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.

Gene containing 'minisatellite' plays key role in driving human DNA diversity

One of the key drivers of human evolution and diversity, accounting for changes that occur between different generations of people, is explained by new research published today (Sept 5) by world-renowned scientist Professor Sir Alec Jeffreys, who discovered DNA fingerprinting at the University of Leicester.

6 Sep 2010

PennHIP radiographic method may hold potential to evaluate human susceptibility to hip dysplasia

A study comparing a University of Pennsylvania method for evaluating a dog's susceptibility to hip dysplasia to the traditional American method has shown that 80 percent of dogs judged to be normal by the traditional method are actually at risk for developing osteoarthritis and hip dysplasia, according to the Penn method.

4 Sep 2010

Californians recognized for contributing to plasma protein lifesaving therapies

This month, Californians are recognized for their outstanding contributions to lifesaving therapies that treat critically ill individuals and for their donations of the blood component, plasma, that makes the creation of these unique therapies possible.

3 Sep 2010

Dedicated web site for PKU medical education to be launched at 2010 SSIEM Annual Symposium

PKU specialists around the world can now count on a brand-new, authoritative website entirely dedicated to this rare genetic disorder, which affects one out of every 10,000 to 20,000 live births worldwide.

31 Aug 2010

New high throughput sequencing technology to identify genetic defects in rare diseases

The majority of rare diseases are hereditary. But despite significant progress in genome research, in most cases their exact cause remains unclear. The discovery of the underlying genetic defect is, however, a prerequisite for their definitive diagnosis and the development of innovative approaches to their treatment. Scientists at the Max Planck Institute for Molecular Genetics and the Institute of Medical Genetics at the Charit- Universit-tsmedizin - Berlin have succeeded in using a new process with which all of the genes in the human genome can be analysed simultaneously.

30 Aug 2010

Luminex launches FDA-cleared xTAG Cystic Fibrosis 60 Kit v2 diagnostic test

Luminex Corporation, the worldwide leader in multiplexed solutions, today announced the full commercial launch of its xTAG Cystic Fibrosis 60 Kit v2, a new diagnostic test that can simultaneously screen a single blood sample for up to 60 cystic fibrosis-causing genetic mutations in a matter of hours.

From Thermo Fisher Scientific Inc. 27 Aug 2010

Battery of tests for quick assessment of cognitive abilities in Down syndrome patients

Neuroscientists in the Down Syndrome Research Group at the University of Arizona have created a battery of tests that quickly aid in the assessment of the cognitive abilities of persons with Down syndrome.

27 Aug 2010

Worldwide conference to discuss increase in autism, help restore health

The Centers for Disease Control and Prevention (CDC) recently released new estimates that one in every 110 children (1 in 70 boys) is diagnosed with autism. Autism has become more common in our children than cancer, diabetes and AIDS combined. Autism affects children from all socioeconomic and ethnic backgrounds and places a tremendous economic burden on affected families and society at large, costing up to $3.2 million per child for a lifetime of care and over $35 billion in annual societal cost.

26 Aug 2010

Developing specific liver cell lines from stem cells holds promise for new liver disease treatment: Researchers

By creating diseased liver cells from a small sample of human skin, scientists have for the first time shown that stem cells can be used to model a diverse range of inherited disorders. The University of Cambridge researchers' findings, which will hopefully lead to new treatments for those suffering from liver diseases, were published today in The Journal of Clinical Investigation.

26 Aug 2010

Gene linked to Fuchs corneal dystrophy discovered

A 13-member research team led by University of Oregon scientist Dr. Albert O. Edwards has found a gene likely responsible for Fuchs corneal dystrophy, an inheritable genetic disorder and leading cause of corneal transplant operations.

26 Aug 2010

Scientists discover Magnetic Resonance Spectroscopy can rapidly diagnose degenerative disorders

Magnetic Resonance Spectroscopy can distinguish between neurological diseases in patients without clear symptoms.A team of American scientists claim that a new method of testing for neurological diseases could provide doctors with a rapid and non-invasively method of diagnosing degenerative disorders.

25 Aug 2010

Judge blocks federal funding of human embryonic stem cell research

The Washington Post: "A federal judge on Monday blocked the Obama administration from funding human embryonic stem cell research, ruling that the support violates a federal law barring the use of taxpayer money for experiments that destroy human embryos.

25 Aug 2010

New diagnostic tool proves cost-effective in identifying rare genetic disorders

Mutations in a single gene can cause several types of developmental brain abnormalities that experts have traditionally considered different disorders. With support from the National Institutes of Health, researchers found those mutations through whole exome sequencing - a new gene scanning technology that cuts the cost and time of searching for rare mutations.

23 Aug 2010

Scientists discover genetic flaw that causes facioscapulohumeral muscular dystrophy

Nearly two decades after they identified the specific genetic flaw that causes a common type of muscular dystrophy, scientists believe they have figured out how that flaw brings about the disease. The finding by an international team of researchers settles a longstanding question about the roots of facioscapulohumeral muscular dystrophy or FSHD.

20 Aug 2010

UT Southwestern pediatric urologist pioneers surgical procedure for girls with rare vaginal defects

A pediatric urologist at UT Southwestern Medical Center has pioneered a successful surgical procedure for young girls who have absent or malformed vaginas, a condition that affects about one in 4,000 females.

19 Aug 2010

Zebrafish-yeast approach for studying copper deficiency, complex multifactorial diseases

Copper deficiency diseases can be devastating. Symptoms can range from crippling neurological degeneration in Menkes disease ,a classic copper deficiency disease to brittle bones, anaemia and defective skin pigmentation in gastric bypass patients. Unfortunately, very little is known about how the body uses this essential nutrient. Knowing that melanocytes (the cells that give rise to hair, skin and eye pigmentation) are dramatically affected by the effects of copper deficiency, Elizabeth Patton from the University of Edinburgh, UK, and other colleagues from UK and US based labs decided to find out how melanocytes metabolise copper.

17 Aug 2010

Parkinson’s disease linked to genetic alteration of immune system: Study

Parkinson’s disease (PD), a severely crippling disease of the nerves and brain has been linked to genes that affect the immune system according to new research. In these patients the immune system may go awry attacking healthy tissues or failing to fight infections that leave people susceptible to the condition scientists say.

16 Aug 2010

Merlin protein controls adult cell activity to cause liver cancer

A protein known to be involved in a rare hereditary cancer syndrome may have a role in the regulation of liver stem cells and the development of liver cancer. In the August 15 issue of Genes & Development, a Massachusetts General Hospital (MGH) research team describes finding that the protein called merlin, encoded by the NF2 (neurofibromatosis type 2) gene, controls the activity of adult stem cells that give rise to the two major types of liver cells.

13 Aug 2010

Dr. Hastings receives grant for Spinal Muscular Atrophy research

Michelle Hastings, PhD, Assistant Professor in the Department of Cell Biology and Anatomy, in the Chicago Medical School of Rosalind Franklin University of Medicine and Science, has been awarded a five-year $1.68 million grant from the National Institutes of Health to support her research aimed at investigating treatments for the fatal children's disease, Spinal Muscular Atrophy (SMA).

11 Aug 2010

Spinal muscular atrophy may lead to cardiac dysfunction: Study

Along with skeletal muscles, it may be important to monitor heart function in patients with spinal muscular atrophy (SMA). These are the findings from a study conducted by Nationwide Children's Hospital and published online ahead of print in Human Molecular Genetics. This is the first study to report cardiac dysfunction in mouse models of SMA.

11 Aug 2010

Genetic Disorder News and Research

Further Reading

Gene containing 'minisatellite' plays key role in driving human DNA diversity

PennHIP radiographic method may hold potential to evaluate human susceptibility to hip dysplasia

Californians recognized for contributing to plasma protein lifesaving therapies

Dedicated web site for PKU medical education to be launched at 2010 SSIEM Annual Symposium

New high throughput sequencing technology to identify genetic defects in rare diseases

Luminex launches FDA-cleared xTAG Cystic Fibrosis 60 Kit v2 diagnostic test

Battery of tests for quick assessment of cognitive abilities in Down syndrome patients

Worldwide conference to discuss increase in autism, help restore health

Developing specific liver cell lines from stem cells holds promise for new liver disease treatment: Researchers

Gene linked to Fuchs corneal dystrophy discovered

Scientists discover Magnetic Resonance Spectroscopy can rapidly diagnose degenerative disorders

Judge blocks federal funding of human embryonic stem cell research

New diagnostic tool proves cost-effective in identifying rare genetic disorders

Scientists discover genetic flaw that causes facioscapulohumeral muscular dystrophy

UT Southwestern pediatric urologist pioneers surgical procedure for girls with rare vaginal defects

Zebrafish-yeast approach for studying copper deficiency, complex multifactorial diseases

Parkinson’s disease linked to genetic alteration of immune system: Study

Merlin protein controls adult cell activity to cause liver cancer

Dr. Hastings receives grant for Spinal Muscular Atrophy research

Spinal muscular atrophy may lead to cardiac dysfunction: Study

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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