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.

Genzyme and Isis Pharmaceuticals: Phase 3 mipomersen study in heFH patients meets primary endpoint

Genzyme Corp. and Isis Pharmaceuticals Inc. today announced that the phase 3 study of mipomersen in patients with heterozygous familial hypercholesterolemia (heFH) met its primary endpoint with a highly statistically significant 28 percent reduction in LDL-cholesterol after 26 weeks of treatment, compared with an increase of 5 percent for placebo.

10 Feb 2010

Autism Speaks: Ten most significant autism research achievements in 2009

Autism Speaks, the world's largest autism science and advocacy organization has released its annual list of the 10 most significant research achievements to have impacted autism during the previous year. Every year, Autism Speaks documents the progress made toward its mission to discover the causes and treatment for autism spectrum disorders, and compiles a list of the 10 most significant research achievements to have impacted autism during the previous year.

10 Feb 2010

Sequenom CMM licenses rights from Optherion to develop and commercialize AMD diagnostic tests

Sequenom, Inc., today announced an exclusive worldwide licensing agreement with Optherion, Inc. Under the agreement, Sequenom's CAP accredited and CLIA-certified laboratory, Sequenom Center for Molecular Medicine (Sequenom CMM), obtained the rights to develop and commercialize diagnostic tests to predict genetic predisposition to late stage age-related macular degeneration (AMD).

10 Feb 2010

Findings point towards new therapeutic approach for breast and prostate cancer

In a new approach to developing treatments for breast cancer, prostate cancer and enlarged hearts, Loyola University Stritch School of Medicine researchers are zeroing in on a workhorse protein called RSK.

9 Feb 2010

FDA accepts Psyadon Pharmaceuticals' ecopipam IND for treatment of LND

Psyadon Pharmaceuticals, Inc. today announced that the United States Food and Drug Administration (FDA) has accepted its Investigational New Drug Application (IND) to study ecopipam in patients with Lesch-Nyhan Disease (LND). The first center at which the drug will be evaluated is Emory University under the direction of Dr. Hyder A. Jinnah, MD, PhD. The study is designed to evaluate the safety and tolerability of different doses of ecopipam in adults (group 1), adolescents (group 2) and children (group 3) with LND.

9 Feb 2010

Finding provides new insight into economic behavior of human beings

Neuroscientists at the California Institute of Technology (Caltech) and their colleagues have tied the human aversion to losing money to a specific structure in the brain-the amygdala.

9 Feb 2010

Results validating performance of GSN’s proprietary Parental Support technology published

Gene Security Network, Inc (GSN) today announced that Human Reproduction published results validating the exceptional performance of GSN’s proprietary Parental SupportTM technology over existing methods to detect chromosome abnormalities during in vitro-fertilization (IVF).

5 Feb 2010

Sequenom CMM launches SensiGene Fetal RHD Genotyping test for pregnant RhD negative women

Sequenom, Inc. today announced the launch of the SensiGene™ Fetal RHD Genotyping test by Sequenom's CAP accredited and CLIA-certified laboratory, Sequenom Center for Molecular Medicine (Sequenom CMM).

5 Feb 2010

BioMarin Pharmaceutical signs stock purchase agreement to acquire LEAD Therapeutics

BioMarin Pharmaceutical Inc. announced today that it has entered into a stock purchase agreement to acquire LEAD Therapeutics, Inc. (LEAD), a small private drug discovery and early stage development company with key compound LT-673, an orally available poly (ADP-ribose) polymerase (PARP) inhibitor for the treatment of patients with rare, genetically defined cancers.

4 Feb 2010

Study sheds new light on cancer metastasis

Some cells are natural rule-breakers. Neural crest cells for example, not only migrate throughout the body during development (most cells are more selective in their wandering), they are also more developmentally flexible than their predecessors (a no-no for nearly all cell types).

4 Feb 2010

Shire's clinical study results for treatment of Gaucher disease to be presented at LDN World Symposium

Shire plc, the global specialty biopharmaceutical company, today announced that data from one of three Phase III clinical trials for velaglucerase alfa, the company's enzyme replacement therapy (ERT) in development for the treatment of Type 1 Gaucher disease, will be presented at the Lysosomal Disease Network (LDN) World Symposium, February 10-12, 2010 in Miami, Florida.

4 Feb 2010

Women's metabolic disorder remains largely undiagnosed

Gail Donnelly's classmates nicknamed her "Knobby" because she was so skinny all her bones seemed to poke out from under her skin. But when Donnelly turned 27, that once knobby frame disappeared under mysteriously ballooning weight.

2 Feb 2010

Simple genetic test can help in detecting heart abnormalities

Hypertrophic Cardiomyopathy (HCM) is a genetic disease that causes the heart muscle to become abnormally large. It often goes undetected and, as a result, HCM has the dubious distinction of being the leading cause of sudden death in children, young adults and athletes.

2 Feb 2010

Study indicates dogs make excellent models for studying human genetic disorders

In the new Swedish-Finnish study, published in Nature Genetics, the researchers identified five loci that predispose to an SLE-related disease in Nova Scotia duck tolling retrievers.

31 Jan 2010

Targeted sequencing of exome can help identify potential disease-causing genes

Researchers from University of Miami Miller School of Medicine and Roche Applied Science have recently published a research study on human exome resequencing results from eight individuals that span across three generations of a family. The findings of this study showcased the value of targeted enrichment for family-based studies which allows researchers to quickly identify potential disease-causing genetic variants and will provide the data and information for further research to better understand disease and the impact across generations of a family.

29 Jan 2010

UCLA's non-invasive pre-surgical testing approach leads to seizure-free surgical outcome in TSC patients

When medication fails to control seizures in children with tuberous sclerosis complex (TSC), a rare genetic disorder that affects multiple organ systems and frequently causes epilepsy, surgery to remove part of the brain is often necessary. But pre-surgical testing, which involves the implanting of electrodes into a child's head, can lead to longer hospital stays and greater risks from surgery.

29 Jan 2010

Researchers discover new target for drugs to prevent common iron deficiency

The discovery of a major player in the body's regulation of iron levels should provide a new target for drugs that prevent common iron deficiency as well as rare, potentially deadly iron overload, researchers said.

29 Jan 2010

NYU professor conducts genetic screening at academic campuses in Boston

Dr. Harry Ostrer, professor of pediatrics, pathology and medicine at NYU Langone Medical Center will be conducting genetic screening at four college campuses in Boston on February 1st and 2nd. Individuals interested in being screened should sign- up online at www.med.nyu.edu/genetics.

28 Jan 2010

Researchers challenge prevailing assumptions in interpreting genome-wide studies

In the decade since the Human Genome Project produced the first map of DNA sequences in the human genome, scientists throughout the world have combed through genome data to identify genes and gene variants that cause human disease.

28 Jan 2010

Facial and brain anomalies in holoprosencephaly related chromosome aberrations characterized

Researchers at Signature Genomic Laboratories, which performs diagnostic genetic testing of chromosome abnormalities in individuals with unexplained physical and developmental disabilities, recently characterized a broad spectrum of facial and brain anomalies in individuals with chromosome aberrations associated with holoprosencephaly.

27 Jan 2010

Genetic Disorder News and Research

Further Reading

Genzyme and Isis Pharmaceuticals: Phase 3 mipomersen study in heFH patients meets primary endpoint

Autism Speaks: Ten most significant autism research achievements in 2009

Sequenom CMM licenses rights from Optherion to develop and commercialize AMD diagnostic tests

Findings point towards new therapeutic approach for breast and prostate cancer

FDA accepts Psyadon Pharmaceuticals' ecopipam IND for treatment of LND

Finding provides new insight into economic behavior of human beings

Results validating performance of GSN’s proprietary Parental Support technology published

Sequenom CMM launches SensiGene Fetal RHD Genotyping test for pregnant RhD negative women

BioMarin Pharmaceutical signs stock purchase agreement to acquire LEAD Therapeutics

Study sheds new light on cancer metastasis

Shire's clinical study results for treatment of Gaucher disease to be presented at LDN World Symposium

Women's metabolic disorder remains largely undiagnosed

Simple genetic test can help in detecting heart abnormalities

Study indicates dogs make excellent models for studying human genetic disorders

Targeted sequencing of exome can help identify potential disease-causing genes

UCLA's non-invasive pre-surgical testing approach leads to seizure-free surgical outcome in TSC patients

Researchers discover new target for drugs to prevent common iron deficiency

NYU professor conducts genetic screening at academic campuses in Boston

Researchers challenge prevailing assumptions in interpreting genome-wide studies

Facial and brain anomalies in holoprosencephaly related chromosome aberrations characterized

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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