raregenomics.org following our twitter account

raregenomics.org following our twitter

We were happy to notice a new follower to our twitter account recently : raregenomics.org. Obviously genetics is of great interest to the systemic body odor and halitosis community, since a genetic weakness seems to be a likely factor in many cases.

Taking a look at the raregenomics.org website, the Rare Genomics Institute 'team' seem to be a highly qualified group of younger individuals who are breaking out of the old slow form of financing and instigating clinical research, and instead using the internet and advances in genetic testing to 'crowdfund' genomic testing into 'rare disorder' cases so that understanding of the genetics of the disorders can take place in a quicker fashion, with the data available to the research community. If you like, a small 'quick response' team (like SWAT) using the internet and genomics testing to have an impact that may have huge ramifications for those disorders.

The 'team' seem to be highly qualified younger people with expertise in genomics, based in top health research centers across the USA such as Yale University and Harvard, with the advisory board looking older and even more qualified (all Professors).

The basic aim seems to be to find children with 'rare disorders' and fundraise their genomic testing costs on the raregenomics website. The testing will be carried out by raregenomics.org and made use to understand the disorders better, in the hope of finding therapies or cures.

systemic body odor/halitosis and raregemoics.org

Rare Genomics Institute is a nonprofit organization that facilitates the funding, access, and translation of whole genome sequencing technologies for people with rare or orphan genetic diseases. We are using a crowd-funding approach to raise money for whole genome sequencing and analysis in rare disease patients.

There are 2 obvious ways in that 'systemic body odor/halitosis' may be of interest to The Rare Genomics Institute. Firstly, Trimethylaminuria (TMAU) is a known genetic disorder, currently regarded as 'rare' (but probably wrongly). Genetically there is probably still much more to learn about TMAU and the FMO3 enzyme. And recently a new research paper showed the TMAU-FMO3 connection may not be as clear-cut as thought, with another enzyme (PYROXD2) claimed to show mildly increased TMA levels in people with a certain variant.

Secondly, as most people suffer from systemic odors such as fecal smells, gas smells, burning rubber, rotten egg, sewage ... it seems highly likely that the most common complaint on the forums has not yet been properly classified, meaning there could be other enzymes at fault (or FMO3) for systemic body odors. Also, some systemic body odors which have a certain smell only, perhaps smaller number of cases in the community have certain enzyme weaknesses that make them prone to these smells, such as carriers of isovaleric acidemia perhaps prone to transient odor of sweaty feet.

So, both 'TMAU' and the unclassified 'systemic body odors' would be worthy of having the genomics better understood, (which incidentally, is one of MEBO Research's goals).

More about raregenmomics.org

Above all, it allows us to fill the rare-disease gap in today's centrally planned research funding.

So the way  The Rare Genomics Institute help is; by allowing individuals to fundraise on their site to have their genomics tested by them, in order to make the data available to the medical community, which may stimulate research. Individuals apply and raregenomics decide if it is appropriate for them to go ahead. There are 3 rare disorder cases already listed. It is also possible to donate to a fund for the organisation itself

One major problem for systemic odor conditions is that compared to other 'rare' metabolic disorders, we are perhaps perceived as the least worthy metabolic disorder deserving of rare disease funding, since other metabolic disorders are usually life-threatening or cause severe physical and mental conditions. Currently we do not know if anyone from the systemic odor community has applied to be on the program.

So, congratulations to the team at The Rare Genomics Institute for making full use of the internet to start an innovative way of potentially funding research into rare disorders that are neglected by the main medical research system.