June comes Crashing In!

I am sorry it has been 2 days since my last post. Things have gotten crazy recently. I started with the launch of my personalized medicine practice. We are busy dotting the i's and crossing the t's. We have a truly "flat" organization and are able to grow at a moment's notice. This is great news for the patients! Several things are happening in this week and I want to share all of them with you.

1. My wife, daughter and myself were involved in a car crash. I want to remind everyone to please wear your seat belts. If you have children please make sure they are in the appropriate car seat for their age. These simple things allowed us to walk away unharmed. Sometimes it is all about the prevention.
   


2. At Brown University there is a conference being held, Frontiers of Medicine. My team from Helix Health of Connecticut will be up there listening to notable speakers, including Dr. Francis Collins. I look forward to him accepting a position on our scientific advisory board.
   


3. Hsien has posted on a subject I feel very passionate about, predictive, preventative medicine. If PTC-124 works out the way everyone feels it will, then we are looking at adjusting environment to avoid disease. I think this is precisely why the co-funding at NHGRI and NIEHS is so important. Because once we find predisposition we need to find out all the environmental effects. Otherwise we just know you are at risk.
   
4. Lastly, the Gene Genie is coming. I would like to thank Hsien for hosting this month's edition and Berci for motivating me to post. Have a look at Eye on DNA!

The Sherpa Says: Buckle up. June is gonna be one heck of a ride!

Drug overcomes mutations

Today in the Times Online an article introduces a new type of medication. Called PTC124, this medication allows ribosomes to "pass-over" nonsense mutations, allowing for fully transcribed protein. The functional properties of PTC124 are similar to the aminoglycoside antibiotic gentamicin, but the two compounds are chemically distinct and PTC124 does not exhibit any antibiotic characteristics. In vitro experiments showed PTC124 to be superior to gentamicin at ribosomal read-through of nonsense mutations. Currently the drug has passed Phase II trials of Duchenne Muscular Dystrophy and of Cystic Fibrosis

If we look at disease burden in rare genetic diseases, nonsense mutations(mutations coding for a stop sequence in the middle transcription, resulting in a truncated protein/mRNA) make up a significant amount of afflicted patients. Here is a press release from the company. It does turn out that this company is privately held, but I am sure Genzyme or another company is looking for a new M&A target.

Here's what the Gene Sherpa says, PTC124 could hold tremendous promise however I will await phase III trial results. There are always unanticipated outcomes, possibly tumorigenesis(cancer creation). Trials are currently recruiting if you are interested.That being said, we may see the development of other molecules designed to overcome our genetic shortcomings.

Lastly I just want to be perfectly clear about what I had said in a previous email. It may alienate me from other blogs, or hired gun blogs for certain DTC testing companies. Just look for the Gene Sherpa link. If it's gone on your favorite blogs, then chances are we have a shill.
When Han Solo told Luke that travelling through Lightspeed isn't like dusting crops I am certain he was talking about genetic testing. In home testing has no place in this world, unless it is guided by a TRAINED professional. I hope too many people will not be harmed by this senseless promotion of testing without counseling. No offense to other doctorates, but I took an oath to help or at least do no harm. Primum Non Nocere Unfortunately, most of the professionals marketing these tests have not. The physicians employed by them perhaps have forgotten this oath.