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.

Cholesterol drug may help treat mitochondrial diseases

A human drug that both prevents and cures kidney failure in mice sheds light on disabling human mitochondrial disorders, and may represent a potential treatment in people with such illnesses.

20 May 2011

Isis receives $5M milestone payment from GSK for initiating ISIS-TTRRx Phase 1 study

Isis Pharmaceuticals, Inc. announced today that it has earned a $5 million milestone payment from GlaxoSmithKline related to the initiation of a Phase 1 clinical study for ISIS-TTRRx.

19 May 2011

Modified vitamin A drug may help prevent age-related macular degeneration

Slowing down the aggregation or "clumping" of vitamin A in the eye may help prevent vision loss caused by macular degeneration, research from Columbia University Medical Center has found.

19 May 2011

Mayo Clinic develops new screening procedure for Lynch syndrome detection

Mayo Clinic has developed a screening procedure that could dramatically increase testing for Lynch syndrome, a hereditary genetic disorder that raises cancer risk, particularly for colorectal cancer.

19 May 2011

Cytonet receives FDA orphan drug designation for liver cell infusion to treat urea cycle disorders

International biotechnology firm Cytonet, which is investigating a liver cell infusion of donated human liver cells for the treatment of urea cycle disorders in young children, announced it has been granted orphan drug designation by the U.S. Food and Drug Administration.

18 May 2011

CytRx sells global rights of molecular chaperone assets to Orphazyme

CytRx Corporation, a biopharmaceutical company specializing in oncology, today announced that it has sold the worldwide rights to its molecular chaperone assets to privately-held, Copenhagen, Denmark-based Orphazyme ApS.

17 May 2011

Pacific Biosciences, Mount Sinai collaborate to advance genomic research

Mount Sinai School of Medicine and Pacific Biosciences of California, Inc. announced a bi-coastal collaboration to advance clinical research through the Mount Sinai Institute for Genomics and Multiscale Biology to be led by Eric E. Schadt, Ph.D.

16 May 2011

Bedside screening tool can help diagnose acute aortic dissection

The most lethal and sudden cardiovascular event can be the toughest for doctors to diagnose. But a study by the University of Michigan Cardiovascular Center shows new guidelines are effective for determining who's most likely suffering from an aortic dissection, which is tearing in the lining of the body's largest blood vessel.

16 May 2011

Techulon receives U.S. patent protection for Glycofect Discovery and Therapeutic Delivery Platform

Techulon, Inc. announced today that its Glycofect Discovery and Therapeutic Delivery Platform has been awarded United States patent protection. The patented invention provides a new class of non-viral transfection vectors based on synthetic carbohydrate containing polyamides that can be used for both in vivo and in vitro applications.

16 May 2011

Hydroxyurea safe and effective for infants, toddlers with sickle-cell disease

In what is being hailed as a significant advance in the treatment of children with sickle cell anemia, a drug commonly used to treat adults has been shown to be safe and effective in children.

13 May 2011

New research sheds light on common pathogenic mechanisms underlying Huntington's disease

New research sheds light on common pathogenic mechanisms shared by Huntington's disease (HD) and HD-like disorders. The study, published by Cell Press in the May 12, 2011, issue of the journal Neuron, uses a new transgenic mouse model for an HD-like disorder to unravel complex molecular events that drive disease pathology.

12 May 2011

ViroPharma, Halozyme sign license deal to develop Cinryze against hereditary angioedema

Halozyme Therapeutics, Inc. and ViroPharma Incorporated, today announced the signing of a worldwide exclusive licensing agreement for the use of rHuPH20 in the development of a subcutaneous formulation of Cinryze .

12 May 2011

Santaris Pharma advances SPC4955 into Phase 1 trial for high cholesterol treatment

Santaris Pharma A/S, a clinical-stage biopharmaceutical company focused on the research and development of mRNA and microRNA targeted therapies, today announced that it has advanced a second drug from its cardiometabolic program, SPC4955 into Phase 1 clinical trials, for the treatment of high cholesterol.

11 May 2011

16-year-old uses supercomputing network to invent new drug cocktail for cystic fibrosis

While many 16-year-olds are content with PlayStation, Toronto-area student Marshall Zhang used the Canadian SCINET supercomputing network to invent a new drug cocktail which could one day help treat cystic fibrosis.

11 May 2011

Dravet Syndrome Foundation awards OPKO Health grant to develop potential therapeutic agents

OPKO Health, Inc. announced today that it has been awarded a grant from the Dravet Syndrome Foundation to support the Company's efforts to develop potential therapeutic agents to treat a rare genetic disorder, Dravet Syndrome, also called severe myoclonic epilepsy of infancy, a severe form of epilepsy that usually appears during the first year of life.

9 May 2011

NYU Langone researchers present recent findings at The Heart Rhythm Society 32nd annual sessions

Cardiologists from the Cardiac & Vascular Institute at NYU Langone Medical Center presented new research at The Heart Rhythm Society's 32nd Annual Scientific Sessions, May 4 -7 in San Francisco, California.

9 May 2011

Scripps Research receives CIRM grant for new research in stem cell biology and disease origins

Stem cells have huge potential in medicine because they have the ability to change or differentiate into many different cell types potentially providing a source of cells to replace those that have been permanently lost by a patient.

6 May 2011

New genetic discovery in megalencephalic leukoencephalopathy with subcortical cysts

White matter disease covers a large group of disorders that affect the white matter, or myelin. In children these disorders are commonly genetic and often go undiagnosed. In new research, a team led by Raúl Estévez, a lecturer from the Department of Physiological Sciences II, based at the UB's Bellvitge Health Sciences Campus, working with the researcher Marjo van der Knaap, from the University Medical Centre at VU University Amsterdam, have identified mutant GLIALCAM as responsible for 25% of cases of megalencephalic leukoencephalopathy with subcortical cysts, a rare genetic disease affecting cerebral myelin.

4 May 2011

Exercise linked to improved lung status in children with cystic fibrosis

A small Johns Hopkins Children's Center study of children and teens with cystic fibrosis shows that simple exercise, individually tailored to each patient's preference and lifestyle, can help improve lung function and overall fitness.

4 May 2011

Researchers unravel mechanism behind sickle hemoglobin protection against malaria

The latest issue of the journal Cell carries an article that is likely to help solve one of the long-standing mysteries of biomedicine. In a study that challenges currently held views, researchers at the Instituto Gulbenkian de Ci-ncia, in Portugal, unravel the molecular mechanism whereby sickle cell hemoglobin confers a survival advantage against malaria, the disease caused by Plasmodium infection.

29 Apr 2011

Genetic Disorder News and Research

Further Reading

Cholesterol drug may help treat mitochondrial diseases

Isis receives $5M milestone payment from GSK for initiating ISIS-TTRRx Phase 1 study

Modified vitamin A drug may help prevent age-related macular degeneration

Mayo Clinic develops new screening procedure for Lynch syndrome detection

Cytonet receives FDA orphan drug designation for liver cell infusion to treat urea cycle disorders

CytRx sells global rights of molecular chaperone assets to Orphazyme

Pacific Biosciences, Mount Sinai collaborate to advance genomic research

Bedside screening tool can help diagnose acute aortic dissection

Techulon receives U.S. patent protection for Glycofect Discovery and Therapeutic Delivery Platform

Hydroxyurea safe and effective for infants, toddlers with sickle-cell disease

New research sheds light on common pathogenic mechanisms underlying Huntington's disease

ViroPharma, Halozyme sign license deal to develop Cinryze against hereditary angioedema

Santaris Pharma advances SPC4955 into Phase 1 trial for high cholesterol treatment

16-year-old uses supercomputing network to invent new drug cocktail for cystic fibrosis

Dravet Syndrome Foundation awards OPKO Health grant to develop potential therapeutic agents

NYU Langone researchers present recent findings at The Heart Rhythm Society 32nd annual sessions

Scripps Research receives CIRM grant for new research in stem cell biology and disease origins

New genetic discovery in megalencephalic leukoencephalopathy with subcortical cysts

Exercise linked to improved lung status in children with cystic fibrosis

Researchers unravel mechanism behind sickle hemoglobin protection against malaria

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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