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+## Genes and their evolutionary background that are involved in diseases
+
+#### Common diseases caused by point mutations
+- Cystic Fibrosis  
+- Familial hypercholesterolemia 
+- Hemophilia B
+- Phenylketonuria 
+- Autosomal dominant polycystic kidney disease (ADPKD) 
+- Sickle cell disease
+- Tay–Sachs disease 
+
+#### Mutations and phenotypes that provide evolutionary advantages/differations
+- Thalassemia
+- P450 genes
+---
+
+#### Cystic Fibrosis
+- CFTR gene: deletion of a single amino-acid
+- CFTR wild type sequence: [download dataset](https://www.ncbi.nlm.nih.gov/gene/1080)
+- CFTR mutation:
+  - most famous mutation[^2]: c.1521_1523delCTT, p.Phe508del
+
+#### Familial hypercholesterolemia
+- APOB gene: Apolipoprotein B
+- APOB wild type sequence: [download dataset](https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=DetailsSearch&Term=338)
+- APOB mutation: 
+  - most famous mutation[^1]: APOB: p. R3527Q
+
+#### Hemophilia B
+- F9 gene: Factor IX
+- F9 wild type sequence: [download dataset](https://www.ncbi.nlm.nih.gov/gene/2158)
+- F9 mutations[^3]: [view missense mutations](https://view.officeapps.live.com/op/view.aspx?src=https%3A%2F%2Fwww.cdc.gov%2Fncbddd%2Fhemophilia%2Fdocuments%2Ff9-chbmp-v5-5-5-15.xlsx&wdOrigin=BROWSELINK)
+
+
+
+[^1]: https://academic.oup.com/hmg/article/23/7/1817/653825
+[^2]: https://www.cff.org/research-clinical-trials/types-cftr-mutations
+[^3]: https://www.cdc.gov/ncbddd/hemophilia/champs.html