Summary of The Genomic Landscape circa 2016 - Eric Green

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00:00:00 - 01:00:00

In this lecture, Eric Green discusses the advances made in genomics in the last 13 years, focusing on the importance of the Human Genome Project and the development of new technologies. He highlights the challenges faced by researchers in understanding the function of the human genome and notes that we are on the path to understanding and treating many more common diseases.

  • 00:00:00 Eric Green provides a historical overview of genomics, stressing the importance of the Double-Helical Structure of DNA and the genetic code. He goes on to discuss the progress made in the 1990s and 2000s in the development of molecular biology and DNA cloning tools.
  • 00:05:00 The Genomic Landscape circa 2016 is a transcript of a lecture by Eric Green, MD, PhD, discussing the six accomplishments of genomics in its first quarter century. These accomplishments include the Human Genome Project, which finished ahead of schedule and left a legacy of changing big biology. Eric also discusses the continuing lecture series, which features key individuals involved in the project.
  • 00:10:00 The Genomic Landscape circa 2016 highlights the importance of the Human Genome Project and its impact on human health and disease. Eric Green discusses the challenges and future of genomic medicine.
  • 00:15:00 The 2011 strategic plan for genomics outlines five major domains of research activity for the field. These domains include understanding genomes, understanding biology of genomes, advancing medical science through clinical research, demonstrating that genomic approaches can improve the effectiveness of health care, and being able to think about medical science in terms of human disease.
  • 00:20:00 The cost of sequencing the human genome has been reduced to $1000 or less, thanks to new technologies such as nanopores. The private sector has recognized the importance of this progress, and many of the technologies developed as a result of the genome project are now commercialized.
  • 00:25:00 This 1-hour lecture will discuss the advancements in DNA sequencing technology, focusing on how these advancements have revolutionized genomics and opened up new opportunities for understanding the genetic makeup of humans. Elaine Mardis, a leader in this field, will be speaking on May 25.
  • 00:30:00 The Genomic Landscape circa 2016 - Eric Green discusses the 1,000 Genomes Project, which sequenced the genomes of 26 different populations around the world. The project's goal was to catalog the most common variants across the world, and they were successful in achieving this goal. Most variants are common and don't have any significant health implications, but about 150,000 variants are rare and can lead to genetic disorders in children.
  • 00:35:00 The Genome Project ended 13 years ago, and at the time, we didn't have very good tools for understanding non-gene parts of the genome. However, after studying other genomes, we realized that many of these functional sequences are conserved across many different creatures. This knowledge helped us focus our sequencing efforts on other creatures, which ultimately led to insights about which parts of the human genome are important.
  • 00:40:00 The genomic landscape has changed significantly in the last 13 years, with new discoveries regarding non-coding sequences and epigenomic marks. The Genome Project revealed that DNA is more than just a linear molecule, and that it takes on three-dimensional structures in order to carry out its functions. The ENCODE Project aims to catalog all of the functional elements in the human genome, and is currently in its second phase.
  • 00:45:00 The Genomic Landscape circa 2016 provides insights about functional DNA and the challenge of deciphering the human genome. ENCODE and other efforts have provided data on genome function, epigenetics, and model organisms to help scientists understand genome function. The Genomic Landscape will continue to evolve as new technologies are developed to help scientists understand human disease.
  • 00:50:00 The Genomic Landscape circa 2016 depicts the impressive progress that has been made in understanding the genetic basis of rare diseases, as well as the ongoing challenges faced in decoding the complexity of common diseases. The author notes that thanks to advances in technology and the dedication of many researchers, we are on the path to understanding and treating many more common diseases.
  • 00:55:00 The Genomic Landscape circa 2016 is an overwhelming amount of data coming from sequencing instruments and other new technologies, which is putting us into a new circumstance where the bottleneck is not generating the information, but analyzing it. This bottleneck is one where fancy new methods for sequencing DNA are giving us a circumstance where reading out a genome sequence is not the hard part. You know, the hard part actually is figuring out what to do with the information about the variants in our genomes. As you'll hear from other speakers, there are issues just around hardware and having enough capacity to store all this data, as well as issues of varying software tools and a workforce that is able to do all of this. Some of you are here to help become that workforce, and that includes taking it to the final stage of knowing how to take information, write individual variants, and know how relevant that is for individual patients.

01:00:00 - 01:25:00

The genomic landscape is constantly changing and evolving, and in this video, Eric Green discusses some of the latest advances in the field. He talks about how genomic testing is being used more and more for rare and undiagnosed diseases, as well as for pregnancy. He also discusses the Precision Medicine Initiative, which is a large-scale effort in the United States to use genomic information to improve patient care.

  • 01:00:00 In this video, Eric Green discusses the increasing use of genomic testing for rare and undiagnosed diseases. He also discusses the use of genomics in pregnancy, pointing out that it is becoming increasingly common and has revolutionized the field of prenatal diagnostics.
  • 01:05:00 In 2016, genomic technology has advanced to the point where non-invasive methods such as genome analysis using simple blood draws are becoming more common. Additionally, prenatal testing using genome sequencing is becoming more prevalent. Another hot area of research is generating knowledge about variants and their clinical relevance, which is complicated by the fact that anything that affects medical practice also affects other complex systems. The Clinical Genome Resource ( ClinGen) is trying to build a knowledge base to help busy health care professionals manage patients more efficiently.
  • 01:10:00 Eric Green summarize how the genomic landscape has changed in the past year and how it will continue to change in the future. He talks about how patients are becoming more involved in the conversation about genomic medicine and how the field of precision medicine is expanding beyond genomic medicine.
  • 01:15:00 The Precision Medicine Initiative aims to collect genomic and lifestyle data from millions of people in order to prevent and treat disease more precisely. The President announced the initiative in January of 2015, and it has been growing in popularity since then.
  • 01:20:00 The Precision Medicine Initiative, which was launched in the United States in 2016, is a large-scale effort to use genomic, electronic medical record, and other information to improve patient care. The President and Congress are funding the initiative, which is being piloted with the use of genomic information and other technologies. Data science will become a prominent feature of this effort, as individuals will be partners in the research process and social media will be used to engage them.
  • 01:25:00 This video discusses the genomic landscape in 2016 and discusses some of the new research being done in this area. If you're interested in this type of research, you can subscribe to a monthly newsletter from the speaker.

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