Hi Gabri,
I can't find a single mention of the IVS1+25G>T gene mutation on the internet. The closest I came was a mention of the IVS1-25G>T Gene (note the minus instead of plus). Was this mentioned in the context of beta thal? There are over 200 known mutations that cause beta thal and the number continues to increase as more are discovered. It may be a mutation that has been discovered more recently. These mutations or variations are called Single Nucleotide Polymorphism and a very good discussion of them and the potential to develop medicines for specific patients by identifying these mutations, can be found at
http://www.ncbi.nlm.nih.gov/About/primer/snps.htmlWouldn't it be wonderful if you knew exactly what measures you could take to stave off, or even prevent, the onset of disease? Wouldn't it be a relief to know that you are not allergic to the drugs your doctor just prescribed? Wouldn't it be a comfort to know that the treatment regimen you are undergoing has a good chance of success because it was designed just for you? With the availability of millions of SNPs, biomedical researchers now believe that such exciting medical advances are not that far away...A Single Nucleotide Polymorphism, or SNP (pronounced "snip"), is a small genetic change, or variation, that can occur within a person's DNA sequence...Because of the recent advances in technology, coupled with the unique ability of these genetic variations to facilitate gene identification, there has been a recent flurry of SNP discovery and detection...Researchers have found that most SNPs are not responsible for a disease state. Instead, they serve as biological markers for pinpointing a disease on the human genome map, because they are usually located near a gene found to be associated with a certain disease. Occasionally, a SNP may actually cause a disease and, therefore, can be used to search for and isolate the disease-causing gene...In the future, the most appropriate drug for an individual could be determined in advance of treatment by analyzing a patient's SNP profile. The ability to target a drug to those individuals most likely to benefit, referred to as "personalized medicine", would allow pharmaceutical companies to bring many more drugs to market and allow doctors to prescribe individualized therapies specific to a patient's needs.
The more I read, the more I see that we are in the midst of a medical revolution that will totally change the approach to how many diseases and disorders, including thalassemia, will be treated. If you read the page about SNP's you see that this is very real and that progress is being made at a rapid rate and the information is being made readily available to all around the world, allowing researchers everywhere the opportunity to benefit from this knowledge. Genetic manipulation of sort is already done with drugs and I feel the more that is understood about how it works will lead to new cures and treatments for many diseases. The biggest roadblock right now is funding for specific research. Even the long awaited gene therapy trials for thalassemia have been slow to start as funds were sought for the trials. If only government could change their thinking to where saving people's lives became more important than ending them. Imagine the mountains of money that would be available if we could only change our priorities to those that a civilized world should have.