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Synageva BioPharma seeks FDA orphan drug designation for SBC-102 enzyme replacement therapy

Synageva BioPharma Corp., a privately held biopharmaceutical company, today announced its filing with the U.S. Food and Drug Administration (FDA) requesting orphan drug designation for its program, SBC-102. This program is an enzyme replacement therapy in preclinical development to treat lysosomal acid lipase (LAL) deficiency, also known as Wolman disease or cholesteryl ester storage disease (CESD), a condition for which there is currently no effective treatment.

4 May 2010

Personalized vaccine processed using tumor tissue promising for brain tumor treatment

Each day in the United States, 482 people are diagnosed with a brain tumor. For these 482 people, not many treatments exist. With the current treatments available, only 5% of those diagnosed with a Glioblastoma Multiform will survive more than 5 years. Only two new treatments have been approved by the FDA in the past two decades.

4 May 2010

FDA grants market clearance for Illumina's BeadXpress system for multiplex genetic analysis

Illumina, Inc. today announced that the U.S. Food and Drug Administration has granted 510(k) market clearance for the company's BeadXpress system for multiplex genetic analysis.

From Illumina, Inc. 4 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

Novel biomarker test predicts risk of disease progression in patients with Crohn's disease

Prometheus Laboratories Inc., a specialty pharmaceutical and diagnostic company, announced new findings supporting a novel, algorithm-based biomarker test that helps clinicians effectively predict the risk of developing aggressive disease in patients with Crohn's disease.

4 May 2010

Brain changes indicative of Fragile X syndrome take place early

Brain changes associated with the most common cause of mental retardation can be seen in magnetic resonance imaging (MRI) scans of children as young as one to three years old, according to a study by researchers at the University of North Carolina at Chapel Hill and Stanford University.

4 May 2010

UCSF transgenic mouse model first to display earliest signs of Parkinson's disease

UCSF researchers have created the first transgenic mouse to display the earliest signs of Parkinson's disease using the genetic mutation that is known to accompany human forms of the disease.

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

New data on salt-sensitive hypertension to be presented at ASH 2010 conference

With governmental authorities, academicians, healthcare providers and industry grappling with the level of salt in the diet in an effort to reduce its impact on high blood pressure, new data evaluating a potential genetic component to salt-sensitive hypertension will be presented at the American Society of Hypertension, Inc.'s 25th Annual Scientific Meeting and Exposition (ASH 2010).

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

Hormone-like inner ear signaling system protects against noise-induced hearing loss

An in vivo study shows for the first time that there is a stress-response system within the cochlea that mirrors the signaling pathways of the body's fight or flight response. Researchers have identified a hormone-like signaling system of the inner ear that sets baseline hearing sensitivity and helps protect against noise-induced hearing loss.

4 May 2010

JGH researchers identify 13 new genes associated with osteoporosis, bone weakness

A team of international researchers has identified 20 genes associated with osteoporosis and bone weakness, including 13 genes never previously associated with the disease. Osteoporosis is a highly heritable trait, but this marks the largest international effort to conclusively identify genes linked to the often-devastating bone disorder.

4 May 2010

New breakthrough in nutritional plant breeding may save children’s eyesight

Two Agricultural Research Service (ARS) scientists are part of an international team that has found a way to boost the nutritional value of corn. This has the potential to reduce the number of children in developing countries who lose their eyesight, become ill or die each year because of vitamin A deficiencies.

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

NIH awards Hutchinson Center $10.24M for research of breast cancer disparities in Hispanic women

The National Institutes of Health has awarded $10.24 million to Fred Hutchinson Cancer Research Center to lead a five-year study that aims to understand and prevent breast cancer disparities in Hispanic women.

4 May 2010

Researchers identify genes associated with cleft lip and/or cleft palate

An international consortium of scientists, led by researchers at Johns Hopkins University has identified two genes that when altered are closely associated with cleft lip and/or cleft palate. Cleft lip and cleft palate are among the world's most common congenital malformations and occur in one in every 700 births. The finding is the result of the largest family-based, genome-wide study of cleft lip and/or cleft palate conducted to date. The results were published online by the journal Nature Genetics.

3 May 2010

Progress in development of gene therapies for inherited blindness caused by rod degeneration

Veterinary vision scientists at the University of Pennsylvania have safely and successfully used a viral vector in targeting a class of photoreceptors of the retina called rods, a critical first step in developing gene therapies for inherited blindness caused by rod degeneration.

3 May 2010

Family Tree DNA announces launch of Family Finder DNA test

Family Tree DNA, the first and largest genealogical DNA testing company, today announced the launch of the Family Finder DNA test for connecting family members across all ancestral lines. The test utilizes Affymetrix' recently launched Axiom genotyping technology and the GeneTitan® System to confidently match a wide range of family relationships within five generations.

3 May 2010

Scientist to receive 2010 March of Dimes Prize in Developmental Biology

The scientist who reprogrammed adult cells into embryonic-like stem cells has been chosen to receive the 2010 March of Dimes Prize in Developmental Biology.

3 May 2010

CML, FightSMA Canada collaborate to find a cure for spinal muscular atrophy

CML HealthCare Income Fund (TSX: CLC.UN), (CML) of Mississauga, Ontario has partnered with FightSMA Canada, to help find a cure for Spinal Muscular Atrophy (SMA), the leading genetic cause of death among children under the age of two.

3 May 2010

Genetic News and Research

Synageva BioPharma seeks FDA orphan drug designation for SBC-102 enzyme replacement therapy

Personalized vaccine processed using tumor tissue promising for brain tumor treatment

FDA grants market clearance for Illumina's BeadXpress system for multiplex genetic analysis

Researchers explore role of ECoG measurement to improve brain mapping technology

Novel biomarker test predicts risk of disease progression in patients with Crohn's disease

Brain changes indicative of Fragile X syndrome take place early

UCSF transgenic mouse model first to display earliest signs of Parkinson's disease

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

New data on salt-sensitive hypertension to be presented at ASH 2010 conference

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

Hormone-like inner ear signaling system protects against noise-induced hearing loss

JGH researchers identify 13 new genes associated with osteoporosis, bone weakness

New breakthrough in nutritional plant breeding may save children’s eyesight

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

NIH awards Hutchinson Center $10.24M for research of breast cancer disparities in Hispanic women

Researchers identify genes associated with cleft lip and/or cleft palate

Progress in development of gene therapies for inherited blindness caused by rod degeneration

Family Tree DNA announces launch of Family Finder DNA test

Scientist to receive 2010 March of Dimes Prize in Developmental Biology

CML, FightSMA Canada collaborate to find a cure for spinal muscular atrophy

Sequencing & Genomics: Elevating Science and Healthcare eBook

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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