How 6 Rare Diseases Are Changing Everyday Medicine

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Sometimes, studying uncommon maladies can reveal larger insights into how our bodies work!

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Sources:
https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
https://irp.nih.gov/blog/post/2015/06/top-5-reasons-to-study-rare-and-undiagnosed-diseases

Osteo
https://www.thebonejournal.com/article/S8756-3282(11)00969-0/fulltext
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5069370/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC292015/pdf/jcinvest00194-0009.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726215/

Gaucher
https://www.sciencedirect.com/science/article/pii/S0896627317300429
https://rarediseases.org/rare-diseases/gaucher-disease/

Niemann-Pick
https://rarediseases.org/rare-diseases/niemann-pick-disease-type-c/
https://www.nature.com/articles/nature10348
http://www.pbs.org/wgbh/nova/next/body/the-rare-disease-thats-helping-researchers-cure-ebola/
https://www.nature.com/articles/nature10380

Leptin
https://www.nature.com/articles/43185
https://www.nejm.org/doi/full/10.1056/nejmoa1406653
http://www.laskerfoundation.org/media/filer_public/82/b6/82b68546-b467-4410-a08c-a91458740306/2010_b_coleman.pdf
https://www.jax.org/strain/000632
https://ghr.nlm.nih.gov/condition/congenital-leptin-deficiency

Laron
http://discovermagazine.com/2013/april/19-double-edged-genes
https://www.nbcnews.com/health/aging/little-people-ecuador-laron-syndrome-may-unlock-cancer-diabetes-cure-n511266
https://rarediseases.info.nih.gov/diseases/6859/laron-syndrome
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531065/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943600/

plasminogen
http://www.sciencemag.org/news/2017/11/mutation-blood-clotting-gene-may-extend-human-life-span
http://advances.sciencemag.org/content/3/11/eaao1617
https://rarediseases.info.nih.gov/diseases/4381/plasminogen-activator-inhibitor-type-1-deficiency

Images:
https://commons.wikimedia.org/wiki/File:XrayRicketsLegssmall.jpg
https://commons.wikimedia.org/wiki/File:1ALK.png
https://commons.wikimedia.org/wiki/File:Pyrophosphate-3D-balls.png
https://commons.wikimedia.org/wiki/File:Osteoporosis_Locations.png
https://commons.wikimedia.org/wiki/File:Bisphosphonate_structure.jpg
https://commons.wikimedia.org/wiki/File:Osteoclast.jpg
https://commons.wikimedia.org/wiki/File:Animal_Cell.svg
https://commons.wikimedia.org/wiki/File:Structure_of_human_beta-glucocerebrosidase_@.png
https://commons.wikimedia.org/wiki/File:Protein_NPC1_PDB_3GKH.png
https://commons.wikimedia.org/wiki/File:Ebola_virus_virion.jpg
https://commons.wikimedia.org/wiki/File:Niemann_pick_cell_in_spleen.jpg
https://commons.wikimedia.org/wiki/File:Fatmouse.jpg
https://commons.wikimedia.org/wiki/File:Somatotropine.GIF
https://commons.wikimedia.org/wiki/File:Endocrine_growth_regulation.svg
https://commons.wikimedia.org/wiki/File:1OC0.png
https://commons.wikimedia.org/wiki/File:Amish_School_near_Rebersburg_PA.jpg

Видео How 6 Rare Diseases Are Changing Everyday Medicine канала SciShow