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.

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

New advances in sickle cell disease

Excruciating pain episodes, recurrent pneumonias, strokes, severe infections, chronic hemolytic anemia, and secondary pulmonary hypertension are common complications of sickle cell disease, a life-threatening inherited defect in blood that causes normally disc-shaped red blood cells to take on a sickle shape.

6 Dec 2004

Human endogenous retroviruses (HERVs)

Human endogenous retroviruses (HERVs) have been the subject of a great deal of investigation in recent years. It has been established that HERVs cause some genetic diseases and there is strong circumstantial evidence for a link to some types of cancer and autoimmune diseases, but what else do we need to know about these unique organisms?

4 Dec 2004

Genetic Disorder News and Research

Further Reading

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

New advances in sickle cell disease

Human endogenous retroviruses (HERVs)

Brain inflammation is a sign of autism

Discovery of new compounds that may treat mucus build-up associated with cystic fibrosis

Search for genetic key to corneal disease

First home-testing device for phenylketonuria (PKU) patients

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