Our approach suggests a link between the so called “personal genetics” and “personal medicine”. There is a gap between these fields. For instance, in the example above, with the BRCA1 test you and your physician can only obtain information whether you are under risk of getting cancer, but this is insufficient to definitively determine what kind of treatment would be the best in your particular case. For the latter you need much more specific knowledge about how exactly your mutation disrupts the corresponding protein/s and protein-protein interactions and pathways, and, more importantly, whether there is a drug which might actually help you. Our novel approach is focused, on many levels, on giving you this decisive information. To put it in simple words, most genetics tests can help detect a health problem, but DO NOT provide information how the patient can manage it! Our service will let you have at least a vision about this.
An example is the BRCA1 pathway targeting the drug BMN673, which is under clinical trial. It has been shown recently that tumor shrinkage by at least 30% was seen in 11 out of 25 patients with ovarian cancer. However, other pathways must obviously be targeted for the remaining patients, due to the differences in the mutations in the patients under study. Moreover, it is not possible for any effective drugs to be developed without such crucial information, i.e. what is the exact process that should be stopped.
Without going into too much detail, I would just mention that there has been significant progress regarding both how to manage patients with a specific BRCA1 mutation and what drugs are currently under development. These findings have been published in the Cancer Research journal and other media, as follows:
Another example concerns the most prevalent inherited heart disease known by the common name of Cardiomyopathy. In fact, behind this common name there are thousands of different mutations in various genes (i.e. proteins), and it seems that it is more correct to say that you have, for example, a MYH7 gene (Myosin protein) disease which is manifested as Cardiomyopathy, rather than just Cardiomyopathy. It is pretty much the same as breaking a foot – you can do it in thousands of ways :). 20 years after it was shown that Cardiomyopathy was a genetic disease, there is still no cure. This is due to the lack of knowledge about how exactly these mutations alter the proteins functions; thus, it has not been possible for any drug to be developed yet. In 2013 there was a significant progress in this field, which could open the door for drug treatment. In fact, this is one of our main goals and one of the reasons we search for funding – to discover a set of small molecules which can modulate these specific protein functions and to suggest effective treatment for Cardiomyopathy.
Let’s get back to your particular case and your question. There are a lot of companies which can provide you – for about $3000-5000 – with a genetic screen of the known genes that cause Cardiomyopathy, but they do not provide you with sufficient information about how, and even whether!, your mutation/s alter the corresponding proteins and is/are disease-causing. The same problem exists for almost all the other diseases, e.g., BRAF gene mutations in Melanoma and other cancers.
During their scientific carriers, our scientific team members have received a lot of requests from mothers seeking help. Therefore, we offer a deep analysis/research by methods which have been revolutionized for “personal genetics” and can answer the questions above, providing you and your physicians with valuable information about:
- Whether a mutation is disease-causing;
- How it alters the corresponding proteins and protein-protein interactions and pathways;
- And, most importantly, whether the different available drugs will influence your specific mutation.
Thus we make a link between “personal genetics” and “personal medicine”, which seems to be referred to more accurately as “personal treatment”. In many cases a number of drugs are available for certain diseases and, based on our findings, the best one can be chosen by your physicians. Moreover, our partners and we use this information for in house drug discovery in cases when no drug is still available, thus also covering one of the main subjects of “personal treatment”. Indeed, this is not a trivial task, and it will additionally push personal medicine development. Even if a drug is still not developed or is under clinical examination, you will always need such information for your personalized treatment, and your physicians can follow the latest achievements in your particular case based on the results provided by our or some other teams.
There is really a revolution in this field nowadays, and most of the drugs against a number of genetic diseases will most likely be developed within the next decade.