Illumina Genomics Podcast

In vitro fertilization (IVF) is a reproductive technology used to overcome infertility, an inability to become pregnant that affects 1 in 6 couples. Dr. Nathan Treff is Chief Science Officer of Genomic Prediction in North Brunswick, New Jersey. He discusses the technology behind preimplantation genetic screening (PGS), a genetic test that may improve IVF success rates.

Neurodegenerative diseases are characterized by the death of brain tissues. The causes are unknown, and no effective therapies are available. These diseases can lead to dementia, a medical and economic challenge for society. The UK Dementia Research Institute and Illumina recently hosted a panel of experts to discuss the genetics of dementia, and we feature highlights in this episode.

Atopic dermatitis (eczema) is a skin inflammation disorder that affects nearly 20% of people. The causes are unknown, but it has been associated with changes in the human skin microbiome. Dr. Julie Segre is Chief of the Translational and Functional Genomics Branch at the NHGRI, in Bethesda, MD. She discusses how NGS is used to study the human skin microbiome and eczema.

Familial hypercholesterolemia is a genetic disorder leading to elevated cholesterol and early cardiovascular disease. Globally, about 1 in 250 people are affected, but only 10% have been diagnosed. Dr. Guillaume Paré is Professor of Medicine at McMaster University in Hamilton, Ontario, Canada. He discusses how genetics can help identify people at risk of heart attack.

African populations migrated out of Africa between the 15th and 19th centuries. Understanding the genetics of this African diaspora is providing important insights in human history, health, and disease - especially in populations of African ancestry. Dr. Charles Rotimi of the NHGRI in Bethesda, MD, discusses his research in the genomics of the African diaspora.

Cancer is the second leading cause of death globally. Cancer is driven by DNA sequence errors in genes, or by gene expression changes without DNA sequence errors. This latter process is called epigenetics, and we discuss epigenetics and epigenomics of cancer with Dr. Peter Scacheri, Professor of Genetics and Genome Sciences at Case Western Reserve University in Cleveland, OH.

Up to 30 million Americans and 30 million Europeans are currently living with a rare disease. Most are caused by changes in genes but identifying these causative gene sequences can be extremely difficult. Dr. Charis Eng, Chair of Cancer Genomic Medicine at the Cleveland Clinic, discusses the genomics of Cowden's Syndrome, cancer risk, and precision medicine.

The National Human Genome Research Institute, or NHGRI, has launched a new round of strategic planning to establish a 2020 vision for genomics. In a celebration of National DNA Day 2018, Dr. Eric Green, the Director of the NHGRI, joins us for a discussion of the Human Genome Project, the state of genomics today, and where genomics is likely headed in the future.

Complex diseases are associated with genetic, environmental, and lifestyle factors. Genome-wide association studies, or GWAS, use arrays to identify DNA variants associated with traits or diseases. Professors Struan Grant and Andrew Wells of the Children's Hospital of Philadelphia discuss how they use NGS to map variants to causal genes.

Eukaryotic cells and their membrane bound organelles evolved from the uptake of a prokaryotic cell into another cell - a process called endosymbiosis. Professors Bebashish Bhattacharya and Dana Price of Rutgers University discuss how single-cell genomics of algae can help unravel the mystery of endosymbiosis and its impact on our health and the environment.

Encephalitis is a brain inflammation that affects 4 million people worldwide. Although caused by infection or by autoimmunity, 50% of cases are never explained. Dr. Michael R. Wilson is Assistant Professor of Neurology at the University of California San Francisco. He discusses how genomics can help us understand the causes of brain inflammation.

The human gut microbiome includes trillions of microbes that are important in health and disease. Genomics has revolutionized our knowledge of human gut microbial complexity. Dr. Ami Bhatt is Professor of Medicine and Genetics at Stanford University. She and her PhD student, Jessica Ribado, discuss how the human gut microbiome impacts human health.

Cell ontology is the vocabulary for defining cell types, and it's important in biology. Single-cell genomics is revolutionizing cell ontology but combining large data sets with classical knowledge is challenging. Dr. Richard Scheuermann, La Jolla Campus Director at the Venter Institute, discusses single-cell sequencing and computational methods to classify cell types.

The human genome was completely sequenced in 2003 - or, was it? Robert Fulton discusses his efforts to try and finally complete the human genome and to build a better human genome reference. Bob is Professor of Genetics at the Washington University School of Medicine, and Director of Development at the McDonnell Genome Institute in Saint Louis, Missouri.

We live in harmony with trillions of microbes in and on our bodies - the human microbiome. These microbes outnumber your cells by 10 to 1, and their genes outnumber yours by 100 to 1. But, what do they do? Dr. Kristine and Todd Wylie, Professors of Pediatrics at Washington University in St. Louis, discuss how they use NGS to understand the human microbiome and its association with health.

According to the US National Library of Medicine's Genetic Testing Registry, 10,000 conditions can be identified with genetic testing. The high-throughput and relatively low cost of NGS is advantageous for multigene testing. Dr. Samuel Myllykangas, co-founder of Blueprint Genetics, discusses how current and future NGS innovations may impact genetic testing.

According to the US National Cancer Institute, 15,000 children and adolescents will be diagnosed with cancer in the United States this year. Fortunately, research has improved the outlook for children with cancer. Dr. Todd Druley, Professor of Medicine at Washington University, discusses how next-generation sequencing is reshaping our understanding of childhood cancer risk and biology.

The critically endangered Saimaa ringed seal is found only in Lake Saimaa, in Finland. Their isolation makes them an excellent model system for studying population and genetic bottlenecks. Dr. Petri Auvinen is a Research Director at the University of Helsinki in Finland. He discusses the Saimaa ringed seal genome project and its impact on saving this animal species from extinction.

To enable precision medicine in cancer, health care providers need a solid understanding of genetic information. Drs. Obi and Malachi Griffith are Professors of Medicine at Washington University in St. Louis, MO. They discuss their work in improving bioinformatics education and improving clinical interpretations of sequence variants in cancer.

Personalized medicine involves using a patient's genomic information to better predict disease risk, prognosis, and treatment response. Current genomics-based diagnostic platforms typically use DNA. Dr. Dave Messina is Chief Operations Officer at Cofactor Genomics in St. Louis, MO. He discusses the benefits and the challenges in using RNA sequencing as a diagnostics platform.