PTC 124, solution of genetic diseases

Orphan Drug (PTC 124) for DMD and CF in the European Union
On July 7, the European Commission approved two indications for orphan drug PTC 124 (made by PTC Therapeutics, Inc.), allowing its use in the treatment of Duchenne muscular dystrophy (DMD) and cystic fibrosis (CF) caused by nonsense mutations.
According to a company news release, an estimated 10% of CF and 15% of DMD patients have these diseases as a consequence of nonsense mutations in the CF conductance regulator and dystrophin gene, respectively, that prematurely halt protein translation.
The single-molecule drug selectively modulates RNA use to allow bypass of the point mutation for the production of full-length, functional proteins. As such, it has the potential to address the underlying cause of disease, in contrast with current measures that may only temporarily slow disease progression or provide palliative benefit.
The approvals were based on the results of phase 1 studies in healthy volunteers showing that the drug is orally bioavailable and generally well tolerated, achieves target plasma concentrations that have been associated with activity in preclinical models, and does not induce ribosomal readthrough of normal stop codons.
Pharmacokinetic modeling of phase 1 data has led to the development of dosing regimens for use in phase 2 studies that are expected to begin in the U.S. later this year. The company is also working with patient advocacy groups and other organizations to develop studies in other regions of the world.
PTC 124 was previously granted fast-track status by the U.S. Food and Drug Administration for the CF indication and orphan drug indications in the treatment of CF and DMD on Dec. 9, 2004, and Jan. 27, 2005, respectively.
Potential indications currently under evaluation include hemophilia, neurofibromatosis, retinitis pigmentosa, epidermolysis bullosa, and lysosomal storage disorders.

Pesronal genome management

There are 160m Americans looking for health information online and somewhere in the realm of 10–30% of those are viewing and creating their own content. But that has made moderate impact on the mainstream press (with Laura Landro being an honorable exception). So it was a little surprising to see both the WSJ and the NY Times feature a related issue in the last week—online genetic screening.

Suddenly the concept of getting your genome tested and laid out online is really hot. 23andme (with its Google connection and Esther Dyson on the board) and Navigenics (with Kleiner Perkins and MDV as blue chip VCs in a $25m round) are the two best known west coast players. 23andme has already found out that Warren and Jimmy Buffet are not related and you can go to their site and sign up for their service for under $1,000. (And learn lots more about it in this Wired article) But they’re not alone. In Boston, Knome is gearing up for something similar and Icelandic company DeCODE genetics, which already has a database with the island’s entire population in it, has also introduced a similar service called DeCodeMe.
And of course there’s The Personal Genome Project. It’s an effort led by George Church and includes 10 people who are putting all their genetic information online. (One is Esther Dyson of course)

Meanwhile, plenty of other companies are doing genetic testing mostly on genealogy grounds. The Genetic Genealogist Blog estimates that some 600,000 tests have been done and they are worth about $300 each. but for an annual market, that’s only $25m. The Genetic Genealogist Blog also has a long list of those genetic companies.
Finally, while there’s all this excitement about doing comprehensive DNA testing, DNADirect has been offering a direct to consumer service for a couple of years which offers the most common tests. You can see their price list here. One estimate which seems in the ball park is that the total market for that testing is $200m.

Pharmacogenetics environment 2007

Today at the Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand,there is a work shop on pharmacogenetics environment 2007, held by the research affairs of the Faculty of Medicine, Chulalongkorn University and GlaxoSmithKlien Pharmaceuticals.
The main topics are ethical concerns and regislation or any kinds of regulation in conduct pharmacogenetics(PGx) and pharmacogenomics(PGm) clinical research.
The speakers were Dr. Chanin Limwongse, a clinical geneticist from the Faculty of Medicine, Siriraj hospital, Mahidol University, Dr Rachaneekorn, a genetic scientist from the Faculty of Sciences, Chulalongkorn University, Dr Wasan Chantratit, a virologist, and bioinformaticians, from the faculty of Medicine, Ramathibodi hospital, Mahidol University, and the representatives of GSK (one from UK and one from USA).
Phamacogenetics and pharmacogenomics are the fields involved with study about variation of the DNA, a single point, multiple points or across the whole genome that resulted to different drug response or adverse effect from the drugs. The data will provide the theoretical prediction for the beneficial and side effects of the drugs. The speakers stated that the major problems of today research are not only the back up resources such as granting agencies, equipments, or personnels, but the lack of public and also the investigators themself awareness of the interpretation of the results, the decision making of participations, and ethical issues and regulations of perform such research.
The pharmaceuticals and researchers predicted that pharmacognetics/pharmacogenomics research will become the main stream research practices to improve rate of licensing of the drugs, safe money to run clinical research and safe more patinets in time.