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.

ViroPharma to present Cinryze data at Southern European Allergy Society congress

ViroPharma Incorporated today announced the presentation of two abstracts relating to Cinryze™ (C1 esterase inhibitor [human]) therapy at the First International Congress of the Southern European Allergy Society in Florence, Italy.

19 Mar 2010

ViroPharma launches 'Ryze Above' for patients with HAE enrolled in CINRYZESolutions support program

ViroPharma Incorporated today announced the launch of 'Ryze Above' (www.ryzeabove.com), an exclusive patient resources program within the company's patient support program, CINRYZESolutions®. The Ryze Above program was created for HAE patients prescribed Cinryze, the first and only drug specifically approved to help prevent swelling and/or painful attacks in teenagers and adults with HAE.

19 Mar 2010

Genes allowing opium poppy to make codeine and morphine discovered

Researchers at the University of Calgary have discovered the unique genes that allow the opium poppy to make codeine and morphine, thus opening doors to alternate methods of producing these effective painkillers either by manufacturing them in a lab or controlling the production of these compounds in the plant.

18 Mar 2010

Pathway Genomics' personal Genetic Health Report now available

Pathway Genomics Inc., a U.S. based genetic testing company, announced the immediate availability of its personal Genetic Health Report. This customized and innovative personal genetic health report contains information on more than 70 health conditions, including pharmacogenetics (prescription medication response), propensity for complex disease, and carrier status (pre-pregnancy health).

17 Mar 2010

Human amniotic fluid skin cells "reprogrammed" to pluripotency

In a breakthrough that may help fill a critical need in stem cell research and patient care, researchers at Mount Sinai School of Medicine have demonstrated that skin cells found in human amniotic fluid can be efficiently "reprogrammed" to pluripotency, where they have characteristics similar to human embryonic stem cells that can develop into almost any type of cell in the human body. The study is online now and will appear in print in the next issue of the journal Cellular Reprogramming, to be published next month.

16 Mar 2010

Blocking RhoA enzyme increases survival in SMA mouse model

Scientists from the Ottawa Hospital Research Institute (OHRI) and the University of Ottawa have identified a promising new approach for developing drugs to treat Spinal muscular atrophy (SMA), the leading inherited cause of death in infants and toddlers. Dr. Rashmi Kothary and his doctoral student Melissa Bowerman have found that an enzyme called RhoA is overly active in a mouse model of the disease and blocking this enzyme can greatly increase survival. The study is published in Human Molecular Genetics.

16 Mar 2010

Genzyme, Isis Pharmaceuticals: Phase 3 study of mipomersen in hoFH patients meets primary endpoint

Genzyme Corp. and Isis Pharmaceuticals Inc. today announced that data from a phase 3 study of mipomersen in patients with homozygous familial hypercholesterolemia (hoFH) were published in The Lancet. This study met its primary endpoint, resulting in an average LDL-C reduction of greater than 100 mg/dL in this very high-risk patient population.

16 Mar 2010

ATS releases new clinical policy statement on CCHS

The American Thoracic Society has released a new official clinical policy statement on congenital central hypoventilation syndrome (CCHS), a disorder of respiratory and autonomic nervous system (ANS) regulation. The ANS regulates reflexive acts, including heart rate and blood pressure, digestion, body temperature and pain perception.

15 Mar 2010

Genetix Pharmaceuticals announces completion of $35M Series B financing

Genetix Pharmaceuticals, a leading gene therapy company developing breakthrough treatments for severe genetic disorders, announced today that it has completed a $35 million Series B financing with new investors Third Rock Ventures and Genzyme Ventures joining TVM Capital, Forbion and Easton Capital. Proceeds from the financing will be used to advance current clinical programs, strengthen platform capabilities and further expand the team.

12 Mar 2010

Whole genome sequencing of entire family beneficial

The Institute for Systems Biology (ISB) has analyzed the first whole genome sequences of a human family of four. The findings of a project funded through a partnership between ISB and the University of Luxembourg was published online today by Science on its Science Express website. It demonstrates the benefit of sequencing entire families, including lowering error rates, identifying rare genetic variants and identifying disease-linked genes.

11 Mar 2010

Scientists identify specific causative genetic mutation associated with CMT

Scientists using advanced genomic analysis technologies from Life Technologies Corporation have sequenced an individual’s genome and identified the specific causative mutation associated with Charcot-Marie-Tooth Disease (CMT), one of the most common inherited neurological disorders currently affecting 1 in 2,500 individuals in the United States.

11 Mar 2010

NeuroSearch's MermaiHD study supports potential Huntington's disease modifying properties of Huntexil

NeuroSearch today announced that further analysis of the data from the MermaiHD study with Huntexil(R) (pridopidine) for the treatment of Huntington's disease supports potential disease modifying properties of the drug.

11 Mar 2010

First use of prenatal MRI to detect often-misdiagnosed CCD

In a case believed to be a United States first, the radiology team at Lucile Packard Children's Hospital has used prenatal magnetic resonance imaging to detect an often-misdiagnosed genetic disease.

10 Mar 2010

Genetic basis unknown in many children with mental retardation and developmental delays

Researchers from four laboratories that perform diagnostic genetic testing of chromosome abnormalities in individuals with unexplained physical and developmental disabilities recently identified a previously unrecognized genetic disorder.

10 Mar 2010

ITCH gene causes multisystem autoimmune disorder

The gene for a newly recognized disease has been identified thanks to the determination of an Amish father and the clinical skills and persistence of Indiana University and Riley Hospital for Children physicians in collaboration with physicians and researchers at the Clinic for Special Children in Lancaster County, Penn., which specializes in disorders of the Amish.

9 Mar 2010

Scientists devise software algorithm to detect medically useful information from whole-blood samples

Scientists at the Stanford University School of Medicine have devised a software algorithm that could enable a common laboratory device to virtually separate a whole-blood sample into its different cell types and detect medically important gene-activity changes specific to any one of those cell types.

8 Mar 2010

McGill, Enobia Pharma collaborate to develop treatments for serious genetic bone diseases

Dr. Marc McKee, of McGill's Faculty of Dentistry and the Department of Anatomy and Cell Biology, is collaborating closely with Enobia Pharma Inc, a Quebec biotech company, to develop innovative treatments for serious genetic bone diseases. McKee's research looks into the reasons why calcium-phosphate mineral fails to crystallize properly to form strong bones and teeth.

6 Mar 2010

Data to advance the diagnosis, treatment and management of MH to be presented

Travel Award Available to share data with Clinicians and Scientists to advance the diagnosis, treatment, and management of Malignant Hyperthermia-Susceptible Patients April 23-24, 2010 at Mercy Hospital University of Pittsburgh Medical Center.

5 Mar 2010

HMS study suggests new targets for treating Angelman syndrome

Angelman Syndrome is a rare but serious genetic disorder that causes a constellation of developmental problems in affected children, including mental retardation, lack of speech, and in some cases, autism. Over a decade ago, researchers found that AS was caused by mutation in a single gene, but no one had been able to explain how this defect resulted in the debilitating neurological symptoms of the disease.

5 Mar 2010

Latest diagnostic tools play crucial role in aiding dermatologists to spot melanomas at earlier

According to estimates from the American Cancer Society, melanoma, the most serious form of skin cancer, was responsible for an estimated 8,650 deaths in the United States in 2009. Of growing concern among dermatologists is the fact that melanoma is now the most common form of cancer for young adults 25-29 years old and the second most common cancer in adolescents and young adults 15-29 years old.

5 Mar 2010

Genetic Disorder News and Research

Further Reading

ViroPharma to present Cinryze data at Southern European Allergy Society congress

ViroPharma launches 'Ryze Above' for patients with HAE enrolled in CINRYZESolutions support program

Genes allowing opium poppy to make codeine and morphine discovered

Pathway Genomics' personal Genetic Health Report now available

Human amniotic fluid skin cells "reprogrammed" to pluripotency

Blocking RhoA enzyme increases survival in SMA mouse model

Genzyme, Isis Pharmaceuticals: Phase 3 study of mipomersen in hoFH patients meets primary endpoint

ATS releases new clinical policy statement on CCHS

Genetix Pharmaceuticals announces completion of $35M Series B financing

Whole genome sequencing of entire family beneficial

Scientists identify specific causative genetic mutation associated with CMT

NeuroSearch's MermaiHD study supports potential Huntington's disease modifying properties of Huntexil

First use of prenatal MRI to detect often-misdiagnosed CCD

Genetic basis unknown in many children with mental retardation and developmental delays

ITCH gene causes multisystem autoimmune disorder

Scientists devise software algorithm to detect medically useful information from whole-blood samples

McGill, Enobia Pharma collaborate to develop treatments for serious genetic bone diseases

Data to advance the diagnosis, treatment and management of MH to be presented

HMS study suggests new targets for treating Angelman syndrome

Latest diagnostic tools play crucial role in aiding dermatologists to spot melanomas at earlier

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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