DNA or deoxyribonucleic acid, is perhaps the most well-known biological molecule. DNA is present in all forms of life on earth. Essentially, every cell in our bodies contains DNA or the genetic instructions - or code - that makes us what we are. DNA has a unique double helix shape, like a twisted ladder and carries these instructions or code for the development, growth, reproduction, functioning and health of all life. Remarkably, if all of the DNA in a human body was unraveled, it would reach to the sun and back more than 300 times.
The code in DNA is determined by the order of the four nucleotide bases that make up DNA, adenine, cytosine, guanine and thymine and is the complete set of genes and is called a genome.
As the National Human Genome Research Institute works to unlock the secrets of the human genome, researchers continue learning that nearly all diseases that we face have a genetic component. Some diseases are caused by mutations that are inherited from parents and are present in an individual at birth, like sickle cell disease, for example. Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person's life. Such mutations are not inherited from a parent, but occur either randomly or due to some environmental exposure like pollutants. Today’s guest is working tirelessly to create therapies to treat genetic diseases. Specifically, Monogenic diseases.
As defined by the World Health Organization, Monogenic diseases result from modifications in a single gene occurring in all cells of the body. Though relatively rare, they affect millions of people worldwide. Researchers estimate that over 10,000 of human diseases are known to be monogenic. Pure genetic diseases are caused by a single error in a single gene in the human DNA.
As you can gather from my brief description, working to treat genetic diseases is complicated, demanding work and requires the commitment and intellectual power of people who are dedicated to finding answers. Today’s guest Scott Sneddon is one of those people. Scott is the President & CEO of Sharp Edge Labs. He is an entrepreneur and scientist trained in chemistry and biology with an emphasis on computational methods. He holds a Ph.D. in Chemistry & Biophysics from Carnegie-Mellon University, a J.D. from Columbia University Law School and has over 20 years of experience in the drug discovery industry, having held leadership positions at Pfizer and Genzyme. At Pfizer Dr. Sneddon was a member of the New Leads Discovery group under innovator Fred Vinick. He then went to Genzyme with Fred to help establish Genzyme's small molecule drug discovery program. There he led the Assay Development and High Throughput Screening group and was a pioneer in implementing high-throughput functional cellular assays for primary drug screening (before such a thing was fashionable).