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.

Japanese MHLW approves St. Jude Medical's AnalyST ICD with ST Monitoring device

St. Jude Medical, Inc., a global medical device company, today announced regulatory approval from the Japanese Ministry of Health, Labour and Welfare (MHLW) of its AnalyST™ implantable cardioverter defibrillator (ICD) with ST Monitoring, a revolutionary device that not only provides life-saving therapy for dangerously fast heart rhythms, but also continuously monitors electrical changes (called ST segments) to help physicians monitor for cardiac problems.

12 May 2010

UT Southwestern researchers uncover core function of gene involved in Fragile X syndrome

Researchers at UT Southwestern Medical Center have discovered how the genetic mutation that causes Fragile X syndrome, the most common form of inherited mental retardation, interferes with the "pruning" of nerve connections in the brain. Their findings appear in the April 29 issue of Neuron.

10 May 2010

Creator of California Tay-Sachs Disease Prevention Program among the honorees

A mere 40 years ago, parents didn't know they were carriers of the Tay-Sachs disease until after they'd given birth to a child with this fatal genetic disorder.

7 May 2010

Fragile X syndrome iPS cells and embryonic stem cells behave differently: Study

In the last three years, a new technique for reprogramming adult cells has given scientists an easier and less controversial way to harness the power of embryonic-like stem cells to study human disease from its earliest beginnings in hopes of gleaning new insights into the root causes of disease and developing new therapies.

7 May 2010

Movements of satellite cells could help patients with muscular dystrophy: MU researchers

When muscle tissue experiences trauma or disease, such as muscular dystrophy, stem cells in the muscle known as "satellite cells" respond to repair and regenerate the muscle. These cells are particularly important in neuromuscular diseases, such as muscular dystrophy, which affect muscle stability and repair.

7 May 2010

STEM reports net loss of $6,124,000 for first-quarter 2010: MicroStockProfit.com

MicroStockProfit.com announces an investment report featuring StemCells Inc. The report includes financial, comparative and investment analyses, and industry information you need to know to make an educated investment decision.

5 May 2010

Researchers explore role of ECoG measurement to improve brain mapping technology

Epilepsy and seizures affect nearly 3 million Americans of all ages, with 200,000 new cases of seizures and epilepsy occurring each year. Epilepsy surgery may be performed in patients who have seizures associated with structural brain abnormalities, such as benign brain tumors and cortical dysplasia, malformations of blood vessels, the genetic disorder tuberous sclerosis, and strokes.

4 May 2010

Study finds standard heel-stick test ineffective in identifying CMV infection in babies

A national study involving a UT Southwestern Medical Center neonatologist and pediatric infectious diseases specialist suggests that a screening test routinely performed in newborns is not very good at identifying cytomegalovirus (CMV) infection, a leading cause of hearing loss in children.

4 May 2010

ACAAI, AGA Institute announce innovative initiative to raise awareness of HAE

The American College of Allergy, Asthma and Immunology and the American Gastroenterological Association Institute today announced an innovative initiative called "HAE: Learn About It, Talk About It," at Digestive Disease Week® 2010.

4 May 2010

Researchers present positive results of Phase II clinical trial of eliglustat tartrate

Gaucher disease, a rare enzyme deficiency disorder, is one of many conditions with few approved treatment options for patients. In a study published online today in Blood, the journal of the American Society of Hematology, researchers present positive results of a Phase II clinical trial of eliglustat tartrate, an oral therapy in development to treat Gaucher disease.

4 May 2010

Jumping elements in primates may have important consequences for studies of human genetic diseases

The density of transposable (jumping) elements between sex chromosomes in primates may have important consequences for the studies of human genetic diseases, say Penn State University researchers.

30 Apr 2010

Pain Therapeutics reports net loss of $1.0 million for first-quarter 2010

Pain Therapeutics, Inc., a biopharmaceutical company, today reported first quarter 2010 financial results. Net loss for Q1 2010 was $1.0 million, or $0.02 per share, compared to a net loss of $1.8 million, or $0.04 per share, for Q1 2009.

29 Apr 2010

Renowned cardiologists to discuss latest research on Hypertrophic Cardiomyopathy at HCMA symposium

Hypertrophic Cardiomyopathy (HCM), the genetic disease in which the muscle of the heart thickens in the absence of an apparent cause, is the leading cause of sudden death in children and young adults. HCM accounts for 40 percent of all deaths on athletic playing fields across the U.S.

29 Apr 2010

ViroPharma initiates multi-dose Phase 2 study of Cinryze in patients with HAE

ViroPharma Incorporated today announced that it has initiated an open-label, multi-dose Phase 2 study to evaluate the safety, and pharmacokinetics and pharmacodynamics of subcutaneous versus intravenous administration of Cinryze (C1 esterase inhibitor [human)] in 24 adolescents and adult subjects with hereditary angioedema.

27 Apr 2010

Pharmacological suppression of nonsense mutations effective in treating genetic defects

Genetic mutation can disrupt the way human cells make proteins, which in turn leads to inherited disease. David Bedwell, a professor in the University of Alabama at Birmingham (UAB) Department of Microbiology, says scientists are closer than ever to producing drugs that fix this disrupted-protein pathway and drastically improving treatment of genetic disease.

27 Apr 2010

Scientists now closer to produce drugs to fix disease-causing mutations, spare healthy genes

Inherited diseases such as cystic fibrosis can be caused by genetic "nonsense mutations" that disrupt the way human cells make proteins. David Bedwell, Ph.D., a professor in the University of Alabama at Birmingham Department of Microbiology, says scientists are now closer to producing drugs that will fix this disruption and drastically improve treatment of genetic disease.

27 Apr 2010

Jefferson Medical College surgeon uses artificial liver assist device as bridge to transplantation

Cataldo Doria, M.D., Ph.D., Nicoletti Family Professor of Transplant Surgery at Jefferson Medical College of Thomas Jefferson University, and director of the Division of Transplantation at Thomas Jefferson University Hospital is the first transplant surgeon in the United States to use a new totally artificial liver assist device as a bridge to transplantation.

27 Apr 2010

Santaris Pharma advances into drug development SPC5001 research candidate against PCSK9

Santaris Pharma A/S, a clinical-stage biopharmaceutical company focused on the discovery and development of RNA-targeted therapies, today announced that it has advanced into drug development a discovery research candidate directed against PCSK9 (proprotein convertase subtilisin/kexin type 9), an important new target for the treatment of high cholesterol. Using its proprietary Locked Nucleic Acid (LNA) Drug Platform and Drug Discovery Engine, Santaris Pharma A/S identified and advanced the new drug, SPC5001, in just 18 months.

26 Apr 2010

University of Utah researchers knock out genes in nematode worms

Knocking genes out of action allows researchers to learn what genes do by seeing what goes wrong without them. University of Utah biologists pioneered the field. Mario Capecchi won a Nobel Prize for developing knockout mice. Kent Golic found a way to cripple fruit fly genes. Now, biologist Erik Jorgensen and colleagues have devised a procedure for knocking out genes in nematode worms.

26 Apr 2010

Programs to address care for children born with SCD during adulthood

Forty years ago, children born with sickle cell disease (SCD) were not expected to live past their teenage years. Today, medical advances are allowing children to live well into adulthood, raising concerns over who is going to care for these patients as adults. However, programs are underway to address these concerns, as reported in the March/April edition of Journal of Pediatric Oncology Nursing, published by the Association of Pediatric Hematology/Oncology Nurses (APHON).

24 Apr 2010

Genetic Disorder News and Research

Further Reading

Japanese MHLW approves St. Jude Medical's AnalyST ICD with ST Monitoring device

UT Southwestern researchers uncover core function of gene involved in Fragile X syndrome

Creator of California Tay-Sachs Disease Prevention Program among the honorees

Fragile X syndrome iPS cells and embryonic stem cells behave differently: Study

Movements of satellite cells could help patients with muscular dystrophy: MU researchers

STEM reports net loss of $6,124,000 for first-quarter 2010: MicroStockProfit.com

Researchers explore role of ECoG measurement to improve brain mapping technology

Study finds standard heel-stick test ineffective in identifying CMV infection in babies

ACAAI, AGA Institute announce innovative initiative to raise awareness of HAE

Researchers present positive results of Phase II clinical trial of eliglustat tartrate

Jumping elements in primates may have important consequences for studies of human genetic diseases

Pain Therapeutics reports net loss of $1.0 million for first-quarter 2010

Renowned cardiologists to discuss latest research on Hypertrophic Cardiomyopathy at HCMA symposium

ViroPharma initiates multi-dose Phase 2 study of Cinryze in patients with HAE

Pharmacological suppression of nonsense mutations effective in treating genetic defects

Scientists now closer to produce drugs to fix disease-causing mutations, spare healthy genes

Jefferson Medical College surgeon uses artificial liver assist device as bridge to transplantation

Santaris Pharma advances into drug development SPC5001 research candidate against PCSK9

University of Utah researchers knock out genes in nematode worms

Programs to address care for children born with SCD during adulthood

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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