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.

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

Three different leukemias are all caused by mutations that alter a specific enzyme controlling blood cell proliferation

Identifying the genetic malfunction that causes these disorders raises the hope that researchers may be able to devise a targeted therapy, just as they have done for chronic myelogenous leukemia (CML), which is presently treated with Gleevec. The three leukemias that share a common genetic cause are polycythemia vera (PV), essential thrombocythemia (ET) and myeloid metaplasia with myelofibrosis (MMM).

28 Mar 2005

Dental researchers map the gene that causes dentinogenesis imperfecta

Dental researchers at The University of Texas Health Science Center are the first in the world to successfully map the gene that causes dentinogenesis imperfecta (DGI) Type III, a disease that affects tooth density and color and over time can cause teeth to wear to the gum line.

16 Mar 2005

Researchers investigate the interaction of proteins responsible for Saethre-Chotzen Syndrome

A study in the April issue of Nature Genetics establishes a model that may take scientists closer to understanding how cells in the human body determine their own fate.

15 Mar 2005

Most infertile women want to choose the sex of their child

Many women being treated for infertility would choose the sex of their next child if given the option and those who were childless would choose baby girls and boys in approximately equal numbers.

14 Mar 2005

British restrictions on genetic testing and insurance extended

Britain's Health Secretary John Reid today announced that genetic test results used to predict possible future illness will not be used to deny people insurance.

14 Mar 2005

Significant number of women being treated for infertility would choose the sex of their next child

A new survey says a significant number of women being treated for infertility would choose the sex of their next child if given the option -- and those as yet childless would choose baby girls and boys in approximately equal numbers.

14 Mar 2005

Mutations in newly discovered gene, NPHP5 cause Senior-Loken syndrome

Scientists at the University of Michigan Medical School have discovered a gene called NPHP5 and found mutations in this gene that cause a rare genetic disease called Senior-Loken syndrome. Children with this syndrome develop a type of cystic kidney disease called nephronophthisis, as well as a form of blindness called retinitis pigmentosa.

3 Mar 2005

Abnormal brain structure tied to spatial, numerical thinking problems when children lack part of chromosome

Certain genetic diseases affect children's educational abilities in a distinctive pattern: impairing their numerical abilities more than their verbal skills. New research sheds light on this split in abilities by investigating how differences in brain structures may influence how the mind works.

3 Mar 2005

Americans support appropriate use of reproductive genetic testing

A majority of Americans believes it is appropriate to use reproductive genetic testing to avoid having a child with a life-threatening disease, or to test embryos to see if they will be a good match to provide cells to help a sick sibling, a new report of the Genetics and Public Policy Center reveals.

20 Feb 2005

Separating chromosomes improves genetic test results

A new process that helps unmask genetic mutations by separating chromosomes so they can be studied individually may improve the diagnostic yield of some genetic tests, according to findings of a Colon Cancer Family Registry study published today in the Journal of the American Medical Association.

16 Feb 2005

New simple and cost-effective method of diagnosing hereditary genetic disorders

A technique called size-fractionation performed on a sample of the mother's blood allows researchers to identify fetal DNA molecules separate from maternal DNA as a way to determine which pregnancies may be at risk for genetic disorders, according to a preliminary communication in the February 16 issue of JAMA, a theme issue on medical applications of biotechnology.

15 Feb 2005

Two-step approach to transform HIV into a cancer-seeking machine

Camouflaging an impotent AIDS virus in new clothes enables it to hunt down metastasized melanoma cells in living mice, reports a UCLA AIDS Institute study in the Feb. 13 online edition of Nature Medicine.

13 Feb 2005

Genetic Disorder News and Research

Further Reading

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

Three different leukemias are all caused by mutations that alter a specific enzyme controlling blood cell proliferation

Dental researchers map the gene that causes dentinogenesis imperfecta

Researchers investigate the interaction of proteins responsible for Saethre-Chotzen Syndrome

Most infertile women want to choose the sex of their child

British restrictions on genetic testing and insurance extended

Significant number of women being treated for infertility would choose the sex of their next child

Mutations in newly discovered gene, NPHP5 cause Senior-Loken syndrome

Abnormal brain structure tied to spatial, numerical thinking problems when children lack part of chromosome

Americans support appropriate use of reproductive genetic testing

Separating chromosomes improves genetic test results

New simple and cost-effective method of diagnosing hereditary genetic disorders

Two-step approach to transform HIV into a cancer-seeking machine

Genetics & Genomics - Second Edition eBook

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Arxspan BioDrive: A Versatile Solution for Molecular Biology

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