UCSF Simons VIP

Congratulations to Dr. Julia Owen and her collaborators for their publication in the April Journal of Neuroscience. Her work includes data from patients with 16p11.2 deletions and control participants
who participated here at UCSF. The first of many upcoming publications from our effort-- the result of the tremendous contributions from all our participating families.

http://www.jneurosci.org/content/34/18/6214.abstract

Aberrant White Matter Microstructure in Children with 16p11.2 Deletions Author contributions: J.E.S., W.K.C., R.L.B., T.P.L.R., S.S.N., E.H.S., and P.M. designed research; J.P.O., Y.S.C., N.J.P., P.B., M.L.J.W., E.J.M., J.I.B., and P.M. performed research; J.P.O., N.J.P., P.B., M.L.J.W., E.J.M., E.H.S., and P.M. contributed unpublished reagents/analytic tools; J.P.O., Y…

Check out Dr. Wendy Chung, Primary Investigator of the Simons VIP, giving a TED talk last month about the current state of Autism research.

http://www.ted.com/talks/wendy_chung_autism_what_we_know_and_what_we_don_t_know_yet

Autism — what we know (and what we don’t know yet) In this calm and factual talk, geneticist Wendy Chung shares what we know about autism spectrum disorder — for example, that autism has multiple, perhaps interlocking, causes. Looking beyond the worry and concern that can surround a diagnosis, Chung and her team look at what we’ve learned through st…

Exciting results from our functional neuroimaging portion of the project, presented at the annual Society for Neuroscience Meeting that took place in San Diego a few weeks ago:

http://sfari.org/news-and-opinion/news/2013/close-look-at-autism-linked-region-reveals-complex-biology

Close look at autism-linked region reveals complex biology — SFARI.org - Simons Foundation... Having too many or too few copies of a gene, or a chromosomal region, would presumably have opposite effects on the body. But that’s not always the case, new research suggests.

Many of our 16p families have provided blood samples for this preliminary work. See this article for the full story!

http://sfari.org/news-and-opinion/conference-news/2013/society-for-neuroscience-2013/results-of-16p11.2-study-show-promise-for-autism-biomarker

Results of 16p11.2 study show promise for autism biomarker — SFARI.org - Simons Foundation... Come together: Abnormalities in a signaling pathway link deletion of the 16p11.2 chromosomal region to a set of rare and little-know

Sunday's SF chronicle discusses Epilepsy work being completed by Dr Sherr and collaborators at UCSF and Duke:


http://www.sfgate.com/default/article/New-ground-broken-in-epilepsy-research-4724105.php -1

New ground broken in epilepsy research The largest genetic study of children with certain debilitating types of epilepsy has uncovered dozens of mutations associated with the disease and two genes that have never before been linked to epilepsy, opening new avenues of research into potential treatments. The results - published Sunday in t...

Our sister study site was on the news!
Great explanation of some of the research that our study is doing.

For those of you who did the MEG scan, they are talking about results from the task with the beeps and the vowels! Exciting stuff.


http://www.nbcphiladelphia.com/news/health/Autism-Breakthrough-MEG-CHOP-163905396.html

Autism Brain Study at CHOP Doctors at the Children's Hospital of Philadelphia are using a new cutting-edge way of looking at the brain to see what they can learn about autism.

U.S. World and Weekly Report has featured an exciting new finding published by Dr. Dorothy Jones-Davis and colleagues at UCSF and the National Institute of Mental Health.

Another fascinating breakthrough coming from the Sherr Lab and collaborators!


http://www.usnews.com/news/articles/2013/04/15/study-autism-has-strong-genetic-link-in-mice

Study: Autism Has Strong Genetic Link in Mice Autistic behavior linked to specific locations on mouse genome.

Ground breaking work from our very own post-doc Julia Owens, and principal investigators Pratik Mukherjee and Elliott Sherr! Also doing this work for the Simons VIP study.

Connecting the Dots: Mapping the Brain in a Common Form of Autism Mapping the brain is emerging as the new frontier in science, and unlocking its mysteries promises to deliver fundamental new insights into human cognition a...

Check out our new Simons VIP webinar with Dr. Sherr, the imaging principal investigator here at UCSF!

In this short webinar, Dr. Sherr discusses Functional Magnetic Resonance Imaging (fMRI), how it works and how it can be used to help us better understand brain structure and function!

Functional Magnetic Resonance Imaging (fMRI)

Check out this newest publication from the Simons VIP team and collaborators in the Journal of Medical Genetics: A 600 kb deletion syndrome at 16p11.2 leads to
energy imbalance and neuropsychiatric disorders

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3494011/

Many of you may have had the pleasure of meeting our fantastic site neurologist, Dr. Elysa Marco. Check out this highlight from UCSF Children's Hospital:


http://www.ucsfbenioffchildrens.org/doctors_and_clinics/features/elysa_marco/

Doctor Q&A: Elysa Marco | UCSF Benioff Children's Hospital Dr. Elysa Marco is a behavioral child neurologist who specializes in autism spectrum disorders. In addition to treating her young patients, Marco also serves as director of research for the UCSF Autism and Neurology Center. She completed her medical training at the UCSF School of Medicine, where she...