News tagged with genetic diagnosis


An epigenetic difference in twins explains different risk of breast cancer

Monozygotic twins have the same genome, that is, the same DNA molecule in both siblings. Despite being genetically identical, both twins may have different diseases at different times. This phenomenon is ...

Cancer created Oct 17, 2012 | popularity not rated yet | comments 0

Two-day test can spot gene diseases in newborns (Update)

Too often, newborns die of genetic diseases before doctors even know what is to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical ...

Genetics created Oct 03, 2012 | popularity 5 / 5 (1) | comments 1

Advances in the development of an early detection kit for bowel cancer

Rubén Armañanzas and Pedro Larrañaga, researchers of the Computational Intelligence Group at the Universidad Politécnica de Madrid's Facultad de Informática have used advanced statistical and data ...

Cancer created Sep 25, 2012 | popularity 5 / 5 (1) | comments 0

Genetic testing and the new population of the 'worried well'

Genetic testing and screening is increasingly becoming a presence in our lives. Daily news reports discuss new associations between genes and common conditions. And these associations are used to calculate ...

Health created Sep 17, 2012 | popularity not rated yet | comments 0

Scientists discover mevalonate kinase gene mutations associated with disseminated superficial actinic porokeratosis

A Chinese research team, led by Anhui Medical University and BGI, has found the strong genetic evidences of mevalonate kinase gene (MVK) mutations link to disseminated superficial actinic porokeratosis (DSAP). It is a major ...

Genetics created Sep 16, 2012 | popularity 1 / 5 (1) | comments 0 | with audio podcast

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 decreases in distress. ...

Cancer created Aug 15, 2012 | popularity not rated yet | comments 0 | with audio podcast

The prevention of hereditary breast and ovarian cancer by PGD is 'feasible'

Preimplantation genetic diagnosis (PGD) for the breast cancer genes BRCA1/2 is now feasible and established, with good success rates for those treated, according to investigators from the reproduction, oncology and genetics ...

Cancer created Jul 02, 2012 | popularity not rated yet | comments 0

Exome sequencing gives cheaper, faster diagnosis in heterogeneous disease

Nuremberg, Germany: The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands ...

Genetics created Jun 25, 2012 | popularity 5 / 5 (1) | comments 0

Prenatal genetic test offers more information, raises questions

The latest advance in prenatal genetic testing purports to offer parents more detailed information than ever about the child they are expecting. But for some, the new answers could lead to another round of questions.

Genetics created Jun 20, 2012 | popularity not rated yet | comments 0

BGI, Children's Hospital of Philadelphia launch the 1,000 Rare Diseases Project

BGI, the world's largest genomics organization, and The Children's Hospital of Philadelphia (CHOP) today announced that they have jointly initiated the 1,000 Rare Diseases Project with the aim of accelerating the discovery ...

Genetics created Jun 18, 2012 | popularity not rated yet | comments 0

AAN issues new guideline for treating rare seizure disorder in babies, young children

The American Academy of Neurology has issued an updated guideline outlining the best treatments for infantile spasms, a rare type of seizure that can occur in infants and young children. The guideline, which was co-developed ...

Neuroscience created Jun 11, 2012 | popularity not rated yet | comments 0

Distinct molecular subtype of prostate cancer identified

A collaborative expedition into the deep genetics of prostate cancer has uncovered a distinct subtype of the disease, one that appears to account for up to 15 percent of all cases, say researchers at Weill Cornell Medical ...

Genetics created May 20, 2012 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Sequencing works in clinical setting to help -- finally -- get a diagnosis

Advanced high-speed gene-sequencing has been used in the clinical setting to find diagnoses for seven children out of a dozen who were experiencing developmental delays and congenital abnormalities for mysterious reasons.

Pediatrics created May 08, 2012 | popularity not rated yet | comments 0 | with audio podcast

Genetic abnormalities in benign or malignant tissues predict relapse of prostate cancer

While active monitoring of serum prostate specific antigen (PSA) levels in men over 50 has greatly improved early detection of prostate cancer, prediction of clinical outcomes after diagnosis remains a major challenge. Researchers ...

Cancer created May 07, 2012 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Study shows how mitochondrial genes are passed from mother to child

Research conducted at the Oregon National Primate Research Center at Oregon Health & Science University helps answer some long-standing questions about how certain disease-causing gene mutations are inherited.

Genetics created May 03, 2012 | popularity 4 / 5 (1) | comments 0 | with audio podcast