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.

Quest Diagnostics to provide whole exome sequencing service to diagnose neurological disorders

Quest Diagnostics, the world's leading provider of diagnostic information services, today announced the availability of Neurome, a whole exome sequencing service designed to aid the diagnosis of rare neurological disorders in pediatric populations.

From Quest Diagnostics 10 Mar 2015

UIC researchers identify genetic variation that increases MS risk in women

Researchers at the University of Illinois at Chicago have identified a genetic variation that in women significantly increases their risk of developing multiple sclerosis.

5 Mar 2015

Finding may help advance experimental approach to improving public health

Scientists have discovered a new way to manipulate how cells function, a finding that might help advance an experimental approach to improving public health: DNA vaccines, which could be more efficient, less expensive and easier to store than traditional vaccines.

5 Mar 2015

CHOPS syndrome sheds light on key biological processes during human development

Analyzing a puzzling multisystem disorder in three children, genetic experts have identified a new syndrome, shedding light on key biological processes during human development. The research also provides important information to help caregivers manage the disorder, and may offer clues to eventually treating it.

3 Mar 2015

EMA's CHMP backs JINARC (tolvaptan) for autosomal dominant polycystic kidney disease

Otsuka Pharmaceutical Co., Ltd. announced today that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency has recommended JINARC (tolvaptan) for approval.

3 Mar 2015

U-M researchers reveal key role of two enzymes that help the body to remove cholesterol, other lipids

With the aid of X-ray crystallography, researchers at the University of Michigan have revealed the structures of two closely related enzymes that play essential roles in the body's ability to metabolize excess lipids, including cholesterol.

2 Mar 2015

Minihepcidin reverses iron overload of hemochromatosis, stops susceptibility to infections

Hemochromatosis (HH) is the most common genetic disorder in the western world, and yet is barely known. Only in the US 1 in 9 people carry the mutation (although not necessarily the disease).

2 Mar 2015

Genetic decanalization can lead to complex genetic diseases in humans

The information encoded in the DNA of an organism is not sufficient to determine the expression pattern of genes. This fact has been known even before the discovery of epigenetics, which refers to external modifications to the DNA that turn genes "on" or "off".

28 Feb 2015

Drosophila Research Conference to highlight recent advances in genetics research

Over 1,500 scientists from 30 countries and 46 states will attend next week's 56th Annual Drosophila Research Conference organized by the Genetics Society of America, March 4–8 in Chicago, IL.

28 Feb 2015

Scientists detect new molecule that contributes to development of liver fibrosis

Liver fibrosis, which is the progressive formation of scar tissue in the liver, is a massive medical problem. An estimated ten percent of the population is affected by liver fibrosis or its corresponding later stage, liver cirrhosis. A variety of causes can lead to liver fibrosis, the most widely recognized ones being alcohol consumption and virus-induced chronic liver inflammation.

25 Feb 2015

Isis Pharmaceuticals announces positive results from Phase 1 study of ISIS-PKK Rx for HAE treatment

Isis Pharmaceuticals, Inc. announced today positive results from a Phase 1 study with ISIS-PKKRx. In this study, healthy volunteers treated with ISIS-PKKRx achieved dose-dependent reductions of up to 95 percent in prekallikrein, or PKK. ISIS-PKKRx is a RNA-targeted antisense drug designed to inhibit the production of PKK for the prophylactic treatment of hereditary angioedema (HAE).

24 Feb 2015

Study helps solve mystery about how genetic variations can increase cancer risk

Single-letter genetic variations within parts of the genome once dismissed as 'junk DNA' can increase cancer risk through wormhole-like effects on far-off genes, new research shows.

19 Feb 2015

Possible cause of liver disease identified in adolescents with cystic fibrosis

A professor at the University of Colorado School of Medicine at the Anschutz Medical Campus and his colleagues have found a possible cause of liver disease in adolescents with cystic fibrosis.

19 Feb 2015

Eliglustat drug improves liver, spleen size and hemoglobin level in adults with Gaucher disease type 1

Among previously untreated adults with Gaucher disease type 1, a genetic disease in which there is improper metabolism due to a defect in an enzyme, treatment with the drug eliglustat resulted in significant improvements in liver and spleen size hemoglobin level, and platelet count, according to a study in the February 17 issue of JAMA.

18 Feb 2015

UT Arlington chemist receives NIH's Academic Research Enhancement Award for protein research

A University of Texas at Arlington bio-analytical chemist exploring proteins, their structures and functions by using cutting-edge analytical instrumentation called mass spectrometry has received an Academic Research Enhancement Award from the National Institutes of Health.

18 Feb 2015

Public health researchers report frequency of two muscle-weakness disorders

Researchers in public health have reported in the first broad study in the United States the frequency of two muscle-weakness disorders that strike mostly boys: Duchenne muscular dystrophy and Becker muscular dystrophy.

16 Feb 2015

Study shows that de novo mutations can be detected in human in vitro fertilized embryos using PGD

Reprogenetics, the largest U.S. genetics laboratory specializing in Preimplantation Genetic Diagnosis (PGD), announced today the publication of new clinical data in the March issue of Genome Research demonstrating that de novo single base mutations can be detected in embryos after in vitro fertilization (IVF).

16 Feb 2015

Researchers discover molecular 'switch' that controls replication, transcription of mitochondria DNA

A team of researchers led by Dmitry Temiakov, PhD, of the Rowan University School of Osteopathic Medicine (RowanSOM), has discovered a molecular 'switch' that controls replication and transcription of mitochondria DNA, a key finding that could influence the development of targeted therapies for cancer, developmental processes related to fertility and aging.

16 Feb 2015

Scientists find seven new genes that can cause X-linked intellectual disability

X-linked intellectual disability is a disorder that predominantly affects men and can have highly variable clinical manifestations. Scientists at the Max Planck Institute for Molecular Genetics in Berlin have found seven new genes that can cause this genetic disease: Mutations of these genes on the X chromosome lead to various forms of intellectual disability.

15 Feb 2015

Scientists identify new cellular pathway affected in cystinosis

Scientists at The Scripps Research Institute have identified a new cellular pathway that is affected in cystinosis, a rare genetic disorder that can result in eye and kidney damage.

11 Feb 2015

Genetic Disorder News and Research

Further Reading

Quest Diagnostics to provide whole exome sequencing service to diagnose neurological disorders

UIC researchers identify genetic variation that increases MS risk in women

Finding may help advance experimental approach to improving public health

CHOPS syndrome sheds light on key biological processes during human development

EMA's CHMP backs JINARC (tolvaptan) for autosomal dominant polycystic kidney disease

U-M researchers reveal key role of two enzymes that help the body to remove cholesterol, other lipids

Minihepcidin reverses iron overload of hemochromatosis, stops susceptibility to infections

Genetic decanalization can lead to complex genetic diseases in humans

Drosophila Research Conference to highlight recent advances in genetics research

Scientists detect new molecule that contributes to development of liver fibrosis

Isis Pharmaceuticals announces positive results from Phase 1 study of ISIS-PKK Rx for HAE treatment

Study helps solve mystery about how genetic variations can increase cancer risk

Possible cause of liver disease identified in adolescents with cystic fibrosis

Eliglustat drug improves liver, spleen size and hemoglobin level in adults with Gaucher disease type 1

UT Arlington chemist receives NIH's Academic Research Enhancement Award for protein research

Public health researchers report frequency of two muscle-weakness disorders

Study shows that de novo mutations can be detected in human in vitro fertilized embryos using PGD

Researchers discover molecular 'switch' that controls replication, transcription of mitochondria DNA

Scientists find seven new genes that can cause X-linked intellectual disability

Scientists identify new cellular pathway affected in cystinosis

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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