As we all remember from 8th grade biology, Gregor Mendel is known as the “father of modern genetics.” Mendel’s experiments with pea plants made him realize that there are certain genetic traits (he was testing pea size, shape, color, etc.) that get passed down to the offspring. This inheritance of genetic traits is based on recessive and dominant alleles. One of the many traits considered to be a Mendelian trait is blood type. If the mother has blood type A, her genotype can either be AA or AO, where each allele was passed down from her mother and her father. If she has children with a man who is blood-type B, his genotype can either be BB or BO. Since the trait for blood-type O is recessive, their offspring would need to inherit both of the recessive O alleles. Traits such as eye color and hair color were previously believed to follow similar genetics, but more recent research states that there are multiple factors involved. Mendelian traits include much more than just blood type. In fact, many diseases are considered to be Mendelian traits. Some of these diseases include Huntington’s disease, cystic fibrosis, sickle-cell disease and many more. If a child has the autosomal dominant allele for Huntington’s disease, he or she will 100% have the disease. But what if this wasn’t always the case? What if, among us, there are people with “super” genetics that can defy the odds?
In a recent study published in the journal Nature Biotechnology by a team of international scientists led by researchers at Icahn School of Medicine at Mount Sinai in New York City, the team searched the genomes of 589,306 people—a remarkably massive sample size. In these people, they looked at 874 genes that are linked to 584 genetic diseases, mainly Mendelian diseases, such as cystic fibrosis, Tay-sachs and Pfieffer syndrome. These Mendelian diseases are caused by mutations that are believed always to result in the individual developing the disease. So how did this research team get their hands on nearly 600,000 human genomes? A large portion of the 600,000 human genomes came from at-home, personal genetics test, much like the test offered by New Amsterdam Genomics. Customers have the option to select a box to allow their DNA to be used in research studies, such as this one. By compiling all this data, the research team identified 15,597 potentially resilient individuals. However, the research team wanted to further refine their rigorous screening, making sure there were no false-positive. By doing this, they were left with 13 patients who they believe to be resilient to diseases. These 13 patients had medical records that indicated they were healthy, despite carrying a mutation for one of the eight severe diseases. It seems as though these 13 people evaded an inevitable fate, simply by some genetic differences.
So what does this mean for the 13 people who apparently evaded a sickly life-sentence? Dr. Stephen Friend, the scientist who lead the study, stated, “There must be some protective element for them to have escaped the severity of the symptoms that would have been expected.” The implications of this study are monumental; the 13 people who have these “super” genomes can get their entire genomes sequenced and then scientists can subsequently find the underlying factors that contributed to their invincibility. With CRISPR on the rise, scientists one day may be able to remove, add, or tweak different genes from the humans with “invincible” genes.
The significance of this study is, in fact, twofold. More than just finding out that there might be “super” genomes out there among us, this study also showed the significance of genome-wide association studies (GWAS). GWAS are studies of large, diverse groups of people that seek to find commonalities in their DNA that may explain a disease or condition. GWAS gather a large portion of their information from at-home test-kits, such as the one provided by New Amsterdam Genomics. New Amsterdam Genomics is more than just learning about yourself—it provides the medical community with vital information on genetics, and with your genetic contribution, researchers can continually find out more about gene-disease links.