Humanity's Code. Sponsored by: Cincinnati Children's
One of the most stunning displays in the natural world is a murmuration. Seen up close, the movements of the starlings appear chaotic, disjointed.But step back and you see beautiful order—form and function. Patterns emerge from the noise. Individual members acting as one.
So is the case with the human genome.
So the beauty of humans are that we're complex no one person is the same as any other and that's really reflected when you're trying to do science is that although we say we're studying a disease we're really studying individual people within a disease. It would be a lie to say that genetics is not complicated, it is, but we're beginning to find areas where we know enough that we can find situations where we can take action to avert or ameliorate disease.
DNA's four key building blocks (A,C,T & G for short) are found in every cell of our bodies. The information within those building blocks plays a key role in the orchestration of life's processes in ways medical science is only just beginning to understand.
The most challenging data right now in terms of its size is genomic data, and that genomic data at its essence is just 4 letters but each person has 3 billion of these letters and when you spread that out it's a lot of data and it overwhelms us and so we need better ways to use that information to find more insights.
Collecting and analyzing all of this genetic data is known as biomedical informatics.
So you hear methods like machine learning and artificial intelligence. The new buzz word now is deep learning. These are all computer science techniques that can look at different types of data and find patterns and associations that make sense. So we're kind of reducing the complexity of the problem.
Making sense of all of this data requires massive amounts of computing power and creative ways of looking at it. Billions of data points are translated into visual tools like network association diagrams and heatmaps. From these tools, overlaps and patterns begin to emerge, which help direct researchers to key discoveries.
The data that is generated is so huge, it's difficult for any individual group to keep up-to-date. So here for example is an elliptical known as a gene, and these are the different functions or what they do in the body. So others using it, not just us from India, China, UK, everywhere.
Thanks to a number of advances in technology, pooling this data will help forge new paths of discovery related to the genetic causes of disease.
So it's really quite amazing the improvements in the communication industry have really propelled science forward. Collaboration, it's the name of the game. Throughout the world to really see the genomic variability and understand its impact on disease requires larger groups of patients, working with larger groups of researchers, getting larger data sets together.
One path to discovery these researchers are taking relies on the power of numbers.
Many of the diseases we see at children's hospitals are very rare so we don't have enough patients to really study them very effectively. If there are seven, or eight, or nine, or 10 thousand rare genetic disorders that only affect 50 or 100 children each year, how are we going to help those children? We need a new model.
Sequencing and analyzing the genomes of large populations requires unprecedented collaboration. So leaders from the nation's top children's hospitals formed a completely new kind of partnership.
It became very obvious that one institution would never have enough children in any one particular disease to really understand the genetics of a disease or genetic therapies for a disease. Therefore, a couple of years ago, Boston Children's Hospital, Children's Hospital of Philadelphia, and Cincinnati Childrens decided to try and pull their efforts together and create what we call the Genomic Research and Innovation Network.
GRIN's three participating hospitals are focused on sharing their genetic data sets to help accelerate new medical discoveries.
GRIN represents this incredible effort to break down the barriers across three institutions who are working towards the same goals under the same mission. To improve the health of children at a much greater pace. And we've gotten researchers across these different places to start working with each other and their sharing data in ways we've never really seen before. It's really been terrific. We believe the GRIN network will help to set standards by which we'll be able to involve patients and their families in genomic research, be able to conduct large scale research, set the standards for how genomic research could be conducted across the country and eventually be scalable to many other children's hospitals around the country. Our vision can we share all the data that we have across thousands of rare disorders that we see.
These partnerships will help drive new discoveries for genomic medicine. More importantly, GRIN will help move discoveries forward at an unprecedented rate.
How can we take the health care system and use it to learn and accelerate discoveries, accelerate care improvements, make lives better for all of our patients. It always starts with the patient, it always should come back to the patient. Patients are really participants, their co-producing solutions with us. So these efficiencies, and these alignments, creates a resource unique in pediatrics.
This work will help doctors diagnose and treat conditions earlier in childhood and even use an individual's genes to more accurately prescribe medicine. Ultimately, we can improve the lives of children through the power of numbers found deep within Humanity's Code.
That's what we as pediatricians want to see. We want to see those incredible turn of events so that children are living longer and healthier lives, their our most important citizens.