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.

Loss of key proteins may account for molecular abnormalities associated with myotonic dystrophy

Research on the genetic defect that causes myotonic muscular dystrophy has revealed that the mutation disrupts an array of metabolic pathways in muscle cells through its effects on two key proteins.

24 Jan 2010

Simple, five minute saliva test to determine baby's risk for more than 100 life-threatening genetic diseases

Genetic diseases like those seen in the new Harrison Ford movie "Extraordinary Measures" can now be prevented with a simple saliva test which is free with insurance for more than 100 million Americans.

22 Jan 2010

Seven-time PGA TOUR winner designates funds to the National Fragile X Foundation

Seven-time PGA TOUR winner Steve Stricker has recently designated a check in the amount of $10,000 to the National Fragile X Foundation. This contribution is a portion of the charitable proceeds generated from The Presidents Cup 2009 at Harding Park Golf Course in San Francisco, California, in which Stricker participated as a member of the victorious U.S. Team for the third time in his career.

22 Jan 2010

Combination of saliva test with ultra high-tech biopsy process may help prevent genetic disorders

Florida's largest fertility clinic announced it is the first in the state to offer promising new tests against birth defects: a coupling of technologies that will allow couples to avoid passing along more than 100 genetic diseases to their newborn.

22 Jan 2010

Study lays groundwork to develop new treatments for cardiovascular disease and other conditions

In a significant step toward restoring healthy blood circulation to treat a variety of diseases, a team of scientists at Weill Cornell Medical College has developed a new technique and described a novel mechanism for turning human embryonic and pluripotent stem cells into plentiful, functional endothelial cells, which are critical to the formation of blood vessels.

21 Jan 2010

Statins may protect SCD children from pneumococcal infection

New research suggests a family of widely used cholesterol-lowering drugs might help protect individuals from serious illness following bacterial infection, including the pneumococcal infections that pose a deadly threat to those with sickle cell disease.

20 Jan 2010

A novel approach for funding children's genetic disease research

Parent Project Muscular Dystrophy together with Trisomy 18 Foundation are among 100 charities that earned a $25,000 grant during Round 1 of the Chase Community Giving Challenge on Facebook.

19 Jan 2010

One of Cystic Fibrosis Foundation's active volunteers to carry Olympic Torch in Calgary

One of the Cystic Fibrosis Foundation's most active volunteers will carry the Olympic Torch today in Calgary as it makes its way to Vancouver for the Opening Ceremony of the 2010 Olympic Winter Games.

19 Jan 2010

Hypertrophic Cardiomyopathy: A deadly disease that often goes undetected

The tragic news of Chicago Bears defensive end Gaines Adams, 26, and Southern Indiana center Jeron Lewis, 21, whose sudden deaths are both suspected to be from Hypertrophic Cardiomyopathy (HCM), are vital reminders that this deadly disease often goes undetected.

19 Jan 2010

Link between dystrophin gene and age of cardiac disease onset in BMD patients identified

Investigators in The Research Institute at Nationwide Children's Hospital have identified a link between specific modifications of the dystrophin gene and the age of cardiac disease onset in patients with Becker muscular dystrophy (BMD). This information could help clinicians provide early cardiac intervention for BMD patients based on genetic testing results performed on a blood sample. These findings are a result of analysis of the largest number of BMD patients to date and are published in the December issue of the journal Circulation: Cardiovascular Genetics.

18 Jan 2010

Joubert Syndrome - an inherited neurological disease found among Ashkenazi Jews

Two scientists from Cold Spring Harbor Laboratory (CSHL) are part of an international team that has discovered a genetic mutation that causes Joubert Syndrome. JBTS, as it is commonly called, is a devastating inherited neurological disease that is very rare in the general population but found relatively more often among Ashkenazi Jews.

18 Jan 2010

ViroPharma signs agreement with Sanquin Blood Supply Foundation to develop and commercialize Cinryze

ViroPharma Incorporated today announced that it has signed an agreement with Sanquin Blood Supply Foundation for rights to develop, file regulatory dossiers, and commercialize Cinryze(TM) (C1 esterase inhibitor [human]) for hereditary angioedema (HAE) as well as for potential new indications in certain European and rest of world (ROW) territories.

12 Jan 2010

Autism spectrum disorders result from miswiring of connections in developing brain

Studying a rare disorder known as tuberous sclerosis complex (TSC), researchers at Children's Hospital Boston add to a growing body of evidence suggesting that autism spectrum disorders, which affect 25 to 50 percent of TSC patients, result from a miswiring of connections in the developing brain, leading to improper information flow.

10 Jan 2010

Scientific societies to hold Experimental Biology 2010 meeting

Six scientific societies announced they will hold their annual meeting, Experimental Biology (EB 2010; www.experimentalbiology.org), April 24-28, 2010 in Anaheim, CA. The societies are the American Association of Anatomists (AAA), American Physiological Society (APS), American Society for Biochemistry and Molecular Biology (ASBMB), American Society for Investigative Pathology (ASIP), American Society for Nutrition (ASN) and American Society for Pharmacology and Experimental Therapeutics (ASPET).

9 Jan 2010

Scientists identify gene underlying a disease that causes temporary paralysis of skeletal muscle

Scientists have identified a gene underlying a disease that causes temporary paralysis of skeletal muscle. The finding, they say, illustrates how investigations of rare genetic diseases can drive insights into more common ones.

8 Jan 2010

Gene modification of human embryonic stem cells may yield potential treatments for genetic diseases

Biologists have developed an efficient way to genetically modify human embryonic stem cells. Their approach, which uses bacterial artificial chromosomes to swap in defective copies of genes, will make possible the rapid development of stem cell lines that can both serve as models for human genetic diseases and as testbeds on which to screen potential treatments, they say.

8 Jan 2010

CRF awards $1.75 million in 11 new grants to researchers to find a cure for cystinosis

The Cystinosis Research Foundation of Irvine, Calif., announced it awarded $1.75 million in 11 new grants to researchers in the United States, Canada, Belgium and Italy who are working to find a cure for cystinosis, a rare, deadly metabolic and genetic disease that afflicts about 500 children and young adults in the U.S. and 2,000 worldwide.

7 Jan 2010

CLSI’s document provides revised guidelines for screening cystic fibrosis

Clinical and Laboratory Standards Institute (CLSI) recently published Sweat Testing: Sample Collection and Quantitative Chloride Analysis; Approved Guideline—Third Edition (C34-A3). This document addresses appropriate methods of collection and analysis, quality control, and the evaluation and reporting of sweat test results for the diagnosis of cystic fibrosis.

7 Jan 2010

UAE hosts five-day global health conference

Public health experts and researchers from around the world gathered on Monday for a five-day conference at the United Arab Emirates University (UAEU) in Al Ain, UAE, to discuss the role of the Middle East in tackling global health issues, AMEinfo.com reports.

5 Jan 2010

NFXF applauds the Congress and President for including Fragile X Syndrome for research funding

The National Fragile X Foundation applauds the United States Congress and President Barack Obama for including Fragile X Syndrome for the first time ever within a select group of conditions eligible for research funding from the U.S. Department of Defense.

30 Dec 2009

Genetic Disorder News and Research

Further Reading

Loss of key proteins may account for molecular abnormalities associated with myotonic dystrophy

Simple, five minute saliva test to determine baby's risk for more than 100 life-threatening genetic diseases

Seven-time PGA TOUR winner designates funds to the National Fragile X Foundation

Combination of saliva test with ultra high-tech biopsy process may help prevent genetic disorders

Study lays groundwork to develop new treatments for cardiovascular disease and other conditions

Statins may protect SCD children from pneumococcal infection

A novel approach for funding children's genetic disease research

One of Cystic Fibrosis Foundation's active volunteers to carry Olympic Torch in Calgary

Hypertrophic Cardiomyopathy: A deadly disease that often goes undetected

Link between dystrophin gene and age of cardiac disease onset in BMD patients identified

Joubert Syndrome - an inherited neurological disease found among Ashkenazi Jews

ViroPharma signs agreement with Sanquin Blood Supply Foundation to develop and commercialize Cinryze

Autism spectrum disorders result from miswiring of connections in developing brain

Scientific societies to hold Experimental Biology 2010 meeting

Scientists identify gene underlying a disease that causes temporary paralysis of skeletal muscle

Gene modification of human embryonic stem cells may yield potential treatments for genetic diseases

CRF awards $1.75 million in 11 new grants to researchers to find a cure for cystinosis

CLSI’s document provides revised guidelines for screening cystic fibrosis

UAE hosts five-day global health conference

NFXF applauds the Congress and President for including Fragile X Syndrome for research funding

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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