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March20 podcast Dr Hazen
anti-TMA pill in a year or 2 ? (scroll 12 mins)

Additional info:
MEBO Karen
at UK Findacure conf 2020

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MEBO Map Testing & Meetups

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MEBO - UBIOME study 2018



MEBO Gut Microbiome Study
"Microbial Basis of Systemic Malodor and PATM Conditions (PATM)"
Funded by uBiome Research Grant

"Microbial Basis of Systemic Malodor and PATM Conditions (PATM)"

Dynamics of the Gut Microbiota in
Idiopathic Malodor Production

Started May 2018 - Ongoing

Current people sent kits : 100/100
3 kits per person


Participation info : LINK English

MEBO Private Facebook Group
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BO Sufferers Podcasts



TMAU Petition world
TMAU UK end total:262
TMAU UK ends 23/01/20
TMAU Petition USA end total 204
USA : Moveon open
TMAU (Dominican)
Metabolomic Profiling Study

Start : Aug 2016
Stage 1 : 27 Canadian volunteers to test
Latest click here (26 oct) :
17 samples returned

Note : Stage 1 is Canada only.
Return cut-off date : passed
Analysis can take 6/8 weeks
Analysis start in/before Nov
MEBO Research is a
NORD Member Organization
See RareConnect TMAU

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Denver TMAU Test Lab survey click here
click to Read more/less

USA survey for anyone who wants to improve Denver TMAU test

begun : Dec22
end : no ending for now

A trainee genetic counselor is working at the Denver TMAU test lab. Probably as part of her training. As a project she wishes feedback on any aspect of the Denver TMAU test and process. You can fill in the survey and/or email her (email address is in survey). It's meant for USA people, but perhaps others can give their view too (as we have so few opportunities).

quote from her rareconnect post

"Hello all! I wanted to make you aware of a research study being conducted to better understand the experience and needs of individuals with trimethylaminuria with a goal of being able to create improved patient and healthcare provider education materials. Any participation is completely voluntary and all responses remain confidential. Feel free to use the contact information within the link with any questions or share the survey with others with TMAU."

see this post for more details

Friday, December 7, 2012

Ataluren receives validation of marketing approval by EMA

Ataluren, a new drug made by PTC Therapeutics, yesterday announced that it had received validation of a marketing authorization application for Ataluren by the European Medicines Agency (EMA) for the treatment of Duchenne Muscular Dystrophy  (DMD).

This seems to mean that it is at least being considered for approval which will ultimately lead to it's approval for sale by the EMA. Although in this case it is being marketed for nonsense mutations in DMD, it should in theory be of some help to people who have a nonsense mutation of any genetic disorder. Typically, nonsense mutations make up about 5-10% of cases of a genetic disorder, and with FMO3 mutations it is likely to be around this amount.

missense and nonsense mutation analogy
Nonsense mutations are a 'severe' type of mutation. In the case of FMO3, which is a 532 amino acid sequence, it means that a false stop is inserted into the 532 sequence somewhere in the sequence (rather than at the end where a stop codon should be), and the FMO3 protein does not then get properly formed.

So this is an exciting milestone announcement by PTC Therapeutics, but presumably it still has a way to go before being a drug available in Europe.  

Official press release for the Ataluren announcement  
PTC page on Ataluren
Wikepedia entry for nonsense mutation


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