Well, this is going to be awkward. I really really want to hear this upcoming talk by Evan Eichler. But alas, Jane Lubchenco - head of NOAA - is talking at the same time. And sorry Evan, but Jane wins - this time (never heard her speak before).
UC Davis M.I.N.D. Institute's 2011-2012 Distinguished Lecturer Series
SPEAKER: Evan E. Eichler, Ph.D.
TOPIC: Copy Number Variation, Exome Sequencing and Autism
DATE: Wednesday, January 11, 2012
TIME: 4:30 pm - 6:00 pm
LOCATION: M.I.N.D. Institute Auditorium (2825 50th Street, Sacramento)
Biographical / Presentation Information (attached and pasted below):
Evan E. Eichler, Ph.D., is a Professor and Howard Hughes Medical Institute Investigator in the Department of Genome Sciences, University of Washington School of Medicine. Dr. Eichler is a leader in an effort to identify and sequence normal and disease-causing structural variation in the human genome. His research group provided the first genome-wide view of segmental duplications within human and other primate genomes. The long-term goal of his research is to understand the evolution and mechanisms of recent gene duplication and its relationship to copy number variation and human disease. A graduate in biology of the University of Saskatchewan, Canada, he received his Ph.D. in 1995 from the Department of Molecular and Human Genetics at Baylor College of Medicine, Houston. After a Hollaender post-doctoral fellowship at Lawrence Livermore National Laboratory, he joined the faculty of Case Western Reserve University in 1997 and later the Department of Genome Sciences at the University of Washington in 2004. He was a March of Dimes Basil O’Connor Scholar (1998-2001), appointed as an HHMI Investigator (2005), and awarded an AAAS Fellowship (2006) and the American Society of Human Genetics Curt Stern Award (2008). He is an editor of Genome Research and has served on various scientific advisory boards for both NIH and NSF.
Copy Number Variation, Exome Sequencing and Autism.
It has become apparent that genetic structural variation contributes significantly to both neurocognitive and neuropsychiatric disease. I will present a detailed study of the genomes of children with developmental delay compared to adult controls and show that as much as 14% of pediatric disease, including autism, epilepsy and intellectual disability, is caused by deletions and duplications of large segments of the genome involving multiple genes. These mutations can be either inherited or found in the parents of children depending on the size of the event. I will present evidence from exome sequencing of over 200 parent-child trios with sporadic autism and show how these data may be used to pinpoint novel genes underlying CNV (copy number variation) burden, as well as provide insight into new pathways. We find that some of the same disease-causing mutations can manifest very differently and in particular be more severe if they occur on a background of other compounding mutations. We predict that the overall burden of rare and private severe mutations will correlate with different outcomes ranging from autism, intellectual disability and epilepsy. We propose that the early development of the brain is particularly sensitive to the timing and expression of many different genes and that multiple genetic perturbations within specific pathways can lead to disease with varying severity.
Showing posts with label seminars. Show all posts
Showing posts with label seminars. Show all posts
Wednesday, January 11, 2012
Two seminars from Jane Lubchenco at #UCDavis - fun, fun and fun
Another cool seminar speaker at UC Davis. This time we get to hear from Jane Lubchenco - Director of NOAA brought to Davis as part of the Storer Seminar Series. She will be giving two seminars
January 11
ARC Ballroom A 4:10 PM - "Public Lecture"
Sustaining the Beauty and the Bounty of Oceans: Grand Challenges for Science and SocietyJanuary 12
2 Wellman, 4:10 PM
Cutting-edge but relevant science: Whose responsibility is it?
Monday, January 9, 2012
Today at UC Davis - Joe Derisi "A Seminar in Two Acts: Honey bees and Malaria"
So psyched for today's talk by the one and only Joe Derisi (who I have written about here before).
Monday, January 09th, 2011 in the Genome Center auditorium 1005 starting at 10 a.m. on two different genomics stories, entitled "A Seminar in Two Acts: Honey bees and Malaria".
Monday, January 09th, 2011 in the Genome Center auditorium 1005 starting at 10 a.m. on two different genomics stories, entitled "A Seminar in Two Acts: Honey bees and Malaria".
Thursday, December 1, 2011
Charles Vest Seminar "The 21st century university: Purpose, problems & promise" wrap up
Here is a wrap up, via my twitter posts and responses to them, of the seminar yesterday by Charles M. Vest, ex head of MIT and current head of the National Academy of Engineering. I know it is a bit lazy not to rewrite a summary but I think the tweets do an OK job ...
UPDATE - some new links regarding the talk
UPDATE - some new links regarding the talk
- Flash Video: The 21st century university: Purpose, problems and promise
- Interview: Read more of the Q&A with Vest
Here are my tweets:
 | phylogenomics Awaiting seminar by CHarles Vest, Pres. of US Natl. Acad. Engineering, past pres. of MIT #UCDavis 11/30/11 4:07 PM |
| phylogenomics Vest seminar "The 21st Century Research University Purpose, Problems and Promise" #UCDavis 11/30/11 4:08 PM |
| phylogenomics Charles Vest http://t.co/NlxrgeeE says Linda Katehi is an admired educational leader throughout the country #UCDavis 11/30/11 4:10 PM |
| phylogenomics Charles Vest: two main challenges for universities now are globalization and access (i.e., access to education) 11/30/11 4:13 PM |
| phylogenomics Charles Vest: currently trend to "brain interaction" across the globe, but need to work on how to connect people & computers better 11/30/11 4:14 PM |
| phylogenomics Vest: FoldIt tool is evidence for "collective intelligence" - the researchers involved weren't just integrating computers but brains 11/30/11 4:15 PM |
| phylogenomics Vest discussing book A New Culture of Learning by Douglas Thomas and John Seely Brown "www.newcultureoflearning.com/" 11/30/11 4:16 PM |
| phylogenomics Vest says location of universities still matter for many reasons incl. people need to be together and universities are embedded in cultures 11/30/11 4:17 PM |
| phylogenomics Vest: purpose of research universities is "to create opportunity" (1) for graduates, (2) for business/industry (3) nations/regions 11/30/11 4:19 PM |
| phylogenomics Vest: though research universities have many purposes, must be patient b/c hard to predict when benefits will occur 11/30/11 4:20 PM |
| phylogenomics Vest: MIT and Stanford work very well b/c research is side by side w/ applications 11/30/11 4:21 PM |
| phylogenomics Vest: few people understand that research universities are central to innovation (e.g., computing, laser, internet, gennomics) 11/30/11 4:22 PM |
| phylogenomics Note - I might disagree with Vest's claim that Universities drove genomic innovation 11/30/11 4:23 PM |
| phylogenomics Vest: virtually every job in America depends on one or more university based innovations 11/30/11 4:23 PM |
| phylogenomics Vest six lessons including (1) teaching and research must be intimately intertwined and are inseparable 11/30/11 4:24 PM |
| phylogenomics Vest lesson 2: quality of research university is determined by quality of its faculty 11/30/11 4:25 PM |
 | oldivory @phylogenomics I've quit telling kids to interview the faculty when applying to colleges. Parents don't get it either. Ah, well. 11/30/11 4:29 PM |
| phylogenomics @oldivory good idea ... 11/30/11 4:30 PM |
| phylogenomics Vest: need in particular young faculty to grow up through rising w/in university 11/30/11 4:26 PM |
| phylogenomics Vest lesson 3: science can flourish only in an open environment #herehere 11/30/11 4:26 PM |
| phylogenomics Vest lesson 4: young faculty must be free to study and teach what they believe is important (e.g., should not be assistants to Sr. faculty) 11/30/11 4:27 PM |
 | KSBruno9 @phylogenomics so not the European model. 11/30/11 5:11 PM |
| phylogenomics Vest lesson 5: competition engenders excellence in universities (drives improvement in research, teaching, ideas, facilities, etc) 11/30/11 4:28 PM |
 | rmtakata @phylogenomics @carloshotta Mild competition. Wild competition could lead to cheating, forgery, distrust, sabotage... 11/30/11 4:32 PM |
| phylogenomics @rmtakata @carloshotta he did not say it was perfect, just that it can be useful 11/30/11 4:34 PM |
| phylogenomics Vest Lesson 6: fundamental scholarship and research must be equal w/ applied research and innovation 11/30/11 4:29 PM |
| phylogenomics Vest: there is a danger in focus on applied issues that we ignore search for truth - must not be too utilitarian 11/30/11 4:30 PM |
| phylogenomics Vest says "never in his lifetime has it been so hard to hang onto his optimism" b/c Washington is broken 11/30/11 4:32 PM |
 | tjsharpton As a young researcher, this concerns me RT @phylogenomics Vest says "never in his lifetime has it been so har… (cont) http://t.co/eZwvMurX 11/30/11 5:23 PM |
| phylogenomics Vest: v. concerned w/ financial pressures on universities especially as it affects access & this started even before recent financial issues 11/30/11 4:33 PM |
| phylogenomics Vest: in the last decade real per student state appropriations have dropped >20% while costs have risen 11/30/11 4:35 PM |
| phylogenomics Vest: response to financial issues will be cut back on low demand classes, fewer low/middle $$ students, decr. in merit based aid & all bad 11/30/11 4:36 PM |
| phylogenomics Vest: the favorite solution to State university financial problems is to seek out of state students; this spirals out of control 11/30/11 4:37 PM |
| phylogenomics Vest: cites U. Michigan slogan from 19th century "an uncommon education for the common man" 11/30/11 4:37 PM |
 | jim_croft nice... but also woman? RT @phylogenomics: Vest: cites U. Michigan slogan from 19th century "an uncommon education for the common man" 11/30/11 4:43 PM |
| phylogenomics @jim_croft I was not endorsing - just reporting 11/30/11 4:44 PM |
| jim_croft @phylogenomics of course - the sentiment is perfect, the wording is excellent, for its time, just a little dated in some circles today. 11/30/11 4:49 PM |
| phylogenomics Vest references Vannevar Bush's vision "Science The Endless Frontier" for research & for access http://t.co/9n1Q0LAF 11/30/11 4:39 PM |
| phylogenomics Vest references Vannevar Bush Quote on education access http://t.co/LmE1bTF7 11/30/11 4:42 PM |
| phylogenomics Vest: we must be good citizens of the world and contribute to and learn from increasing globalization of education 11/30/11 4:43 PM |
| phylogenomics Vest: all regions of the world are more/more linked/integrated w/ shared environment, challenges, resources, knowledge, humanity 11/30/11 4:45 PM |
| phylogenomics Vest: modern research universities concept was developed from Humboldt University in Germany in 1800s -> JHU in US -> others in US -> global 11/30/11 4:46 PM |
| phylogenomics Vest says he has a hard time contemplating scale of educational expansion in China and India 11/30/11 4:46 PM |
| phylogenomics Vest: the Yin and Yang of Universities are Competition and Collaboration 11/30/11 4:47 PM |
| phylogenomics Vest: people everywhere need opportunity from universities and thus MIT developed "Open Courseware" for anyone to use anywhere/anytime 11/30/11 4:48 PM |
| phylogenomics Vest: Open Courseware movement has spread globally - and it (and related initiatives) are a revolution 11/30/11 4:49 PM |
 | mikedelic @phylogenomics I've taken free courses from Stanford and MIT that imwoudlnt have been able to back in the day. Love open source education 11/30/11 5:07 PM |
| mikedelic @phylogenomics my favorite was Robert sapolsky's behavioral biology course from Stanford 11/30/11 5:08 PM |
| phylogenomics Vest: openness is the true spirit of education, democratization and empowerment 11/30/11 4:49 PM |
| phylogenomics Vest refs: "Unlocking the Gates" and "Abelard to Apple" - books about open education 11/30/11 4:50 PM |
| phylogenomics Vest: in 21st century we are observing the early emergence of a "Meta University" via open materials and platforms 11/30/11 4:51 PM |
| phylogenomics Vest: must rekindle spirit of research university as provider of opportunity while also promoting openness 11/30/11 4:52 PM |
| phylogenomics Here is more form Charles Vest on the "meta university" http://t.co/tJ0fNSqo 11/30/11 4:53 PM |
| phylogenomics Vest: analog of Tip ONeil's "all politics is local" need outreach to get people locally to understand importance of research universities 11/30/11 5:03 PM |
| phylogenomics Questioner asks Vest how to best export notion of democracy/ access 11/30/11 5:09 PM |
| phylogenomics Vest in response to question expresses dismay at how anyone could support the "Dream Act" http://t.co/FpwekBzu 11/30/11 5:09 PM |
(NOTE - I GOT THIS WRONG SOMEHOW - HE CLEARLY SEEMS LIKE THE TYPE WHO WOULD SUPPORT THE ACT). SEE OTHER POSTS ...)
 | lukedones @phylogenomics Dismay that anyone would *support* the DREAM Act? Why? 11/30/11 5:12 PM |
| phylogenomics @lukedones do you mean why would anyone be dismayed that some support the act? 11/30/11 5:15 PM |
| lukedones @phylogenomics Yes. Just wondering whether he gave a reason. 11/30/11 5:21 PM |
| phylogenomics @lukedones not that I remember 11/30/11 5:21 PM |
| phylogenomics @lukedones sorry - in looking at the Dream Act I am wondering if he misspoke and meant he supported it ... no longer sure what he said 11/30/11 6:24 PM |
 | VoteBothell @phylogenomics why no support for Dream Act? 11/30/11 7:01 PM |
| phylogenomics Sorry all; MAJOR error tweeting Charles Vest talk; I wrote he was against Dream Act; I think he/I got that backwards & must be for it 11/30/11 7:19 PM |
| phylogenomics @VoteBothell sorry - I think he must be for it - so either he or I got it backwards 11/30/11 7:20 PM |
| VoteBothell @phylogenomics Great, got it. Enjoy your tweets. I've been following you since the pepper spray. My support and thoughts are with UC Davis. 11/30/11 7:22 PM |
| lukedones @phylogenomics Thanks - I expected an academic would be for the Dream Act. 11/30/11 7:26 PM |
| phylogenomics Vest: we need more experimentation with how research is funded to try to find other ways 11/30/11 5:21 PM |
| phylogenomics Vest: should keep systems at basic science agencies but should try new approaches like ARPA-E 11/30/11 5:22 PM |
| phylogenomics Vest views Open Courseware as a new form of publication not really as "classes" per se, b/c not interactive 11/30/11 5:25 PM |
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