TPI Research Project History at Kings College Hospital, London

Professor Bellingham - Kings and TPI Research

Professor Bellingham first came into contact with TPI Deficiency in the 70's, since then he has researched into further understanding TPI periodically over the last 20 years. In 1985 his team were responsible for the first Pre-Natal Diagnosis of TPI at 20 - 24 weeks gestation, this technique was successfully used in the United Kingdom and Australia. Professor Bellingham was determined to improve the time at which Pre-Natal Diagnosis could be achieved, his aim was to test at 11 weeks gestation by analysis of chorionic villous DNA.. To do this, Dr Roopen Arya was employed on a 2 year MRC grant. This was achieved in late 1994 when Rachel Stokes was successfully tested, the test indicated the foetus was a TPI carrier, which means the baby would be fine. This was confirmed by the old style test at 22 weeks and further confirmed at birth.

In March 1996, Yvonne Stewardson (James's Mum) was also tested at 11 weeks gestation, the test proved that Yvonne was carrying a normal healthy baby girl, not even a carrier!! The baby was born very healthy on October 12th 1996!

Since then Roopen and the Kings TPI research team, Roopen was joined by Dr. Art Ationu and Dr. Anne Humphries in December 1995, have been concentrating on further understanding the genetic make-up of the TPI gene, to do this they have managed to obtain blood samples of all the Australian and UK families. This has proved very beneficial, Roopen has discovered further mutations within the TPI gene, previousely codon 104 was thought to be the only mutation present for the UK families.

Papers regarding Roopen's and the Kings College Hospital teams recent TPI research started to be published during the first half of 1996. These included, the paper regarding the First-trimester Prenatal diagnosis work was published in "Blood, Vol 87, No 11 (June 1st), 1996; pp 4507-4509." titled "Prenatal diagnosis of triosephosphate isomerase deficiency."

Then in January 1997 Roopen Arya's article "Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency" was published.

Latest TPI articles information can be found within the Research Progress page.

For further information regarding Dr Roopen Arya's and the Kings College Hospital teams TPI research, you can E-Mail Roopen at:

Send E-Mail to Dr Roopen Arya at Kings College Hospital, London