Clinical and genetic characterization of RDH12-retinal dystrophy

2023, Sep 12    

Exploration of new problems

1. Problem 1

Lock key mechanism of a sugar in the outer layer of cells in human. This particular sugar is evolved to be present in humans only (not any other animals or primates) and so is protecting us from certain diseases (found out in his lab). But now the viruses/ bacterias are also evolving to lock the active site of this sugar in humans. There are numerous ways this happens at different sites due to mutations, which is still unknown how. The earlier thought was there was a single lock and all these bacterias/viruses evolved to fit in the key. But it seems most of them have evolved in different ways to lock the key (active site in sugar). It would be an efficient work to predict the changes that are happening (say we know the bacteria mutated upto 80\% to fit in) so that they can be detected before the lock gets into the key. Before the infection/disease spreads out. For this they have all the data required: the structure of bacteria and mutations (around 77 of them) affecting all the genes. It would be interesting to take a single gene and find the mutation structures and predict when will the lock mutate to fit in the key. It seems knowledge on topography will be required to work on the protein structures ( the images of the marked active sites of the sugar in the centre and the mutated virus structures/keys surrounding it).

1. Problem 2

Blindness is caused by mutation in certain genes. The disease progresses slowly and then the patient becomes blind completely. They have the data of the patients from the start of detection to the time when they are blind completely. A village Jalna in Aurangabad where this disease is prevalent. Currently, an injection at every 6 months is provided to affected patients so that it slows down disease progression. It costs around 300k$ per injection not affordable to many. Possibility of eyedrops that would stop the progression of this disease. The model can be tested by taking blood sample from the patient and form retina cells and validate whether the modification is working or not. He is capable of validating the model experimentally. Using ML, correlations between genes and mutations can be determined.

Paper: Clinical and genetic characterization of RDH12-retinal dystrophy