Editing Joubert syndrome (section)

== Research ==
Research has revealed that a number of [[genetic disorder]]s, not previously thought to be related, may indeed be related as to their root cause. Joubert syndrome is one such disease. It is a member of an emerging class of diseases called [[ciliopathy|ciliopathies]].<ref>{{cite journal | vauthors = Sattar S, Gleeson JG | title = The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders | journal = Developmental Medicine and Child Neurology | volume = 53 | issue = 9 | pages = 793–798 | date = September 2011 | pmid = 21679365 | pmc = 3984879 | doi = 10.1111/j.1469-8749.2011.04021.x }}</ref>

The underlying cause of the ciliopathies may be a dysfunctional molecular mechanism in the primary [[cilia]] structures of the [[Cell (biology)|cell]], [[organelle]]s which are present in many cellular types throughout the [[human]] body. The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often [[pleiotropic|multi-symptom]] nature of a large set of syndromes and diseases.{{citation needed|date=November 2020}}

Currently recognized ciliopathies include Joubert syndrome, [[primary ciliary dyskinesia]] (also known as Kartagener Syndrome), [[Bardet–Biedl syndrome]], [[polycystic kidney disease]] and [[polycystic liver disease]], [[nephronophthisis]], [[Alström syndrome]], [[Meckel–Gruber syndrome]] and some forms of [[retinopathy|retinal degeneration]].<ref>{{cite journal | vauthors = Badano JL, Mitsuma N, Beales PL, Katsanis N | title = The ciliopathies: an emerging class of human genetic disorders | journal = Annual Review of Genomics and Human Genetics | volume = 7 | pages = 125–48 | date = September 2006 | pmid = 16722803 | doi = 10.1146/annurev.genom.7.080505.115610 }}</ref>

Joubert syndrome type 2 is disproportionately [[Medical genetics of Jews|frequent among people of Jewish descent]].<ref>{{cite book| vauthors = Gutkind L, Kennedy P |title=An Immense New Power to Heal: The Promise of Personalized Medicine|url=https://books.google.com/books?id=MOs7LjBQW40C&pg=PT36|date=10 October 2013|publisher=Underland Press|isbn=978-1-937163-07-5|pages=36}}</ref>