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.

Scientists use new technology to study whole genome to find the cause of genetic disease

For the first time, scientists have used new technology which analyses the whole genome to find the cause of a genetic disease in what was previously referred to as "junk DNA".

11 Nov 2013

Scientists receive $1.2M grants to explore development of AD in individuals with Down syndrome

Donna Wilcock of the University of Kentucky Sanders-Brown Center on Aging is the lead investigator on a recently-funded project exploring the links between Alzheimer's disease and Down Syndrome. Elizabeth Head, also of Sanders-Brown Center on Aging, is a co-investigator on the project.

10 Nov 2013

University of Adelaide research uses special adult stem cells to treat Hurler's syndrome

University of Adelaide research using special adult stem cells is promising new hope for better treatments for the devastating genetic disease Hurler's syndrome.

7 Nov 2013

New study could help lead to prevention and treatment of heart failure in diabetics

Researchers from the University of Texas Medical Branch at Galveston have discovered one of the pathogenic components of diabetes in the heart, as published in the Journal of Biological Chemistry.

7 Nov 2013

Scientists investigate combined action of two different compounds against CML

Currently no treatment option is available for five percent of patients suffering from chronic myelogenous leukemia, since they have developed resistance to conventional medications. Prof. Stephan Grzesiek's group at the Biozentrum of the University of Basel, in collaboration with Dr. Wolfgang Jahnke and colleagues from Novartis, has investigated the combined action of two different compounds against this form of leukemia.

6 Nov 2013

Research findings could offer new insights into how defective cells can multiply in diseases

A rudimentary form of life that is found in some of the harshest environments on earth is able to sidestep normal replication processes and reproduce by the back door, researchers at The University of Nottingham have found.

5 Nov 2013

Researchers overcome obstacle to using viruses to deliver therapeutic genes

Scientists in The Research Institute at Nationwide Children's Hospital have found a way to overcome one of the biggest obstacles to using viruses to deliver therapeutic genes: how to keep the immune system from neutralizing the virus before it can deliver its genetic payload. In a study published recently in Molecular Therapy, researchers found that giving subjects a treatment to temporarily rid the body of antibodies provides the virus safe passage to targeted cells, allowing it to release a corrective or replacement gene to treat disease.

30 Oct 2013

Research provides better understanding of molecular interactions related to cystic fibrosis

Research in the College of Veterinary Medicine at Kansas State University is leading to a better understanding of the molecular interactions in the thyroid gland related to cystic fibrosis.

30 Oct 2013

Research unlocks secrets of mouse behavior to help identify promising psychiatric drugs

Developing psychiatric medications is a long and complex process. Candidate drugs are evaluated and assessed based on their effects on the behavior of animals, usually rats or mice. Each class of drugs, from antidepressants to antipsychotics, is tested differently - often in a labor-intensive process that leaves plenty of room for human error. And there is a growing consensus that current procedures fail to effectively produce new medications.

25 Oct 2013

Scientists find disparities in regulation of transposons between humans and non-human primate cells

Researchers at the Salk Institute for Biological Studies have, for the first time, taken chimpanzee and bonobo skin cells and turned them into induced pluripotent stem cells, a type of cell that has the ability to form any other cell or tissue in the body.

24 Oct 2013

eXtasy software suite quickly and accurately traces origins of genetic disorders

In a bioinformatics breakthrough, iMinds - STADIUS - KU Leuven researchers have successfully applied advanced artificial intelligence to enable the automated analysis of huge amounts of genetic data.

23 Oct 2013

Study highlights new treatment options for neurodevelopmental disorders like TSC

Clemson University scientists are working to determine how neurons are generated, which is vital to providing treatment for neurological disorders like Tuberous Sclerosis Complex (TSC).

23 Oct 2013

Illumina announces launch of TruGenome Undiagnosed Disease Test

Illumina, Inc. today announced the launch of its TruGenome Undiagnosed Disease Test provided by the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory.

From Illumina, Inc. 22 Oct 2013

U.K. Organizations Partner With Illumina To Sequence 10,000 Whole Genomes

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From Illumina, Inc. 21 Oct 2013

UCLA study uncovers biological clock that may shed light on why our bodies age

Everyone grows older, but scientists don't really understand why. Now a UCLA study has uncovered a biological clock embedded in our genomes that may shed light on why our bodies age and how we can slow the process.

21 Oct 2013

New collaborative project aims to discover genes underlying rare genetic diseases

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21 Oct 2013

New research identifies internal timepiece that accurately gauge age of human organs and tissues

21 Oct 2013

Research Institute receives Fast Track status for its gene therapy product for treatment of SMA

AveXis and BioLife, synthetic biology platform companies, today announced that The Research Institute at Nationwide Children's Hospital received Fast Track designation from the U.S. Food and Drug Administration for its scAAV9.CB.SMN gene therapy product for the treatment of spinal muscular atrophy (SMA).

19 Oct 2013

National survey reveals misconceptions about miscarriage

The majority of Americans inaccurately believe miscarriage is rare and misunderstand its causes, creating an often isolating and guilt-ridden experience for those who experience it. These are the findings in the first-ever national survey to assess attitudes and perceptions towards miscarriage, which was conducted by researchers at Montefiore Medical Center and the Albert Einstein College of Medicine of Yeshiva University.

18 Oct 2013

Research: Zebrafish exhibits same developmental issues as humans

Duke researchers have connected very rare and precise duplications and deletions in the human genome to their complex disease consequences by duplicating them in zebrafish.

18 Oct 2013

Genetic Disorder News and Research

Further Reading

Scientists use new technology to study whole genome to find the cause of genetic disease

Scientists receive $1.2M grants to explore development of AD in individuals with Down syndrome

University of Adelaide research uses special adult stem cells to treat Hurler's syndrome

New study could help lead to prevention and treatment of heart failure in diabetics

Scientists investigate combined action of two different compounds against CML

Research findings could offer new insights into how defective cells can multiply in diseases

Researchers overcome obstacle to using viruses to deliver therapeutic genes

Research provides better understanding of molecular interactions related to cystic fibrosis

Research unlocks secrets of mouse behavior to help identify promising psychiatric drugs

Scientists find disparities in regulation of transposons between humans and non-human primate cells

eXtasy software suite quickly and accurately traces origins of genetic disorders

Study highlights new treatment options for neurodevelopmental disorders like TSC

Illumina announces launch of TruGenome Undiagnosed Disease Test

U.K. Organizations Partner With Illumina To Sequence 10,000 Whole Genomes

UCLA study uncovers biological clock that may shed light on why our bodies age

New collaborative project aims to discover genes underlying rare genetic diseases

New research identifies internal timepiece that accurately gauge age of human organs and tissues

Research Institute receives Fast Track status for its gene therapy product for treatment of SMA

National survey reveals misconceptions about miscarriage

Research: Zebrafish exhibits same developmental issues as humans

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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