Genes carry the information that make you you. So it's fitting that, when sequenced and stored in a computer, your genome takes up gobs of memoryup to 150 gigabytes. Multiply that across all the people who have gotten sequenced, and you're looking at some serious storage issues. If that's not enough, mining those genomes for useful insight means comparing them all to each other, to medical histories, and to the millions of scientific papers about genetics. Sorting all that out is a perfect task for artificial intelligence. And plenty of AI startups have bent their efforts in that direction. On August 3, sequencing company Veritas Genetics bought one of the most influential: seven-year old Curoverse. Veritas thinks AI will help interpret the genetic risk of certain diseases and scour the ever-growing databases of genomic, medical, and scientific research. In a step forward, the company also hopes to use things like natural language processing and deep learning to help customers query their genetic data on demand. It's not totally surprising that Veritas bought up Curoverse. Both companies spun out of George Church's prolific Harvard lab. Several years ago, Church started something called the Personal Genomics Project, with the goal of sequencing … Continue reading →

George Frey | AFP | Getty Images A lab technician at Myriad Genetics in Salt Lake City, Utah. Thousands of people are getting genetic tests, for everything from their cancer risk to their likelihood of passing on a disease to a child. But many doctors aren't adequately trained to interpret these results, or tell patients how to act on them. And genetic counselors -- who do have that knowledge -- are in short supply. There are only about 4,000 genetic counselors in the country today. That's one for every 80,000 Americans. That means some patients have to wait months to get a consultation. Start-up Clear Genetics, which launches this week after raising $2.5 million in financing, is trying to make genetic expertise more widely available. The start-up has developed a conversational chatbot to guide a user through their results, collect information and review options for genetic testing, and answer questions about things like whether the test will be covered by insurance. If there's a need for additional support, the patient can then schedule a consultation with a human expert via video or in-person. "We're finding that it's working really well with patients," said Moran Snir, Clear Genetics' CEO, who was … Continue reading →

THE NEWS that researchers have carried out the first known attempt to create genetically modified human embryos is another signpost in an astounding revolution unfolding before our eyes. This is not the first breakthrough nor will it be the last, but it should serve as a reminder an unmistakable one that this realm of scientific inquiry, manipulating the tiny building blocks of life, demands caution as well as enthusiasm and encouragement. The latest effort, led by Shoukhrat Mitalipov of Oregon Health & Science University, with researchers from South Korea, China, the Salk Institute for Biological Studies in California and others, involved editing the DNA of single-cell embryos with CRISPR-Cas9, a tool for genome engineering that is much simpler, faster and cheaper than earlier methods, and which has sparked an explosion of interest in possible applications. According to a report published Wednesday in the journal Nature, the researchers were able to demonstrate that it is possible to safely and efficiently correct defective genes that cause inherited diseases. The embryos they modified were not allowed to develop for more than a few days and were not implanted in a womb. In earlier research in China, the modified DNA was taken up by … Continue reading →

DURHAM Millions of people die every year from dehydration as a result of exposure and illness. In humans, even the most minor dehydration can compromise the kidneys causing lifelong, irreparable issues or even death. However, some animals living in desert environments are able to survive both acute and chronic dehydration. While these animals, like cactus mice, have evolved over time to deal with environmental stressors like dehydration, researchers at the University of New Hampshire have found its not the physical makeup that is helping them survive, but rather their genetic makeup. Initially, we thought that maybe their kidneys are structurally different from people, but theyre not, said Matt MacManes, assistant professor of genome enabled biology at UNH and lead author of the study. However, when exposed to acute dehydration, no kidney injury was apparent, which would definitely be the case for humans exposed to similar levels of dehydration, suggesting their genes may be whats preventing widespread kidney damage. The kidney is the canary in the coal mine when it comes to dehydration, continues MacManes. The exciting outcome of this research is that the molecular toolkit of the cactus mouse has orthologues, or related genes, in humans. These provide the potential … Continue reading →

The ACMG Foundation for Genetic and Genomic Medicine announced Aug. 4 that Indian American Madhuri Hegde of Waltham, Mass.-based PerkinElmer Inc. was elected to its board of directors. "We are delighted that Dr. Hegde has been elected to the ACMG Foundation Board of Directors. She has vast experience in genetic and genomic testing and is a longtime member of the college and supporter of both the college and the foundation," said Dr. Bruce R. Korf, president of the ACMG Foundation, in a statement. Hegde, who will serve a two-year renewable term, joined PerkinElmer in 2016 as vice president and chief scientific officer of global genetics laboratory services. She is also an adjunct professor of human genetics in Emory Universitys human genetics department. Previously, Hegde served as the executive director and chief scientific officer at Emory Genetics Laboratory in Atlanta, Ga.; professor of human genetics and pediatrics at Emory University; and assistant professor at Baylor College of Medicines Department of Human Genetics in Houston, Texas. Additionally, Hegde has served on a number of scientific advisory boards for patient advocacy groups including Parent Project Muscular Dystrophy, Congenital Muscular Dystrophy and the Neuromuscular Disease Foundation. She earned her doctorate from the University of … Continue reading →