28 September 2015
ByAppeared in BioNews 821
BBC2, Monday 14 September 2015
Presented by Dr Michael Mosley
About forty years ago meetings of the London Dysmorphology Club were held at Great Ormond Street Hospital. This club set out to document the clinical features of childhood congenital disorders and to give as precise a label as possible to the underlying conditions, most of which were extremely rare.
The Dysmorphology Club had evolved from discussions within the Clinical Genetics Society, which had been formed in 1970. Participants were often established names in genetics, paediatrics or cytogenetics (e.g. Cedric Carter, Alan Emery, George Fraser, Paul Polani) but there were younger specialists (including Robin Winter, Michael Baraitser, Di
Michael Moseley's fascinating documentary series, the first of which is described here, is an excellent combination of developmental stages post-conception, enhanced by apt and most empathetic human examples. There is a lot of information covered, but always in the context of the impact of developmental anomalies on real people. From watching some of the trailers to this series I had worried that much was going to be made of the more sensational developmental disorders; those fears were groundless.
The first programme covered human development from conception to eight weeks of gestation and was interesting, educational, stimulating and accurate. After an exciting start watching Bruno walk a tightrope over a vast gorge near Rio de Janeiro (emphasising the interrelatedness of all our senses and organs) we met four identical quadruplets. These girls, Polly, Jessica, Ellie and Georgie, stole the show but demonstrated that at about day five after conception, there can be variations in growth and cell division which have major effects. Then we were off to Gambia to meet a 90-year-old man and a
Moving on to around 15 days post-conception, we then meet Melanie Gaydos, an internationally renowned model. Melanie suffers from a type of ectodermal dysplasia which has caused some disfiguring features which have led many to facial, hair and skin abnormalities. Notwithstanding these difficulties, Melanie has forged a highly successful career which must surely give encouragement to others who have overt disabilities and who wish to plough their own furrow. The mutation which has been found in Melanie's TP63 gene explains the genetic cause of her condition which begins to alter otherwise normal development at the
Moseley often betrays his own emotions in this series and we see this as, with the happy parents, he wonders at, and celebrates, the early heartbeat of an embryo at around five weeks gestation. Then he shows us a little girl found to have aortic stenosis, an abnormality which is fatal if untreated and which has its origin around the sixth developmental week. Because such abnormalities can be detected during mid-pregnancy, curative surgical treatment can be planned; the
Apart from the understanding of human development implicit in this documentary, I was left with a strong belief that even the most striking abnormalities can be accepted and the consequent difficulties overcome. Even more, I saluted the early members of the Dysmorphology Club and all the clinicians worldwide, who had so carefully documented human congenital malformations that the myriad of molecular findings of recent years could be speedily matched with accurate diagnoses and incredibly detailed catalogues of clinical findings.