Evan Eichler is a Professor of Genome Sciences and Howard Hughes Medical Institute Investigator. He is a leader in characterizing normal and disease-causing structural variation in the human genome with a specific focus on finishing complex regions that carry genes. His lab demonstrated that such dynamic regions both predispose the human species to disease causing variation associated with autism and neurodevelopmental delay while simultaneously leading to the emergence of new human-specific genes critical for the increase in size and complexity of the human brain when compared to non-human apes.
More than 20 years after it was first announced, the complete sequence of a human genome was finally achieved. Advances in long-read sequencing technology and the dedication of a group of 99 scientists known as the Telomere-to-Telomere (T2T) consortium made this breakthrough possible. The work is important because it provides the first truly complete blueprint of the human genetic code. The research provided access to some of the most genetically complex and repetitive regions of our genome important for chromosome segregation, protein synthesis and for the evolution and adaptation of the human species. It revealed new forms of human genetic variation and our first glimpse of the organization of centromeres and the acrocentric regions of human chromosomes. Now that we have learned to complete one human genome, we now have a roadmap for completing others. The T2T approach will revolutionize how scientists discover mutations associated with disease and transform our understanding of mutational processes important for evolution.