The new human genome!

A slight mutation in the matched nucleotides c...

A slight mutation in the matched nucleotides can lead to chromosomal aberrations and unintentional genetic rearrangement. (Photo credit: Wikipedia)

So this week, in over 30 different journals, a detailed study was reported on the nature of the over 3 billion nucleotides (the fundamental building blocks of genes and thus of DNA) that make up the human genome.  In the turn of this century, the human genome was completely sequenced (identified at the nucleotide level).  At that time it was thought that only 1.5% of those 3 billion plus nucleotides were functional and directly coded for proteins.  Much of the remaining 98.5% of the human DNA material in all of our chromosomes where thought to be junk DNA, thus serving little to no function.

However, this has been challenged greatly by new studies published this week suggested that as much as 80% of all the DNA in our cells are functional.  They define functional as the following: nucleotides that do not code for proteins but that does for RNA that is not translated in proteins (but can be regulatory in nature), nucleotides that themselves bind proteins, or nucleotides that affect the shape of the DNA in one way or another.  Thus is a far cry from the thought that most of the genome in our bodies is junk.

What does this mean in the real world and will it revolutionize medicine and science. It certainly means that labs all around the world working on their favorite gene or gene location will pay a lot more attention to sequences outside of the traditional gene unit (usually includes, enhancer, promoters and the introns and exons of the genes themselves).  More and more data will probably come out from labs on novel regulatory mechanisms from far away gene sequences and so on.  However, clinically t is doubtful that this new finding will bear any direct relevance to treatment and disease.  Just as the impact of the human genome was rather weak after the initial wave of euphoria, this too will pass.

Human genome

Human genome (Photo credit: Wikipedia)

cancer chemoptherapy

...of course, this was prior to the actual zap...

Image via Wikipedia


So, let’s talk about cancer therapy for a moment.  The major forms of therapy include Surgery, Radiation Therapy, Chemotherapy and targeted therapy.  Of course, surgery will be performed if it can be to remove the cancer (e.g. the tumor).  If the cancer is more advanced, than surgery alone will rarely help so one adds radiation to help with the more advanced forms of therapy.  May times radiation may not work so many tumors do respond to chemotherapy (drugs used to kill cancer cells) treatment.  The last form is more recent and is under intense research, but is used when advanced information is known about the biology or molecular biology of the tumor…it is a more specific and specialized form of therapy that can improve the life of some cancer patients.  The whole goal of cancer treatment is to remove or kill off the tumor if possible and if not help the patient to live as long as possible…to extend their life and to make life less painful if possible.  Please do ask me more questions and do come and visit my web page often! 

Dr Charles