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New technology helps to find gene responsible for Kufs disease

Scientists from the Walter and Eliza Hall Institute and the University of Melbourne have used innovative new technologies to identify the gene responsible for a rare but fatal hereditary brain...

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New guidelines for cardiovascular genetic testing

An international panel of experts from The Heart Rhythm Society and the European Heart Rhythm Association issued new guideline recommendations for all health care professionals about cardiovascular...

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New Mayo Clinic test targets Lynch syndrome, a risk factor for colon cancer

Mayo Clinic has developed a screening procedure that could dramatically increase testing for Lynch syndrome, a hereditary genetic disorder that raises cancer risk, particularly for colorectal cancer....

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First controlled clinical trial for Juvenile Batten disease to start

After years of building hope for a treatment, Rochester researchers and clinicians will begin the first controlled clinical trial for Juvenile Batten disease this summer, thanks to $1 million in grants...

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Mismatch between cancer genetics counseling and testing guidelines and...

A new analysis has found that many doctors report that they do not appropriately offer breast and ovarian cancer counseling and testing services to their female patients. Published early online in...

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BUSM professor authors book on how knowledge about genes and family history...

World-renowned genetics expert Aubrey Milunsky, MD, DSc, has penned a new book focused on new DNA tests that have dramatically expanded our ability to avoid, prevent, diagnose, predict and treat many...

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UT Southwestern program identifies families at high risk for colorectal cancer

UT Southwestern Medical Center has developed a new lifesaving genetic screening program for families at high risk of contracting colorectal cancer, a deadly yet highly preventable form of cancer.

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Gene responsible for three forms of childhood neurodegenerative diseases found

A Montreal-led international team has identified the mutated gene responsible for three forms of leukodystrophies, a group of childhood-onset neurodegenerative disorders. Mutations in this gene were...

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Gene mutations predict early, severe form of kidney disease

The most common kidney disease passed down through families, autosomal dominant polycystic kidney disease (ADPKD) affects one in 400 to 1,000 individuals and is characterized by cysts on the kidneys....

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Study participants at risk for Alzheimer's talk about their genetic test results

If you had a family history of developing Alzheimer's disease, would you take a genetic test that would give you more information about your chances?

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Cleft lip/palate cause much more than cosmetic problems

Children born with cleft lip, cleft palate and other craniofacial disorders face numerous medical challenges beyond appearance.

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Pre-test genetic counseling increases cancer knowledge for BRCA patients

(Medical Xpress) -- Researchers at Moffitt Cancer Center have found that when breast cancer patients are offered pre-test genetic counseling before definitive breast cancer surgery, patients exhibited...

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Genetic counseling doesn't affect pre-diabetes behavior

(HealthDay)—Receiving genetic risk counseling does not significantly alter self-reported motivation or prevention program adherence for overweight individuals at risk for type 2 diabetes, according to...

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Parents of babies with sickle cell trait are less likely to receive genetic...

Parents of newborns with the sickle cell anemia trait were less likely to receive genetic counseling than parents whose babies are cystic fibrosis carriers, a new study from the University of Michigan...

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Whole genome sequencing of de novo balanced rearrangements in prenatal diagnosis

Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported today at the American...

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Two new genetic mutations associated with Cowden syndrome

Cleveland Clinic researchers from the Lerner Research Institute have uncovered two new genes associated with Cowden syndrome (CS) according to a new study, published today in the online version of the...

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An embryo that is neither male nor female

So, is it a girl or a boy? This is the first question parents ask at the birth of an infant. Though the answer is obvious, the mechanism of sex determination is much less so. Researchers at the...

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U-M to develop guide for parents of children with disorders of sex development

When a child is born with a disorder of sex development, decisions regarding gender assignment and genital surgery are often made quickly and under pressure.

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Genetic risk strategies needed for young, black, female breast cancer...

Researchers at Moffitt Cancer Center and colleagues in Canada have published study results focused on black women younger than 50, a population disproportionately afflicted with and dying from...

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USPSTF: BRCA testing for women with family history

(HealthDay)—The U.S. Preventive Services Task Force (USPSTF) recommends that BRCA1 and BRCA2 genetic testing be limited to women whose family histories are associated with an increased likelihood of...

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