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.

New Internet tool may help analyze genes based on their evolutionary profile

Two major revolutions, one genomic and one in informatics, are completely changing the face of biomedical research. Every day all over the world, millions of genetic sequences -- from disease-related genes to complete genomes of plants, animals, bacteria and viruses -- are resolved, identified and dissected.

26 Jun 2015

Study shows cystic fibrosis is more deadly for Hispanic than non-Hispanic patients

Cystic fibrosis is more deadly for Hispanic than non-Hispanic patients, a disparity that is not explained by differences in their access to health care, according to a new study from the Stanford University School of Medicine.

25 Jun 2015

Genetic Alliance, Claritas Genomics team up to help patients and families participate in rare disease research

Today Claritas Genomics and Genetic Alliance announced a partnership to help patients and families find and participate in relevant research opportunities that will advance understanding of individual genetic disorders and development of new therapies.

24 Jun 2015

Scientific collaboration pinpoints genetic cause of rare form of blindness in newborn babies

A scientific collaboration, involving the Manchester Centre for Genomic Medicine at Saint Mary's Hospital, UK, and the Telethon Institute of Genetics and Medicine in Naples, Italy, has pinpointed the genetic cause of a rare form of blindness, which can present itself as a key-hole shaped defect in the eye in newborn babies.

24 Jun 2015

Nucleoporin proteins play significant role in maintaining embryonic stem cells

What if you found out that pieces of your front door were occasionally flying off the door frame to carry out chores around the house? That's the kind of surprise scientists at the Salk Institute experienced with their recent discovery that nucleoporins -- proteins that act as cellular 'doorways' to help manage what goes in and out of a cell's nucleus -- are actually much bigger players in expressing genes than previously thought.

19 Jun 2015

Improved clinical management results in higher quality of life for patients with neurofibromatosis

A genetic disorder called neurofibromatosis (NF) causes benign tumors to grow on the brain, spinal cord, and other parts of the nervous system.

18 Jun 2015

New article shows taxonomic classification of rare genetic bone disorders based on metabolic phenotypes

An International Osteoporosis Foundation Working Group on Skeletal Rare Diseases has published a new classification of rare genetic metabolic bone disorders (RGMBDs) according to their metabolic pathogenesis.

18 Jun 2015

Simple process for obtaining induced pluripotent stem cells without use of reagents

For their ability to differentiate into other cell types, the embryonic stem cells hold a large potential in the medical industry. Their use, however, poses ethical questions due to the fact that in order to obtain them, it is necessary to destroy the embryo. For this reason, medical researches use the so-called induced pluripotent stem cells (iPSC). In fact, it is possible to reprogram adult cells that can be obtained by simply drawing blood and making them "regress" to a similar state to that of embryonic stem cells.

10 Jun 2015

Amgen to discuss data supporting Repatha BLA for high cholesterol treatment with FDA EMDAC

Amgen today announced that the Company will discuss the data supporting the Repatha (evolocumab) Biologics License Application (BLA) for the treatment of high cholesterol with the U.S. Food and Drug Administration's (FDA) Endocrinologic and Metabolic Drugs Advisory Committee (EMDAC).

10 Jun 2015

UT Southwestern researchers reveal how the body controls glucose transport

UT Southwestern Medical Center scientists have gleaned a key cellular mechanism of how the body adjusts glucose levels, an important process that when abnormal can promote diabetes, cancer, and rare genetic diseases.

10 Jun 2015

Manchester first to implement Congenica's Sapientia technology to provide fast, accurate diagnosis for genetic diseases

10,000 new patients a year are treated by the Manchester Centre for Genomic Medicine (MCGM) for a range of rare diseases including cancers, developmental disorders and disabilities including hearing and vision loss - diagnosis can be time-consuming and invasive.

10 Jun 2015

OGT launches new arrays for developmental disorders at ESHG

Oxford Gene Technology (OGT), The Molecular Genetics Company, is today launching a new range of arrays at the European Society of Human Genetics (ESHG) Conference in Glasgow, UK, that are dedicated to elucidating the underlying causes of developmental delay.

From Oxford Gene Technology 10 Jun 2015

Apitope's ATX-F8-117 granted FDA Orphan Drug Designation for treatment of haemophilia A patients

Apitope, the drug discovery and development company focused on disease-modifying treatments that reinstate immune tolerance, announced today that pre-clinical product candidate ATX-F8-117 has been granted Orphan Drug Status by the US Food and Drug Administration for the prevention or treatment of inhibitors in haemophilia A patients with inhibitors or at the risk of producing inhibitors.

9 Jun 2015

New technique slows progression of polycystic kidney disease in mice

A new technique for treating polycystic kidney disease has been identified by researchers based at the UCL Institute of Child Health. Published in the Journal of the American Society of Nephrology, the treatment, which involves targeting tiny blood and lymphatic vessels inside the kidneys, is shown to improve renal function and slow progression of disease in mice.

8 Jun 2015

Rhythm announces initiation of two setmelanotide Phase 2 trials for treatment of PWS, POMC-null obesity

Rhythm announced today the initiation of two Phase 2 clinical trials focused on evaluating the safety and effectiveness of setmelanotide (RM-493), the company's novel melanocortin 4 receptor (MC4R) agonist, for the treatment of Prader-Willi Syndrome (PWS) and POMC-null obesity.

4 Jun 2015

Manchester, UCL researchers discover new technique for treating polycystic kidney disease

A new technique for treating polycystic kidney disease has been identified by researchers at The University of Manchester and UCL.

3 Jun 2015

Scientists uncover role of HTRA3 protease in Cockayne syndrome

Scientists from the Institut Pasteur and CNRS, in collaboration with scientists from the Institut Gustave Roussy and CEA, have succeeded in restoring normal activity in cells isolated from patients with the premature aging disease Cockayne syndrome. They have uncovered the role played in these cells by an enzyme, the HTRA3 protease.

22 May 2015

University of Missouri researchers identify key protein component that causes cystic fibrosis

Nearly 70,000 people worldwide are living with cystic fibrosis, a life-threatening genetic disease. There currently is no cure for the condition, but researchers from the University of Missouri have identified a key component in the protein that causes the disease. It is a finding that may lay the foundation for the development of new medications and improved therapies.

19 May 2015

Two-drug combination improves lung function in some cystic fibrosis patients

The combination of two drugs — an investigational drug used in conjunction with an already FDA-approved medication — improved lung function in patients with one form of cystic fibrosis, according to two new studies.

19 May 2015

Combined therapy shows promise in cystic fibrosis patients

Treatment with two medications that target the most common genetic cause of cystic fibrosis improves lung function and lowers the rate of pulmonary exacerbations, according to the results from a Phase III international clinical trial published online in the New England Journal of Medicine on May 17, 2015.

17 May 2015

Genetic Disorder News and Research

Further Reading

New Internet tool may help analyze genes based on their evolutionary profile

Study shows cystic fibrosis is more deadly for Hispanic than non-Hispanic patients

Genetic Alliance, Claritas Genomics team up to help patients and families participate in rare disease research

Scientific collaboration pinpoints genetic cause of rare form of blindness in newborn babies

Nucleoporin proteins play significant role in maintaining embryonic stem cells

Improved clinical management results in higher quality of life for patients with neurofibromatosis

New article shows taxonomic classification of rare genetic bone disorders based on metabolic phenotypes

Simple process for obtaining induced pluripotent stem cells without use of reagents

Amgen to discuss data supporting Repatha BLA for high cholesterol treatment with FDA EMDAC

UT Southwestern researchers reveal how the body controls glucose transport

Manchester first to implement Congenica's Sapientia technology to provide fast, accurate diagnosis for genetic diseases

OGT launches new arrays for developmental disorders at ESHG

Apitope's ATX-F8-117 granted FDA Orphan Drug Designation for treatment of haemophilia A patients

New technique slows progression of polycystic kidney disease in mice

Rhythm announces initiation of two setmelanotide Phase 2 trials for treatment of PWS, POMC-null obesity

Manchester, UCL researchers discover new technique for treating polycystic kidney disease

Scientists uncover role of HTRA3 protease in Cockayne syndrome

University of Missouri researchers identify key protein component that causes cystic fibrosis

Two-drug combination improves lung function in some cystic fibrosis patients

Combined therapy shows promise in cystic fibrosis patients

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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