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.

Leading medical experts across the UK call for radical scale up of liver disease treatment

Leading medical experts today [Thursday 27 November] warn that rising numbers of deaths from liver disease - already the UK's third commonest cause of premature death - will be unavoidable without radical improvements in treatment and detection services, and tougher government policies to control the excessive alcohol use and obesity responsible for much of the national burden of liver disease.

27 Nov 2014

PPMD, Santhera Pharmaceuticals collaborate to study Duchenne muscular dystrophy

Parent Project Muscular Dystrophy, the leading advocacy organization working to end Duchenne muscular dystrophy (Duchenne) and Santhera Pharmaceuticals, a Swiss specialty pharmaceutical company focusing on the development and marketing of innovative pharmaceutical products for the treatment of mitochondrial and neuromuscular diseases, will collaborate on a benefit/risk study in Duchenne.

25 Nov 2014

Apitope's ATX-F8-117 granted orphan medicinal product designation for treatment of haemophilia A

Apitope, the drug discovery and development company focused on disease-modifying treatments for patients with autoimmune and allergic diseases, announced today that the European Medicines Agency Committee for Orphan Medicinal Products has granted orphan medicinal product designation to ATX-F8-117 for the treatment of haemophilia A.

25 Nov 2014

Clementia gets Orphan Medicinal Product Designation from EMA for palovarotene

Clementia Pharmaceuticals, Inc. announced today that the European Medicines Agency (EMA) has granted Orphan Medicinal Product Designation for palovarotene, the company's lead product candidate, for the treatment of fibrodysplasia ossificans progressiva (FOP).

21 Nov 2014

New treatment for Marfan syndrome works as well as beta blockers

A new treatment for Marfan syndrome, a rare genetic disease that can lead to heart problems, works as well as the currently recommended medical therapy, beta blockers, according to an article in the New England Journal of Medicine.

21 Nov 2014

TSRI study examines body’s own response against chronic protein misfolding

“Protein misfolding” diseases such as cystic fibrosis and Alzheimer’s may be seriously exacerbated by the body’s own response against that misfolding, according to a new study led by scientists at The Scripps Research Institute.

20 Nov 2014

NIH study finds limited kidney benefit from more rigorous blood pressure treatment

Using two drugs was no more effective than a single drug in slowing disease progression in people with autosomal dominant polycystic kidney disease (ADPKD), according to two studies funded by the National Institutes of Health. One of the studies also showed that rigorous blood pressure treatment slowed growth of kidney cysts, a marker of ADPKD, but had little effect on kidney function compared to standard blood pressure treatment.

17 Nov 2014

Research finding could lead to new therapies for preventing growth of plexiform neurofibromas

UT Southwestern Medical Center researchers have determined the specific type of cell that gives rise to large, disfiguring tumors called plexiform neurofibromas, a finding that could lead to new therapies for preventing growth of these tumors.

11 Nov 2014

Scientists develop new system to treat a host of genetic conditions

As potential next-generation therapeutics and research tools, few life sciences technologies hold more promise than genome-editing proteins – molecules that can be programmed to alter specific genes in order to treat or even cure genetic diseases.

31 Oct 2014

Genetic differences contribute to risk for autism

Small differences in as many as a thousand genes contribute to risk for autism, according to a study led by Mount Sinai researchers and the Autism Sequencing Consortium, and published today in the journal Nature.

29 Oct 2014

Clementia initiates Phase 2 extension study of palovarotene in FOP patients

Clementia Pharmaceuticals, Inc. announced today the initiation of a Phase 2 extension study of palovarotene in patients with fibrodysplasia ossificans progressiva (FOP), a rare, severely disabling genetic disease characterized by painful, recurrent episodes of soft tissue swelling (flare-ups) and new abnormal bone formation.

27 Oct 2014

Vanda reports total revenues of $14.8 million for third quarter 2014

Vanda Pharmaceuticals Inc., today announced financial and operational results for the third quarter ended September 30, 2014.

27 Oct 2014

High risk for congenital heart defects in Down syndrome provides tool to identify changes in genes

Down syndrome is the most common chromosomal abnormality in humans, involving a third copy of all or part of chromosome 21. In addition to intellectual disability, individuals with Down syndrome have a high risk of congenital heart defects. However, not all people with Down syndrome have them – about half have structurally normal hearts.

25 Oct 2014

Early access program for human chromosome mapping analytical service announced by Hitachi High-Technologies Corporation and OpGen

Hitachi High-Technologies Corporation and OpGen, Inc., a leading genetic analysis company, announced the introduction of an Early Access Program for its upcoming Human Chromosome ExplorerSM, human chromosome mapping analytical service for clinical research and life science research applications.

21 Oct 2014

Whole exome sequencing can assist in early diagnosis of various disorders

Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston.

20 Oct 2014

Researchers receive NIH grant to study mechanisms of auditory hypersensitivity in fragile X syndrome

Fragile X syndrome (FXS) is a genetic disorder in humans that causes social impairments and repetitive behaviors, and other behaviors on the autistic spectrum, as well as cognitive deficits.

17 Oct 2014

New oral biologic medication successfully treats precancerous intestinal inflammation

An oral biologic medication has successfully treated chronic, precancerous inflammation in the intestine, according to results of an animal study authored by an MD/PhD student in the University at Buffalo School of Medicine and Biomedical Sciences.

16 Oct 2014

New genetic guideline to help physicians make right diagnosis for subtypes of muscular dystrophy

The American Academy of Neurology (AAN) and the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) offer a new guideline on how to determine what genetic tests may best diagnose a person's subtype of limb-girdle or distal muscular dystrophy.

16 Oct 2014

Research on zebrafish helps identify cause of unknown genetic disorder

Research in zebrafish has helped identify the cause of an unknown genetic disorder affecting a boy and two of his uncles, scientists report in an article published October 14 in the journal GENETICS.

16 Oct 2014

OGT's new CytoSure Medical Research Exome Array to be launched at ASHG 2014

Oxford Gene Technology, The Molecular Genetics Company, will launch its CytoSure Medical Research Exome Array at the 64th Annual Meeting of the American Society of Human Genetics 2014, taking place in San Diego on October 18-22.

From Oxford Gene Technology 15 Oct 2014

Genetic Disorder News and Research

Further Reading

Leading medical experts across the UK call for radical scale up of liver disease treatment

PPMD, Santhera Pharmaceuticals collaborate to study Duchenne muscular dystrophy

Apitope's ATX-F8-117 granted orphan medicinal product designation for treatment of haemophilia A

Clementia gets Orphan Medicinal Product Designation from EMA for palovarotene

New treatment for Marfan syndrome works as well as beta blockers

TSRI study examines body’s own response against chronic protein misfolding

NIH study finds limited kidney benefit from more rigorous blood pressure treatment

Research finding could lead to new therapies for preventing growth of plexiform neurofibromas

Scientists develop new system to treat a host of genetic conditions

Genetic differences contribute to risk for autism

Clementia initiates Phase 2 extension study of palovarotene in FOP patients

Vanda reports total revenues of $14.8 million for third quarter 2014

High risk for congenital heart defects in Down syndrome provides tool to identify changes in genes

Early access program for human chromosome mapping analytical service announced by Hitachi High-Technologies Corporation and OpGen

Whole exome sequencing can assist in early diagnosis of various disorders

Researchers receive NIH grant to study mechanisms of auditory hypersensitivity in fragile X syndrome

New oral biologic medication successfully treats precancerous intestinal inflammation

New genetic guideline to help physicians make right diagnosis for subtypes of muscular dystrophy

Research on zebrafish helps identify cause of unknown genetic disorder

OGT's new CytoSure Medical Research Exome Array to be launched at ASHG 2014

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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