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 tool to identify biogeography of worldwide individuals

Biogeographical data is useful in screening for disease risk and drug sensitivity associated with certain ethnic groups. A team of researchers, including an investigator from Children's Hospital Los Angeles, has developed a tool to accurately identify the biogeography of worldwide individuals. Previous tools were accurate in identifying place of origin within homogeneous European populations but highly inaccurate for places with significant immigration, such as the U.S.

30 Apr 2014

Positive results from pivotal clinical trial of Trophos’ olesoxime in SMA patients to be presented at AAN 2014

Trophos and AFM-Telethon today announce that data from the pivotal clinical trial of Trophos’ lead product candidate olesoxime in spinal muscular atrophy (SMA) will be presented during the 66th American Academy of Neurology annual meeting to be held in Philadelphia, PA, USA, from April 26 to May 3 2014.

29 Apr 2014

Studies report new genetic disorder associated with degeneration of central/peripheral nervous systems

A newly identified genetic disorder associated with degeneration of the central and peripheral nervous systems in humans, along with the genetic cause, is reported in the April 24, 2014 issue of Cell.

25 Apr 2014

Alexion Pharmaceuticals obtains orphan drug designation from EC for Soliris

Alexion Pharmaceuticals, Inc. today announced that the European Commission has granted an orphan drug designation (ODD) to Soliris (eculizumab), a first-in-class terminal complement inhibitor, for the prevention of graft rejection following solid organ transplantation. Graft rejection can cause severe injury to the transplanted organ and is a significant barrier to successful transplantation.

23 Apr 2014

OGT releases new application note detailing performance of two DNA labelling kits

Oxford Gene Technology, The Molecular Genetics Company, has released a new application note detailing the technical evaluation of two DNA labelling kits, where OGT’s CytoSure Genomic DNA Labelling Kits were found to be quicker and more accurate than a leading alternative.

From Oxford Gene Technology 23 Apr 2014

Novel method could help kidney stone sufferers receive correct, effective treatment

Researchers in France have hit on a novel method to help kidney stone sufferers ensure they receive the correct and most effective treatment possible.

21 Apr 2014

Agios begins AG-348 Phase 1 study to treat PK deficiency

Agios Pharmaceuticals, Inc., a leader in the fields of cancer metabolism and inborn errors of metabolism (IEM), today announced dose administration of AG-348 in a Phase 1 study in healthy volunteers.

18 Apr 2014

Neurovive presents new breakthrough on energy regulation at cellular level

NeuroVive, a leading mitochondrial medicine company, is presenting a breakthrough in the company's work on energy regulation at the cellular level.

17 Apr 2014

Wilson Therapeutics closes $40 million Series B financing

Wilson Therapeutics, a biopharmaceutical company, today announced that it has closed a $40 million Series B financing co-led by new investors, Abingworth LLP and MVM Life Science Partners LLP. The company's founding investor, HealthCap, also participated in the round.

16 Apr 2014

European scientists set up new therapeutic approaches to tackle gene defects

On 15th April is the 1st International Pompe Disease Day, a campaign to raise awareness of this rare but severe gene defect. Pompe Disease is only one of more than 40 metabolic disorders that mainly affect children under the age of 10, often with devastating consequences.

15 Apr 2014

Researchers discover tumor suppressor gene folliculin essential to normal lung function in BHD patients

11 Apr 2014

Longer looks: Vermont's single payer system; Nevada's cancer cluster; the toll of dementia on a family

Skatchewan is a vast prairie province in the middle of Canada. It's home to hockey great Gordie Howe and the world's first curling museum. But Canadians know it for another reason: it's the birthplace of the country's single-payer health-care system.

11 Apr 2014

Two Penn researchers selected as recipients of prestigious Clinical Research Achievement Award

Two researchers from the Perelman School of Medicine at the University of Pennsylvania and the Penn Cardiovascular Institute are among the 2014 recipients of the prestigious Clinical Research Achievement Award for their work in cardiovascular science.

11 Apr 2014

Researchers discover mechanism that control normal lung function in patients with BHD syndrome

Researchers at Penn Medicine have discovered that the tumor suppressor gene folliculin (FLCN) is essential to normal lung function in patients with the rare disease Birt-Hogg-Dube (BHD) syndrome, a genetic disorder that affects the lungs, skin and kidneys. Folliculin's absence or mutated state has a cascading effect that leads to deteriorated lung integrity and an impairment of lung function, as reported in their findings in the current issue of Cell Reports.

11 Apr 2014

Researchers find that cancer gene require copper to promote tumor growth

Drugs used to block copper absorption for a rare genetic condition may find an additional use as a treatment for certain types of cancer, researchers at Duke Medicine report.

10 Apr 2014

NIH study could offer clues for developing new antiviral treatments

A National Institutes of Health study reports that a rare genetic disease, while depleting patients of infection-fighting antibodies, may actually protect them from certain severe or recurrent viral infections.

10 Apr 2014

New drug for treating Rett syndrome is on the horizon

A powerful new drug which could relieve the symptoms of devastating childhood disease Rett syndrome is on the horizon thanks to a funding injection of -180,000.

10 Apr 2014

Blood sample could diagnose many types of solid cancers

A blood sample could one day be enough to diagnose many types of solid cancers, or to monitor the amount of cancer in a patient's body and responses to treatment. Previous versions of the approach, which relies on monitoring levels of tumor DNA circulating in the blood, have required cumbersome and time-consuming steps to customize it to each patient or have not been sufficiently sensitive.

7 Apr 2014

Thomson Reuters, Children's Tumor Foundation partner to create neurofibromatosis pathway maps

The Intellectual Property & Science business of Thomson Reuters, the world's leading provider of intelligent information for businesses and professionals, today announced an expansion of its partnership with the Children's Tumor Foundation to create unique neurofibromatosis (NF) pathway maps aimed at significantly increasing the understanding of the disease and its underlying mechanisms.

4 Apr 2014

Expert in gene therapy joins The Children's Hospital of Philadelphia

Beverly L. Davidson, Ph.D., a nationally prominent expert in gene therapy, is joining The Children's Hospital of Philadelphia (CHOP) today.

2 Apr 2014

Genetic Disorder News and Research

Further Reading

Researchers develop tool to identify biogeography of worldwide individuals

Positive results from pivotal clinical trial of Trophos’ olesoxime in SMA patients to be presented at AAN 2014

Studies report new genetic disorder associated with degeneration of central/peripheral nervous systems

Alexion Pharmaceuticals obtains orphan drug designation from EC for Soliris

OGT releases new application note detailing performance of two DNA labelling kits

Novel method could help kidney stone sufferers receive correct, effective treatment

Agios begins AG-348 Phase 1 study to treat PK deficiency

Neurovive presents new breakthrough on energy regulation at cellular level

Wilson Therapeutics closes $40 million Series B financing

European scientists set up new therapeutic approaches to tackle gene defects

Researchers discover tumor suppressor gene folliculin essential to normal lung function in BHD patients

Longer looks: Vermont's single payer system; Nevada's cancer cluster; the toll of dementia on a family

Two Penn researchers selected as recipients of prestigious Clinical Research Achievement Award

Researchers discover mechanism that control normal lung function in patients with BHD syndrome

Researchers find that cancer gene require copper to promote tumor growth

NIH study could offer clues for developing new antiviral treatments

New drug for treating Rett syndrome is on the horizon

Blood sample could diagnose many types of solid cancers

Thomson Reuters, Children's Tumor Foundation partner to create neurofibromatosis pathway maps

Expert in gene therapy joins The Children's Hospital of Philadelphia

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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