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.

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

Screening for toxoplasmosis for all pregnant women and newborns is necessary

Physicians found that signs, symptoms and identifiable risk factors are absent in more than half of the mothers of infants with congenital toxoplasmosis in a national study of children with this disease.

9 Feb 2005

Potential treatments for neurofibromatosis

Scientists at the Indiana University School of Medicine are closing in on potential treatments for neurofibromatosis, a genetic disease that afflicts 100,000 Americans with nerve tissue tumors, some of which become cancerous.

3 Feb 2005

Startling results from new biomedical research will smooth path to the market place

Researchers have discovered how to convert liver cells of mice into pancreatic cells using a single injection. This may eventually lead to a cure for diabetes. Dr. James Mittra, one of the organisers of an international conference in Edinburgh on the Evolution of the Life Science Industries asks, “How does the pharmaceutical industry respond to this kind of work? They are primarily interested in treatments, not cures. Do they see this kind of research as a threat?”

27 Jan 2005

Modern humans have sloppy gene control mechanisms which can make us susceptible to diseases

Our evolutionary ancestors’ lack of choice in the mating game has left modern humans exposed to disease, according to new research published in the journal PLOS Biology today.

25 Jan 2005

Corticosteroids can be beneficial in the treatment of Duchenne muscular dystrophy

Corticosteroids can be beneficial in the treatment of Duchenne muscular dystrophy and can be offered as a treatment option, according to the American Academy of Neurology and the Child Neurology Society in a new practice guideline published in the January 11 issue of Neurology, the scientific journal of the American Academy of Neurology.

10 Jan 2005

Researchers can now inexpensively program the chemical synthesis of entire genes on a single microchip

Devices the size of a pager now have greater capabilities than computers that once occupied an entire room. Similar advances are being made in the emerging field of synthetic biology at the University of Houston, now allowing researchers to inexpensively program the chemical synthesis of entire genes on a single microchip.

23 Dec 2004

Botox may be a possible treatment for sufferers of Tourette's syndrome

Researchers at Baylor College of Medicine in Houston are using botulinum toxin type A (Botox) to treat the neurological disorder, which can cause involuntary motor and vocal tics.

21 Dec 2004

Chronic stress may speed up the onset of skin cancer

Does stress speed up the onset of skin cancer? The answer, in mice anyway, appears to be "yes." Scientists at the Johns Hopkins Kimmel Cancer Center say that chronic stress may speed up the process in those at high-risk for the disease.

8 Dec 2004

Genetic Disorder News and Research

Further Reading

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

Screening for toxoplasmosis for all pregnant women and newborns is necessary

Potential treatments for neurofibromatosis

Startling results from new biomedical research will smooth path to the market place

Modern humans have sloppy gene control mechanisms which can make us susceptible to diseases

Corticosteroids can be beneficial in the treatment of Duchenne muscular dystrophy

Researchers can now inexpensively program the chemical synthesis of entire genes on a single microchip

Botox may be a possible treatment for sufferers of Tourette's syndrome

Chronic stress may speed up the onset of skin cancer

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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