report uncovers how Down syndrome hampers nervous system that plays key role in health, longevity

Commercialization of health and beauty can lead to Angelina Jolie syndrome

CRISPR/Cas9 turns hPSCs into cell-based lab model system for polycystic kidney disease

ASU-led researchers add new worldwide resource to explore genes' deep and hidden messages

New biobank initiative may help unlock some of the mysteries linked to Down syndrome

Sex differences in the brain may provide clues to why certain forms of autism more common in males

Flagship launches Rubius to develop functionalized red blood cells for treatment of serious diseases

Kanuma approved as first treatment for patients with LAL deficiency

Existing compound offers hope for slowing Huntington's disease progression

Experimental gene therapy may improve health outcomes for patients with some forms of blood disorders

Neoadjuvant chemotherapy can stimulate evolution of breast cancer tumor

Green Cross' Biologics License Application for IVIG-SN submitted to FDA

U of T researchers discover mysterious fungus that defends against neighbouring bacteria

MCG researchers explore how neurofibromatosis puts young patients at risk for cardiovascular disease

Urine-derived iPSCs model could help predict patient response to cholesterol-lowering drugs

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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