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.

Researchers develop adjuvant which enhances effect of virus transduction

Lentiviruses, which belong to the family of retroviruses, are used as vectors to exchange genetic material in cells and can be used to replace a defective gene as defined by gene therapy.

5 Mar 2014

Stem cells from patients offer model, drug-discovery platform for early-onset form of Alzheimer's

Harvard stem cell scientists have successfully converted skins cells from patients with early-onset Alzheimer's into the types of neurons that are affected by the disease, making it possible for the first time to study this leading form of dementia in living human cells. This may also make it possible to develop therapies far more quickly and accurately than before.

5 Mar 2014

Oxford Gene Technology announces acquisition of Cytocell

Oxford Gene Technology, a provider of innovative genetics research solutions, today announced the acquisition of Cambridge-based Cytocell Limited, a leading provider of DNA technology for the detection of gene rearrangements related to inherited genetic disease and cancer.

From Oxford Gene Technology 4 Mar 2014

Research roundup: Medicaid peer support; doctor Jokes; ACA's asset rules for coverage

Since 2009, the eight states (Alabama, Illinois, Louisiana, Massachusetts, New York, Utah, Virginia, and Wisconsin) participating in the Robert Wood Johnson Foundation's Maximizing Enrollment program have worked to streamline and simplify enrollment systems, policies, and processes for children and those eligible for coverage in 2014. ... States [focused] on five key areas: 1) applications, 2) eligibility determinations, 3) renewals and transfers, 4) notices, and 5) business processes.

3 Mar 2014

RainDance Technologies closes $16.5 million Series E financing round

RainDance Technologies, Inc., an innovative genomics tools company making molecular testing of complex diseases more standardized and readily available, today announced that it has closed a $16.5 million Series E financing round extension. New investors include GE Ventures and Northgate Capital; all existing financial investors also participated in this round of financing.

3 Mar 2014

New web portal to speed discovery of genes responsible for rare disorders

A new web portal - called PhenomeCentral - is being launched today to connect clinicians and scientists worldwide in an effort to speed the discovery of genes responsible for rare disorders.

3 Mar 2014

Study establishes innovative approaches to improve vision of young children with brain tumor

Robert Avery, DO, MSCE, of Children's National Health System and colleagues are establishing innovative approaches with technology and medication to improve the vision of young children who have visual pathway glioma, a type of brain tumor.

3 Mar 2014

Global initiatives underscore shire's long-term commitment to rare disease community

Shire plc (LSE: SHP, NASDAQ: SHPG) today announced its support of Rare Disease Day and invites others to join them in its continued commitment to the rare disease community.

3 Mar 2014

LMU researchers identify genetic mutations that result in overproduction of cortisol

An international team of researchers led by an endocrinologist at Ludwig-Maximilians-Universitaet (LMU) in Munich has identified genetic mutations that result in uncontrolled synthesis and secretion of the stress hormone cortisol.

28 Feb 2014

Researchers discover how brain cells change during learning and memories

A new University of British Columbia study identifies an important molecular change that occurs in the brain when we learn and remember.

25 Feb 2014

Self Regional Healthcare, Clemson University expand partnership to accelerate rate of innovation in genetic medicine

A new partnership will establish formal collaboration among genetic researchers and Clemson University faculty at the Greenwood Genetic Center and Self Regional Healthcare, expanding an already successful working relationship.

24 Feb 2014

New information on pathogenesis of feeding and swallowing difficulties in kids with autism

Collaborative research out of the George Washington University (GW) reveals new information on the pathogenesis of feeding and swallowing difficulties often found in children with neurodevelopmental disorders, including autism and intellectual disability.

20 Feb 2014

Cystinosis Research Foundation granted $2.15M in 2013 to researchers investigating cure for cystinosis

The Cystinosis Research Foundation awarded $2,153,048 in 2013 to researchers investigating better treatments and a cure for cystinosis, a rare metabolic and genetic disease that afflicts about 500 children and young adults in the United States and 2,000 worldwide.

19 Feb 2014

Researchers receive funding to develop treatments for Rett Syndrome

Researchers from Scotland and the US are taking a step towards reversing the effects of a debilitating genetic disease and bring hope to tens of thousands of sufferers worldwide.

14 Feb 2014

Researchers reveal how genome-editing tool works as 'guided missile' to correct errors in genetic code

Researchers from the Broad Institute and MIT have teamed up with colleagues from the University of Tokyo to form the first high definition picture of the Cas9 complex - a key part of the CRISPR-Cas system used by scientists as a genome-editing tool to silence genes and probe the biology of cells. Their findings, which are reported this week in Cell, are expected to help researchers refine and further engineer the tool to accelerate genomic research and bring the technology closer to use in the treatment of human genetic disease.

13 Feb 2014

Novogene purchases HiSeq X Ten sequencing system from Illumina

Illumina, Inc. (NASDAQ:ILMN) today announced that Novogene (www.novogene.cn), a leading genomics service provider based in Beijing, China, purchased one HiSeq X Ten.

From Illumina, Inc. 13 Feb 2014

Johns Hopkins cardiologist receives first Harrington prize for innovation in medicine

Johns Hopkins pediatric cardiologist and geneticist Hal Dietz, M.D., has been awarded the first Harrington Prize for Innovation in Medicine for his work identifying the cause and a treatment for Marfan syndrome.

13 Feb 2014

LA BioMed researchers test investigational drug for treatment of Sanfilippo B syndrome

A promising new therapy has - for the first time - reduced damage to the brain that can be caused by Sanfilippo B (MPS IIIB), a rare and devastating genetic disease, Los Angeles Biomedical Research Institute researchers will report today in a presentation at the Lysosomal Disease Network's 10th Annual WORLD Symposium-.

12 Feb 2014

Researchers examine link between gender and genetic disorder

A genetic disorder that affects about 1 in every 2,500 births can cause a bewildering array of clinical problems, including brain tumors, impaired vision, learning disabilities, behavioral problems, heart defects and bone deformities. The symptoms and their severity vary among patients affected by this condition, known as neurofibromatosis type 1 (NF1).

9 Feb 2014

UCSF-led study gathers data on safety, tolerability of purified cannabinoid for children with epilepsy

A new international multi-center study led by researchers from UCSF Benioff Children's Hospital is the first to evaluate whether purified cannabinoid is effective in treating severe forms of childhood epilepsy that do not respond to standard antiepileptic drugs.

5 Feb 2014

Genetic Disorder News and Research

Further Reading

Researchers develop adjuvant which enhances effect of virus transduction

Stem cells from patients offer model, drug-discovery platform for early-onset form of Alzheimer's

Oxford Gene Technology announces acquisition of Cytocell

Research roundup: Medicaid peer support; doctor Jokes; ACA's asset rules for coverage

RainDance Technologies closes $16.5 million Series E financing round

New web portal to speed discovery of genes responsible for rare disorders

Study establishes innovative approaches to improve vision of young children with brain tumor

Global initiatives underscore shire's long-term commitment to rare disease community

LMU researchers identify genetic mutations that result in overproduction of cortisol

Researchers discover how brain cells change during learning and memories

Self Regional Healthcare, Clemson University expand partnership to accelerate rate of innovation in genetic medicine

New information on pathogenesis of feeding and swallowing difficulties in kids with autism

Cystinosis Research Foundation granted $2.15M in 2013 to researchers investigating cure for cystinosis

Researchers receive funding to develop treatments for Rett Syndrome

Researchers reveal how genome-editing tool works as 'guided missile' to correct errors in genetic code

Novogene purchases HiSeq X Ten sequencing system from Illumina

Johns Hopkins cardiologist receives first Harrington prize for innovation in medicine

LA BioMed researchers test investigational drug for treatment of Sanfilippo B syndrome

Researchers examine link between gender and genetic disorder

UCSF-led study gathers data on safety, tolerability of purified cannabinoid for children with epilepsy

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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