Author: Chong He

Interview with Dr. Nicholas Schork: Association Studies Involving Whole Genome Sequencing

Dr. Schork is a Professor and the Director of Human Biology at the J. Craig Venter Institute and an Adjunct Professor of Psychiatry and Biostatistics at the University of California, San Diego. He is also the Head of Integrated Genomics at Human Longevity, Inc. located in San Diego. Dr. Schork’s interests and expertise are in quantitative and integrated human genetics and genomics. He is especially interested in the design and implementation of methodologies to dissect the genetic basis of complex traits and diseases. In his recent seminar at the Buck Institute, Dr. Schork described some of the challenges in...

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Interview with Dr. Michael Vellard of Ultragenyx Pharmaceuticals on Rare Diseases

Research Background Dr. Vellard joined Ultragenyx Pharmaceutical as Vice President of Research in May 2013. Prior to joining Ultragenyx, Dr. Vellard worked as Head of Lysosomal Biology at BioMarin Pharmaceutical Inc., a biopharmaceutical company, from October 1999 to May 2013. He was a postdoctoral fellow in the pediatric department at UCLA Harbor Medical Center from September 1992 to June 1995. Dr. Vellard received his B.S. in Natural and Life Sciences and M.S. in Molecular and Cellular Genetics from the University of Lyon I, France.  He obtained his Ph.D. in Virology from the Pasteur and Curie Institutes (Universities Paris VI, VII and XI), France. Q: Why did you join BioMarin? MV: Because I always wanted to work on something more practical. Even before I started my postdoc, I always wanted to treat actual patients. My postdoc work focused on lysosomal diseases. I came to BioMarin because I was able to continue working on the same types of disease I was interested in. Doing fundamental research is also important, but it might take 10 years before it can be applied to patients. For me, it is amazingly rewarding to see patients get a lot better after your treatment. For example, kids who have Morquio Sydrome are not able to walk. But after 6 months of our enzyme replacement treatment, they can go to bathroom by themselves. There is nothing better than to...

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Interview with Dr. Thomas Kidd: Axon Guidance at the CNS Midline

Axon Guidance at the CNS Midline:  Changing Responses to External Cues The wiring of the central nervous system (CNS) is composed of axons, specialized extensions of neurons that transmit electrical impulses to other cells. During development, axons navigate long distances to their targets in the CNS. Thomas Kidd’s Lab uses the fruit fly model to study how axons navigate properly. In the fly equivalent of the spinal cord, axons are attracted to the center of symmetry, the midline, by diffusible proteins called Netrins. Deletion of the genes encoding Netrin proteins prevents axons from crossing the midline, and expression of Netrin proteins at the midline is sufficient to rescue axon connectivity defects. Interestingly, Dr. Kidd found that one Netrin family member, Netrin-B, also promotes neuron survival, and that preventing cell death is sufficient to make neurons re-connect to other neurons even in the absence of guidance cues. Thus therapeutics designed to keep neurons alive after injury may be able to stimulate neurons to re-grow or sprout new connections. Q: What is the big picture of your field? TK: “People think that axon guidance is a solved problem. Axon guidance was a hot topic in the 90’s when the idea first came out. Some might say that now we are just filling in the details, but I still think that there are a lot of things that need to be understood....

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