Marcus Pembrey

reassuringly

Great Ormond Street Hospital for Children

chromosome abnormalities

Angelman syndrome

1’22’’左右處diseases之前有一破折號(hào)( -- )

In classic genetics, your parents and grandparents simply pass on their genes. The experiences they accumulate in a lifetime are never inherited, lost forever as the genes pass untouched through generation after generation.
The biology of inheritance was a reassuringly pure process, or so it seemed. In the early 80s, Marcus Pembrey headed the clinical genetics department at Great Ormond Street Hospital for Children. He was frequently treating families with unusual genetic conditions.
We were constantly coming across families which didn't fit the rules, didn't fit any of the patterns that genetics were supposed to fit. So you think of chromosome abnormalities and you check the chromosomes and they are normal, so you then have to start imagining, as it were, you know, what might be underlying this and you were really driven to try and work it out because the families needed some help.
The more families he saw, the more the rules of inheritance appeared to break down -- diseases and conditions that simply didn't fit with the textbook conventions. One condition in particular caught his eye, Angelman syndrome.

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