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TOFS Awareness Week 2024

Get involved with the “lost twin” genetic study at the TOFS seminar

We are delighted to have Dr Charles Shaw-Smith and Dr Bryn Webb presenting their “OA/TOF and the lost twin” hypothesis at our “Improving Care in OA/TOF” seminar on Saturday.

Attendees will also have the opportunity to take part in the study investigating a possible link between a ‘lost twin’ and OA/TOF.

The study will look for specific tags or modifications seen on DNA in persons with OA/TOF, and, in particular, whether the presence of a DNA modification signature in affected individuals could support the idea that a ‘lost twin’ might be a factor in OA/TOF. 

Dr Shaw-Smith has spoken about this hypothesis at TOFS meetings in the past (see video below).

Dr Shaw Smith explains, “Briefly, it has been known for some time that being an identical twin is a risk factor for development of OA/TOF.  Individuals with OA/TOF are more likely to be a twin, and furthermore, there is some circumstantial evidence to suggest that this risk factor applies even in cases where an identical twin was “lost” very early in pregnancy.

Until now, the means to investigate the possibility of a “lost twin” have not been readily available.  New research (to be explained in the seminar) now offers a possible way forward.

During the extended meeting lunch break at the seminar, individuals and families* who are in a position to participate, will be able to provide a saliva sample, or mouth swab** (further clinical information will be requested after the event).

For parents who are not bringing their child with them to the seminar, information will be provided about how you can participate in the study from home. “

Dr Shaw-Smith and Dr Webb will be on hand during the day but please feel free to reach out to them ( / if you have any questions, either before or after the seminar. 

To see the full schedule of speakers at the seminar, please click here.

*Please note that they would, ideally, like to collect samples from the child born with OA/TOF and from both parents, although understand that this may not be possible in all cases.

**Please be aware that the usual recommendation in collecting samples of this type is that the subject should have had nothing to eat or drink for a minimum of half an hour before the sample is collected.

Dr Charles Shaw-Smith, Consultant Clinical Geneticist, Royal Devon and Exeter NHS Trust speaking at the TOFS Conference 2019 on the subject of “Causes of OA/TOF – including the role of twins”.

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