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.

Adult, or post-natal, stem cells have the same ability as embryonic stem cells to multiply

In a ground-breaking study, scientists at Children's Hospital of Pittsburgh have discovered that adult, or post-natal, stem cells have the same ability as embryonic stem cells to multiply, a previously unknown characteristic indicating that post-natal stem cells may play an important therapeutic role.

27 Jun 2005

Adult, or post-natal, stem cells have the same ability as embryonic stem cells to multiply

27 Jun 2005

Most common form of lung cancer may begin in a group of newly isolated lung stem cells

Working in a mouse model, the researchers isolated a novel type of lung cell that can divide into fresh copies of itself and into the two more specialized kinds of cells deep in the lung.

16 Jun 2005

Scientists have tracked down the biological trigger that gives rise to Van Buchem disease

...a hereditary, disfiguring bone disorder that can cause blindness and deafness. The findings provide insight into long-range gene regulation and could lead to new treatments for osteoporosis and other crippling bone disorders.

16 Jun 2005

Intelligence and genetic disease link

A new study by the University of Utah on Ashkenazi Jews has suggested an unusual link between their genetic diseases and their higher intellectual ability.

6 Jun 2005

Research findings suggest new treatment strategies for patients with cystic fibrosis

Cells sent to fight infections in the lungs of cystic fibrosis patients actually enhance the development of permanent bacterial infections, according to researchers at National Jewish Medical and Research Center.

3 Jun 2005

Targeted Genetics issued patent related to adeno-associated virus (AAV) technology platform

Targeted Genetics Corporation has announced the issuance of another patent related to the Company's leading adeno-associated virus (AAV) technology platform. U.S. patent #6,897,045, titled "Adeno-Associated Virus Vectors," was issued to the University of Iowa Research Foundation and is exclusively licensed to Targeted Genetics.

30 May 2005

Researchers generate patient-specific stem cells

Researchers have isolated the first human embryonic stem cell lines specifically tailored to match the nuclear DNA of patients, both males and females of various ages, suffering from disease or spinal cord injury.

20 May 2005

Infants with Krabbe disease saved by cord blood stem cells

Children with a fatal genetic disorder called Krabbe Disease can be saved and their brain development preserved if they receive stem cells from umbilical cord blood before symptoms of the disease develop, according to a study published in the current issue of the New England Journal of Medicine.

20 May 2005

EraGen Biosciences and Bayer announce agreements for new cystic fibrosis (CF) assay

EraGen Biosciences, a rapidly growing molecular diagnostics company and Bayer HealthCare LLC, Diagnostics Division, announced today that EraGen has licensed its patented MultiCode-PLx® System to Bayer HealthCare in an exclusive worldwide agreement for Cystic Fibrosis.

18 May 2005

First DNA-based blood test to help detect cystic fibrosis

The Food and Drug Administration (FDA) has approved the first DNA-based blood test to help detect cystic fibrosis. The Tag-It Cystic Fibrosis Kit directly analyzes human DNA to find genetic variations indicative of the disease. The test will be used to help diagnose cystic fibrosis in children and to identify adults who are "carriers" of the gene variations.

10 May 2005

Nephrogenic Syndrome of Inappropriate Antidiuresis - a new genetic disease

Two infant boys whose bodies were overloaded with excess fluid have led UCSF pediatricians to the discovery of a new genetic disease. In the process, they have discovered a rare type of mutation where different substitutions in a single amino acid cause two different, opposite genetic disorders.

4 May 2005

Revised Bethesda guidelines effective at identifying patients at risk of colorectal cancer

The revised Bethesda guidelines, used for screening patients for a type of hereditary colorectal cancer, are effective for determining which patients should undergo further genetic testing, according to a study in the April 27 issue of JAMA.

26 Apr 2005

Fickle enzyme helps protect, but also can promote heart failure

Enzymes that make the gas nitric oxide (NO) not only protect the heart from damage due to high blood pressure or a heart attack, but also promote heart failure through overgrowth and enlargement of the muscle tissue, say animal researchers at Johns Hopkins.

26 Apr 2005

Baby gene tests safety should be checked

Experts are warning that the long-term safety of screening embryos for genetic diseases is going unchecked.

26 Apr 2005

Cardiac stem cells come closer to clinic

The laboratory of MDA grantee Kenneth Chien at the University of California-San Diego announced in a recent issue of Nature that its researchers have discovered in the hearts of mice, rats and humans a new type of stem cell that can become a mature cardiac cell.

12 Apr 2005

The liver may produce most of the body's good cholesterol

Research in mice suggests that the liver may produce most of the body's "good" cholesterol, an unexpected finding that might one day help scientists develop new treatments to raise levels of this heart-protecting molecule in humans.

10 Apr 2005

Yeast discovery provides new insights into familial dysautonomia

A discovery in yeast that has important implications for finding a cure for a devastating disease of nerve cell failures -- called familial dysautonomia (FD) -- has been made by Cornell University researchers.

6 Apr 2005

DNA repair kit announced by scientists

A study by scientists at Sangamo BioSciences, Inc. has demonstrated the use of the Company's zinc finger DNA-binding protein (ZFP) technology to achieve highly efficient, permanent correction of a disease-causing gene in primary human cells.

5 Apr 2005

Potential therapeutic role for the ataxin-3 protein for Machado-Joseph disease

The repetition of three little "letters" within the gene that codes for the ataxin-3 protein is both the cause of and perhaps a solution to Machado-Joseph disease and an entire family of similar genetic disorders, according to researchers at the University of Pennsylvania.

3 Apr 2005

Genetic Disorder News and Research

Further Reading

Adult, or post-natal, stem cells have the same ability as embryonic stem cells to multiply

Adult, or post-natal, stem cells have the same ability as embryonic stem cells to multiply

Most common form of lung cancer may begin in a group of newly isolated lung stem cells

Scientists have tracked down the biological trigger that gives rise to Van Buchem disease

Intelligence and genetic disease link

Research findings suggest new treatment strategies for patients with cystic fibrosis

Targeted Genetics issued patent related to adeno-associated virus (AAV) technology platform

Researchers generate patient-specific stem cells

Infants with Krabbe disease saved by cord blood stem cells

EraGen Biosciences and Bayer announce agreements for new cystic fibrosis (CF) assay

First DNA-based blood test to help detect cystic fibrosis

Nephrogenic Syndrome of Inappropriate Antidiuresis - a new genetic disease

Revised Bethesda guidelines effective at identifying patients at risk of colorectal cancer

Fickle enzyme helps protect, but also can promote heart failure

Baby gene tests safety should be checked

Cardiac stem cells come closer to clinic

The liver may produce most of the body's good cholesterol

Yeast discovery provides new insights into familial dysautonomia

DNA repair kit announced by scientists

Potential therapeutic role for the ataxin-3 protein for Machado-Joseph disease

Genetics & Genomics - Second Edition eBook

Achieving and maintaining ISO 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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