The Human Genome:
When it comes to identifying rare disorders, we begin by looking at genes, which are made from long strands of DNA that carry our genetic information. Each strand is made of chemical units – think of them as building blocks, each lettered either
A, C, T or G, representing types of nucleotides.
DNA is made up of more than 3 billion nucleotide bases.
Imagine that they are building blocks stacked one on top of the other.Together, they would stretch halfway to the moon.
Simply put, genomics is the study of our genetic material, which is like a kind of blueprint for what and who we are – our human-ness and our individual-ness. It’s the reason why your hair may be brown, your eyes blue and your height is on the tall side. More than that, it controls how our bodies function – from growth and movement to our overall health. It also determines whether you are more likely to develop certain diseases.
Genomic research has come a long way
to help treat people with heart disease, asthma, diabetes and cancer. Read about our most recent findings for rare diseases.
Benefits of Genomic Research
Understanding a rare disorder comes from identifying specific changes in a person's DNA. When the genetic code is altered through a mutation, it causes the gene to malfunction.
By learning how these changes lead to disease, we can begin the search for treatments.
How it works: Unlocking the Genetic Sequence
Reading these strings of characters is the key to understanding and hopefully diagnosing any one of the 10,000+ rare and often undiagnosed disorders that affect over 15 million kids in the U.S.
So what’s the big deal in finding that troublesome code? Well, there are over 20,000 genes, and every single gene is made up of thousands and sometimes hundreds of thousands of chemical bases. That’s A LOT of possible combinations. Where do we begin?
How these 3 billion building blocks are put together
– is the code that triggers an action or trait. For instance, a person with this set — AAACCGGTTTAA – will have blue eyes.
The Key to Understanding:
Remember the 3 billion alphabet blocks stacked halfway to the moon, representing a single strand of DNA? Imagine trying to read the letters on each block. Now, look for one block that is out of sequence by comparing it to the stacks of blocks from family members and others around the world – with each stack going up just as far. That’s pretty complex stuff, right?
Fortunately, this is where the power of technology, guided by TGen’s experts, comes in. With some of the industry’s most advanced super computers performing trillions of calculations, we crunch data day and night, looking for correlations and clues that we can use to gain the clarity and insights needed for a diagnosis.
This process of reading, decoding, analyzing and comparing all this data is a herculean task. But, step-by-step, as we gain a clear view and a new diagnosis, our scientists set out on a path to treatment. Together with our clinical staff, and strengthened by our caring support system of families, friends, doctors and civic groups, we hope to provide our children with a higher quality of life, and in the best case scenario, a cure. It doesn’t matter how far we have to go to find it – no matter how many trips it takes — we’ll keep shooting for the moon…even if it’s just halfway.