THE UNCOMBABLE HAIR SYNDROME

uncombablehairsyndromeThere is a human disease characterized by uncontrollably messy hair. It is called the “uncombable hair syndrome.”

Also known as Pili trianguli et canaliculi

Basically, a genetic syndrome affecting the structure of one of the proteins in the hair follicle. Results in literally uncombable hair (hence the name).

An abstract from Pediatr Dermatol. 2007 Jul-Aug;24(4):436-8.

A 4-year-old boy was noted to have unruly, spangled hair, which could not be combed flat. His mother reported that his hair had always had that texture and that it seemed to grow slowly. A hair pull test demonstrated that hairs could not be easily extracted, and light microscopic examination of the hair revealed pathognomonic characteristics of uncombable hair syndrome, including a triangular cross-sectional shape and canal-like longitudinal depressions.

Note that apart from the surreallness of such a disorder, I often use this talking point to bring up the following notions:

1. That there are a lot of crazy ass diseases out there (genetic or otherwise).

2. That from a therapeutic point of view, you need to look at the market value of finding a cure, before the whole finding a cure process to the start (i.e. do you think a lot of places are looking at treating uncombable hair syndrome?) Plus, if you take that question further, you can start getting into the arena of neglected diseases.

neglecteddiseasesHere’s a slide graphic that works well with that transition.

And here is the basic appeal behind the issue of neglected diseases (from researchappeal.org)

* Every day over 35,000 people die from infectious diseases such as AIDS, malaria, tuberculosis, and most neglected diseases such as leishmaniasis, Chagas disease and sleeping sickness.
* These diseases affect hundreds of millions, yet we lack safe, affordable, effective, field-adapted vaccines, diagnostics, and drugs to tackle them.

* Between 1986 and 2001, global funding for health research rose from $30 billion to US$106 billion, but progress towards new health tools for the poor remains insignificant.

* Of 1,393 new medicines approved between 1975 and 1999, only 1% was developed for tropical diseases and tuberculosis.

* Basic science about infectious diseases exists and biomedicine is developing extremely fast, but without political determination this progress cannot be used to develop essential products.

* The profit-driven model of drug development is not suited to developing essential health tools for neglected diseases.

* Current regulatory practices are poorly adapted to assessing the therapeutic advances of new drugs, vaccines and diagnostics for neglected diseases.

* Higher levels of intellectual property protection have not resulted in increased drug R&D for global health needs.

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