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.

MD Anderson researchers find high prevalence of hereditary CRC among people diagnosed before the age of 35

Hereditary colorectal cancers, caused by inherited gene mutations, are relatively rare for most patients. However, researchers at The University of Texas MD Anderson Cancer Center have discovered a particularly high prevalence of hereditary cancers among those diagnosed with the disease before the age of 35. They suggest that these patients should undergo genetic counseling to determine if their families may be at an elevated risk.

21 Jul 2015

New approach holds great promise for developing effective treatments for human mitochondrial diseases

Using existing drugs, such as lithium, to restore basic biological processes in human cells and animal models, researchers may have broken a long-standing logjam in devising effective treatments for human mitochondrial diseases.

21 Jul 2015

New research reveals how DNA influences severity of any genetic disease

That two people with the same disease-causing mutation do not get sick to the same extent has been puzzling scientists for decades. Now Professor Andy Fraser and his team have uncovered a key part of what makes every patient different.

17 Jul 2015

Genetic mutation associated with severe loss of body fat, appearance of premature aging in children identified

Researchers at the Translational Genomics Research Institute have identified a genetic mutation associated with the appearance of premature aging and severe loss of body fat in children.

17 Jul 2015

OGT’s popular ESHG workshop free to view online

Oxford Gene Technology (OGT), The Molecular Genetics Company, has made its European Human Genetics (ESHG) Conference workshop freely available to view online.

From Oxford Gene Technology 16 Jul 2015

Salk researchers move one step closer to making cures for genetic diseases a reality

Healthy brain, muscle, eye and heart cells would improve the lives of tens of thousands of people around the world with debilitating mitochondrial diseases. Now, researchers at the Salk Institute have gotten one step closer to making such cures a reality: they've turned cells from patients into healthy, mutation-free stem cells that can then become any cell type.

16 Jul 2015

International research team identifies new gene associated with 4H leukodystrophy

Leukodystrophies are deadly neurodegenerative diseases that affect one in 7,000 children and remain incurable. These genetic diseases attack myelin or the "insulating rubber sheath" surrounding neurons, which leads to deteriorating health for affected children.

9 Jul 2015

UK study suggests new approach to develop highly-potent drugs

A new study led by University of Kentucky researchers suggests a new approach to develop highly-potent drugs which could overcome current shortcomings of low drug efficacy and multi-drug resistance in the treatment of cancer as well as viral and bacterial infections.

9 Jul 2015

SISSA scientists create synthetic enzymes that can differentiate between active and inactive genes

Certain genetic diseases arise from a deficit of specific genes. An enzyme that amplifies gene transcription could be a viable therapy in these cases, as long as genes are not stimulated to work on the wrong part of the body. SISSA scientists have created synthetic "intelligent" enzymes which are able to differentiate between active and inactive genes and selectively stimulate the former ones.

8 Jul 2015

Akcea Therapeutics obtains FDA Orphan Drug Designation for volanesorsen

Akcea Therapeutics, a wholly-owned subsidiary of Isis Pharmaceuticals, Inc., announced today that the U.S. Food and Drug Administration has granted Orphan Drug Designation to volanesorsen (ISIS-APOCIIIRx) for the treatment of patients with Familial Chylomicronemia Syndrome (FCS).

6 Jul 2015

Afamelanotide treatment improves quality of life in people with erythropoietic protoporphyria

A novel synthetic hormone that makes certain skin cells produce more melanin significantly increases pain-free sun exposure in people with erythropoietic protoporphyria, a rare, genetic disorder resulting in excruciating pain within minutes of sun exposure.

3 Jul 2015

New imaging technique helps pinpoint significant event that leads to age-related chromosomal errors

When egg cells form with an incorrect number of chromosomes--a problem that increases with age--the result is usually a miscarriage or a genetic disease such as Down syndrome.

2 Jul 2015

Study offers potential ways to preserve muscle mass and strength for people in low-resistance environments

It is well known that muscles need resistance (gravity) to maintain optimal health, and when they do not have this resistance, they deteriorate. A new report published in the July 2015 issue of The FASEB Journal, however, suggests that this might not be true for all muscles, offering hope that there may be ways to preserve muscle mass and strength for individuals in low-resistance environments, whether it be the microgravity of space, extended periods in a hospital bed, or a 9-5 job behind a desk.

1 Jul 2015

UVA Health System opens high-tech clinical genomics lab

The University of Virginia Health System has opened a high-tech clinical genomics lab that will personalize care for patients, help doctors determine the best treatments for cancers and other diseases, and allow UVA to offer the most cutting-edge clinical trials.

1 Jul 2015

Imperial College London researchers discover new inherited form of obesity, type 2 diabetes

Scientists have discovered a new inherited form of obesity and type 2 diabetes in humans. A large number of genes are involved in regulating body weight, and there are now over 30 genes known in which people with harmful changes in DNA sequence become extremely overweight. Similarly, there are a number of genes that can, when altered, cause type 2 diabetes. These conditions are inherited through families in exactly the same way as disorders such as cystic fibrosis or Huntington's disease.

30 Jun 2015

Researchers identify better way to screen for lung cancer

The Valley Hospital in Ridgewood, NJ, is pleased to announce that two of its oncologists and a research scientist are helping pave the way to an easier, more accurate, less invasive way to screen for the most common form of lung cancer. Lung cancer is the most common cancer in men worldwide and the number one cancer killer in the United States.

30 Jun 2015

Canada's first human gene therapy trial for choroideremia now underway at Royal Alexandra Hospital

Canada's first human gene therapy trial for eyes -- the replacement of a faulty gene with a healthy one -- is now underway at the Royal Alexandra Hospital to preserve and potentially restore vision for people with a genetic disorder that leaves them blind by middle age.

30 Jun 2015

Kay E. Davies named recipient of ASHG's 2015 William Allan Award

The American Society of Human Genetics has named Kay E. Davies, DPhil, Dr. Lee's professor of anatomy, associate head of the medical sciences division; and director of the Medical Research Council Functional Genomics Unit in the department of physiology, anatomy and genetics at the University of Oxford, the 2015 recipient of the annual William Allan Award.

30 Jun 2015

Two physician-scientists in search for better Alzheimer's disease treatment

Two of the nation's leading physician-scientists in the search to better understand and treat Alzheimer's disease - William Mobley, MD, PhD, and Michael Rafii, MD, PhD - have been named interim co-directors of the Alzheimer's Disease Cooperative Study (ADCS), a major initiative formed in 1991 as a cooperative agreement between the National Institute on Aging (NIA) and the University of California, San Diego.

27 Jun 2015

Innovative gene transfer-based treatment for kids with giant axonal neuropathy

University of North Carolina School of Medicine researchers have developed an innovative, experimental gene transfer-based treatment for children with giant axonal neuropathy (GAN).

26 Jun 2015

Genetic Disorder News and Research

Further Reading

MD Anderson researchers find high prevalence of hereditary CRC among people diagnosed before the age of 35

New approach holds great promise for developing effective treatments for human mitochondrial diseases

New research reveals how DNA influences severity of any genetic disease

Genetic mutation associated with severe loss of body fat, appearance of premature aging in children identified

OGT’s popular ESHG workshop free to view online

Salk researchers move one step closer to making cures for genetic diseases a reality

International research team identifies new gene associated with 4H leukodystrophy

UK study suggests new approach to develop highly-potent drugs

SISSA scientists create synthetic enzymes that can differentiate between active and inactive genes

Akcea Therapeutics obtains FDA Orphan Drug Designation for volanesorsen

Afamelanotide treatment improves quality of life in people with erythropoietic protoporphyria

New imaging technique helps pinpoint significant event that leads to age-related chromosomal errors

Study offers potential ways to preserve muscle mass and strength for people in low-resistance environments

UVA Health System opens high-tech clinical genomics lab

Imperial College London researchers discover new inherited form of obesity, type 2 diabetes

Researchers identify better way to screen for lung cancer

Canada's first human gene therapy trial for choroideremia now underway at Royal Alexandra Hospital

Kay E. Davies named recipient of ASHG's 2015 William Allan Award

Two physician-scientists in search for better Alzheimer's disease treatment

Innovative gene transfer-based treatment for kids with giant axonal neuropathy

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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