Therapeutics rare intestinal diseases
8 important questions on Therapeutics rare intestinal diseases
Which three chronic intestinal problems we see in children? What are the causes?
- (50-80%) Short bowel syndrome. Cause: surgeries, or preterm babies with underdeveloped microbiome
- Pediatric intestinal pseudo-obstruction. Cause: motility problem, obstructions.
- Congenital enteropathies like Microvillus inclusion disease with microvillous atrophy. Cause: genetic MYO5B gene mutation.
What is the pathophysiology of microvillus inclusion disease?
Atypical apical brush border membrane of enterocytes.
- Tufting enteropathy
- Congenital diarrhea
What are symptoms of MVID (microvillus inclusion disease)?
- Intestinal failure
- Electrolyte disbalance
- Dehydration
- Diarrhea
- Malabsorption
- Failure to thrive
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What is the goal of the research plan for the MYO5B mutation?
- Disease modeling
- Drug screening
- Cell therapy
What is the research plan? Why did they set it up?
=> give more insight in this.
What technique was used to identify gen expressie of MYO5B? And what was the conclusion?
Cloud -> each dot is one cell -> color where it is located.
Conclusion:
- Expression in the enterocytes
- Not in every type of cell
What is an example of an approach of disease modeling?
Instead of taking cells form the patients and make organoids with this MYO5B mutation, you can also take cells from healthy childeren and make the mutation with CRISPR. What is an advantage and what is the problem?
Problem: is it personalized enough; a mutation can be on different places of the gene and can be of various types (delection/silencing) =>does this influence the effect?
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