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 discover genetic mutations that cause deadly lung disease

A team of researchers, led by physicians and scientists at Intermountain Medical Center and ARUP Laboratories in Salt Lake City, has made a medical breakthrough by discovering genetic mutations that cause a rare and deadly lung disease.

4 Feb 2014

New insights into cell division could improve knowledge of cancer

New insights into how the cells in our bodies divide could improve our knowledge of a condition linked to cancer, a study suggests.

4 Feb 2014

Longer looks: Doctor guilt; an abortion provider's hidden record

Okay, I know I'm a health writer, but I really don't like going to the doctor. Part of it is an unshakeable, irrational certainty that they will find something horribly wrong with me that I'd rather not know about, and part of it is a rational certainty that they will find something mildly wrong with me that is my fault and chastise me for it - drinking too much, not exercising enough, whatever. One should be able to talk to one's doctor about these things - the aspects of one's lifestyle that maybe aren't so great. ... But in 2009, a study by researchers at the University of California, San Diego found that half of the patients surveyed had experienced shame as a result of something a doctor said to them.

31 Jan 2014

Alexion Pharmaceuticals reports full year 2013 GAAP and non-GAAP financial results

Alexion Pharmaceuticals, Inc. today announced financial results for the quarter and year ended December 31, 2013. For the three months ended December 31, 2013, Alexion Pharmaceuticals, Inc. ("Alexion" or the "Company") reported net product sales of Soliris® (eculizumab) of $441.9 million, compared to $320.5 million for the same period in 2012.

30 Jan 2014

USF Health and FORCE receive award from PCORI to develop and expand health data network

A team led by the University of South Florida (USF Health) Morsani College of Medicine and the leading national hereditary breast and ovarian cancer advocacy organization, FORCE (Facing Our Risk of Cancer Empowered), has received a $960,026 award from the Patient-Centered Outcomes Research Institute (PCORI) to develop and expand a health data network that will be part of PCORnet: the National Patient-Centered National Clinical Research Network.

24 Jan 2014

Researchers discover new gene involved in severe childhood epilepsy

A European consortium of epilepsy researchers has reported the discovery of a new gene involved in severe childhood epilepsy. Using a novel combination of technologies, including trio exome sequencing of patient/parental DNA and genetic studies in the tiny larvae of zebrafish, the EuroEPINOMICS RES consortium found that mutations in the gene CHD2 are responsible for a subset of epilepsy patients with symptoms similar to Dravet syndrome - a severe form of childhood epilepsy that is in many patients resistant to currently available anti-epileptic drugs.

23 Jan 2014

Joint research program in SMA enters initial stage of clinical development

PTC Therapeutics, Inc., the SMA Foundation, and Roche, announced today that their joint research program in Spinal Muscular Atrophy has entered the first stage of clinical development aiming to assess safety and tolerability of an oral compound in healthy volunteers.

22 Jan 2014

Research findings may offer new therapeutic target for management of Gaucher diseas

What causes brain damage and inflammation in severe cases of Gaucher disease? Little is known about the events that lead to brain pathology in some forms of the disease, and there is currently no treatment available - a bleak outlook for sufferers and their families. Now, scientists at the Weizmann Institute of Science have discovered a new cellular pathway implicated in Gaucher disease.

19 Jan 2014

IRCM researchers show importance of DNA architecture in controlling activity of genes

A study conducted by Marie Kmita's team at the IRCM, in collaboration with Jos-e Dostie at McGill University, shows the importance of the chromatin architecture in controlling the activity of genes, especially those required for proper embryonic development.

17 Jan 2014

New dye more effective in detecting, measuring cardiolipin in cell membranes

A team that includes Dartmouth College researchers has discovered a new way to detect cardiolipin, a key indicator of heart diseases and some genetic disorders.

16 Jan 2014

Sequenom signs national agreement to provide coverage for MaterniT21™ PLUS test

Sequenom, Inc. (NASDAQ: SQNM), a life sciences company providing innovative testing and genetic analysis solutions, announced today its wholly owned subsidiary, Sequenom Laboratories, has signed a national agreement with a leading benefits provider, to provide coverage for the MaterniT21™ PLUS laboratory-developed test (LDT).

10 Jan 2014

Researchers reveal newest weapon to visualize shape and motion of RNA

Qi Zhang sees himself as a warrior. In his lab at the University of North Carolina at Chapel Hill, he wages war on genetic diseases such as cancer and heart disease on a battlefield measured with single atoms.

10 Jan 2014

Biogen Idec, Sangamo BioSciences partner to develop therapeutics for hemoglobinopathies

Biogen Idec and Sangamo BioSciences, Inc. announced today an exclusive worldwide collaboration and license agreement focused on the development of therapeutics for hemoglobinopathies, inherited conditions that result from the abnormal structure or underproduction of hemoglobin.

9 Jan 2014

AIT initiates Phase II clinical trial of NOxCureCF for patients with cystic fibrosis

Advanced Inhalation Therapies, an Israeli drug development company, announced today that it has begun enrollment in Israel for a multicenter, open label, Phase II clinical trial of NOxCureCF, a respiratory treatment for patients with cystic fibrosis.

8 Jan 2014

Horizon, AstraZeneca partner to explore oncology-relevant genotypes to identify novel drug targets

Horizon Discovery and AstraZeneca have entered into a research, collaboration and license agreement to explore a range of oncology-relevant genotypes with the aim of identifying and validating a number of novel drug targets. This deal is the second collaboration between AstraZeneca and Horizon, and follows the announcement in April 2013 of an oncology discovery program to explore Horizon's first-in-class kinase target program, HD-001.

7 Jan 2014

EMA accepts Otsuka's marketing authorisation application for tolvaptan for treatment of ADPKD

Otsuka Pharmaceutical Co., Ltd. announced today that the European Medicines Agency (EMA) has accepted the submission of a marketing authorisation application (MAA) for the potential approval of tolvaptan for the treatment of autosomal dominant polycystic kidney disease (ADPKD).

27 Dec 2013

Scientists find inhibiting action of BRD4 protein may eradicate rare type of soft-tissue cancer

A deadly, rare type of soft-tissue cancer may be completely eradicated simply by inhibiting a key protein involved in its growth, UT Southwestern Medical Center researchers report.

27 Dec 2013

Magnetic nanoparticles-based method uses saliva to screen DNA polymorphism in stroke patients

C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene is a risk factor for stroke. Studies have report a higher C677T homozygosity frequency in Chinese than in Europeans. Usually, the detection of genetic diseases is rather complicated on a large scale owing to the invasive sampling and a cumbersome DNA extraction process.

27 Dec 2013

Changes to LZTR1 gene predispose people to develop schwannomas

Changes to a gene called LZTR1 predispose people to develop a rare disorder where multiple tumors called schwannomas form near nerve pathways, according to a study published today in the journal Nature Genetics and led by researchers from the University of Alabama at Birmingham.

24 Dec 2013

Researchers develop diagnostic nanomachine to screen diseases that have genetic basis

As part of an international research project, a team of researchers has developed a DNA clamp that can detect mutations at the DNA level with greater efficiency than methods currently in use. Their work could facilitate rapid screening of those diseases that have a genetic basis, such as cancer, and provide new tools for more advanced nanotechnology. The results of this research is published this month in the journal ACS Nano.

20 Dec 2013

Genetic Disorder News and Research

Further Reading

Researchers discover genetic mutations that cause deadly lung disease

New insights into cell division could improve knowledge of cancer

Longer looks: Doctor guilt; an abortion provider's hidden record

Alexion Pharmaceuticals reports full year 2013 GAAP and non-GAAP financial results

USF Health and FORCE receive award from PCORI to develop and expand health data network

Researchers discover new gene involved in severe childhood epilepsy

Joint research program in SMA enters initial stage of clinical development

Research findings may offer new therapeutic target for management of Gaucher diseas

IRCM researchers show importance of DNA architecture in controlling activity of genes

New dye more effective in detecting, measuring cardiolipin in cell membranes

Sequenom signs national agreement to provide coverage for MaterniT21™ PLUS test

Researchers reveal newest weapon to visualize shape and motion of RNA

Biogen Idec, Sangamo BioSciences partner to develop therapeutics for hemoglobinopathies

AIT initiates Phase II clinical trial of NOxCureCF for patients with cystic fibrosis

Horizon, AstraZeneca partner to explore oncology-relevant genotypes to identify novel drug targets

EMA accepts Otsuka's marketing authorisation application for tolvaptan for treatment of ADPKD

Scientists find inhibiting action of BRD4 protein may eradicate rare type of soft-tissue cancer

Magnetic nanoparticles-based method uses saliva to screen DNA polymorphism in stroke patients

Changes to LZTR1 gene predispose people to develop schwannomas

Researchers develop diagnostic nanomachine to screen diseases that have genetic basis

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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