Genetics

Unveiling disease-causing genetic changes in chromosome 17

Potocki-Lupski syndrome is a condition that results from having an extra copy of a small piece of chromosome 17 in each cell. A different condition, known as Smith-Magenis syndrome, results when a similar small piece of chromosome ...

Obstetrics & gynaecology

First semi-identical twins identified in pregnancy

Young Brisbane twins, a boy and a girl, have been identified as only the second set of semi-identical, or sesquizygotic, twins in the world—and the first to be identified by doctors during pregnancy.

Oncology & Cancer

Muscle gene mutations implicated in human nasal/sinus cancer

By sequencing the entire genomes of tumor cells from six people with a rare cancer of the nose and sinus cavity, Johns Hopkins researchers report they unexpectedly found the same genetic change¾one in a gene involved in ...

Obstetrics & gynaecology

Making better embryos

One out of every six Canadian couples experiences infertility. Some resort to in vitro fertilization. But the embryos obtained through this technique often have defects. In a study published today in the journal Current Biology, ...

Genetics

DNA puzzle uncovers rare chromosome defects

Using puzzle pieces from four different DNA analyses, researchers at Karolinska Institutet in Sweden have been able to map three extremely complex chromosome aberrations. This has given families answers about the cause of ...

Genetics

Male Y chromosomes not 'genetic wastelands'

When researchers say they have sequenced the human genome, there is a caveat to this statement: a lot of the human genome is sequenced and assembled, but there are regions that are full of repetitive elements, making them ...

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