Hello my lovely readers!
April was such a busy month, I can actually hardly believe it’s over already! It’s always a busy month for me at work, as I help organize and run an annual event on-campus. In addition this month, we also welcomed a new program to our campus, so the library was very busy putting in the groundwork for supporting students studying that new subject area. I also submitted my first-ever poster abstract. So busy! On top of this, the weekend of my work event was the same weekend as the first motorcycle race weekend of the season for my partner. He was incredibly busy prepping for the races. Instead of just the normal getting everything running again after the long winter, he also was prepping a new (to him) race bike to be track ready. Since I couldn’t go with him for the first race weekend, I wanted to send along something nice, so I made him a pie and cookies for carb-loading at the track. I honestly found the baking to be stress-relieving and really enjoyed it. I’m happy to report both the work event and the first race weekend went well!
In spite of the busyness, we were able to squeeze in quite a few hangouts with friends and dates for ourselves. One of our dates was to hike a local trail on Easter Sunday. It was gorgeous weather in a month of a lot of iffy weather. I always find it so refreshing to get outside and in the woods, and even more so with my boyfriend. We saw lots of jack-in-the-pulpits and also got a great view of Boston.
My stitching slowed down a bit this month, although I did release the first design in a new line–rhubarb in foraging New England. The rest of the patterns for the line are designed but they still need to be trial-stitched! I hope to release at least one of them this month.
I read and reviewed four books this month, sticking to my overall goal of one book a week. I’ll be happy if I manage to stick to that during my upcoming even busier month of May! In my own writing, I’m still working away whenever I have the time on my new book idea, writing background short stories. The typewriter my bf got me for Christmas is coming in really handy, freeing me of distractions.
The final plenary, and indeed, the final non-CE class or tour event of MLA13 Boston, was on my list of events to blog for the official conference blog. I summed up the entire presentation. As stated previously, I can’t reproduce those posts here on my personal blog, so please go over and take a look at that summary before reading my responses to and thoughts on the presentation.
Got it? Good!
Ok, so, what was my reaction to this lecture? Well, first, honestly I had a bit of a panic. I felt frightened, unsafe, and like the world is doomed. At first I thought that was just my anxious-prone self over-reacting to the presentation, but after discussing it with friends and colleagues who were also there, I realized that Garrett seems to have actually sought to pull out this fear in people.
In a presentation that ends with pleas for us to fight fear and panic, why did she spend so much time investing in frightening us and very little (if any) spent in reassuring us? Why focus so much on pandemics just a single mistake away, germ warfare close at hand (although, not really since 3D printing of germs isn’t happening yet). I don’t know. I don’t know what would make Garrett think making people feel this way is a good thing. Maybe she’s fallen prey to the idea that the only way to get people to pay attention to your cause is to frighten them. I know people in various movements who use that tactic. It’s not one I’m a fan of. Maybe she didn’t intend to gloom and doom the people present. But I think she did. Given that her own speech pointed out the dangers of panic and unwarranted fear, I find it odd that this was her intent. And yet there you have it. A room full of frightened librarians. Think I’m exaggerating? Check out just a few of the tweets from during her presentation:
Everyone has their own style, and I certainly learned a lot from the presentation and wasn’t bored. But. I’m not a fan of nonfiction presentations (aka not horror plays or movies) inciting fear and panic in the audience. I think it’s counter-productive when talking to a room full of intelligent, educated individuals. Librarians aren’t 5 year olds who need to be told about icky germs in order to get us to wash our hands. I’m sure there could have been a way to give this presentation with truths and realities that could be frightening without actually inciting this level of anxiety. Even just a little positivity and more hope for the future would have been nice. You don’t want a populace that is exerting all their energy preparing for Armageddon.
I should also mention that I stood up to ask a question of Garrett at the end. With all the talk of synthetic biology, I wanted to know what her opinion was on GMOs. I admit, this is not an issue I am yet clear-cut on myself. I generally prefer organic, but I also understand the value of say rice that has been modified to have more vitamins in it for an at-risk population. But on the other hand I get the concern of manipulating something at a genetic level and what that might do to our own bodies when we ingest it. It’s something that just doesn’t have enough long-term studies yet to really show if it’s truly safe or not, and it concerns me that it’s mostly the poor, at-risk populations who are being used as guinea pigs eating it.
In any case, I asked Garrett at the public microphone about her stance on GMO foods and the movement to label them. Given all of her doom and gloom talk about synthetic viruses, I was shocked at her answer. She believes that GMO foods are necessary because as more of the world becomes middle class, more of the world is eating meat, and meat eating just cannot be sustained on the land we currently have available, so we must turn to eating synthetic foods.
Um, EXCUSE ME?!?!
So the lady who just spent over an hour and a half talking about how dangerous synthetic biology could turn out to be turns right around and says that meat eating isn’t sustainable to feed the entire globe (which it isn’t, see this article in the American Journal of Clinical Nutrition) turns right around and says that well we have to eat GMOs to feed everyone because people won’t just give up meat. Right, ok, if someone is so concerned about the possible bad consequences of synthetic biology don’t you think she might possibly take this opportunity to espouse a vegetarian, vegan, or even just more plant-based diet to combat the global food crisis instead of relying exclusively on GMOs? Apparently not. Apparently it’s really great to fear-monger about pandemics and international relations but when it comes to what we eat, the basis of much of our health, that’s too controversial.
Well, at least it was an interesting final couple of hours of MLA13, although I can’t say I really feel that it was very useful to librarians or working to promote true global health.
At the meeting, librarians present their papers that were accepted to the conference. These are organized into groups of four sponsored by one of the MLA’s sections. The presentations are timed so that you can see the first presentation in one section then go to another section to see the second, etc… I wasn’t able to take notes at all of the section programming I listened to, because some of the rooms looked like this when I switched into them:
International Congress on Medical Librarianship 2: Trustworthy and Authoritative Publicly Available Information Section
“Trustworthiness and Authoritativeness of YouTube Videos on Smokeless Tobacco” by Donghua Tao, Prajakta Adsul, Ricardo Wray, Keri Jupka, Carolyn Semar, and Kathryn Goggins
- Use online media as a tool to educate health care users
- a future study could use a survey of real YouTube users and test their hypothesis
- Methodology of published papers doesn’t discuss how they searched YouTube
- See how videos connect to each other (videos referencing other videos)
- 3,603 unique videos brought up, randomly sampled 433, of which 278 were used based on inclusion criteria
“Twenty Years of the Cochrane Collaboration: A Legacy of Trustworthy and Authoritative Publicly Available Information and Plans for the Future” by Carol Lefebvre, Julie Glanville, Jessie McGowan AHIP, Alison Weightman, and Bernadette Coles
- 2013 is Cochrane’s 20th anniversary, and they have a special anniversary website.
- Cochrane Collaboration crates the Cochrane Library
- plain long summaries, free, multiple languages
- 4 million downloads in 2010
- 6 million downloads in 2012
- New publishing agreement with Wiley
- February 1, 2013 to the end of 2018
- gold open access –> author pays a publication fee then article is available immediately
- green open access –> no author payment but there is a 1 year embargo
- impact of Cochrane Reviews
- We’re not here to decide if we publish clinical data but how
- 20 years ago:
- only 20,000 RCTs indexed in medline
- no RCT filter in medline
- new MeSH term for quasi-RCT: Controlled Clinical Trial
- 1996 Central launched
- medline’s retagging project supports Central
- proliferation of search filters
- Cochrane Handbook has grown
- registration of clinical trials
- move toward single portals
- increased access to clinical study reports
- PubReMiner will increase use
- text mining increase
- strengthen relationship with other organizations
- challenge will still lie in discoverability
Federal Libraries Section: The Role of Librarians in Evidence-Based Medicine: Part One
“Telling the Research Story: A Role for Librarians in Analyzing Research Impact Based on Evidence” by Terrie Wheeler and Cathy C. Sarli AHIP
- Genesis project (Not really sure what this is. Had trouble seeing the slides and hearing).
- citation analysis
- “It is no longer enough to measure what we can–we need to measure what matters.”
- Found a lot of gray literature using Google
- use clean data –> clear linkage
- explanation of the h-index
- explanation of the g-index
- explanation of the tapered h-index
- all index factors have one limitation or another
- can we produce future science with publication data? Maybe.
That’s all of my notes I managed to get. I’ll have to figure out how to better juggle notebooks/pens next year. Or maybe MLA can get us more seating. Up next, the National Library of Medicine’s Update.
Most of my readers know that, in addition to being a book blogger and indie author, I also have a day job as a librarian for the academic library that serves a Boston-area medical school and and teaching hospital. Since this is my day job, I’m a member of the Medial Library Association (MLA) and every year we have a conference that my institution graciously sends me to. Last year it was in Seattle. This year it was in my home city of Boston. Last year I blogged quite a bit of the conference information here both to share it and to help me remember what I learned. You can see the series of posts starting with this one in May of 2012. This year since I had a year of conferencing under my belt, I applied to be an official conference blogger, and I got the position. Yay! I was assigned to write 2 to 3 posts about the plenary sessions. So this year I will still be posting some information from the conference here on my own blog, but I will also be linking out to the official conference blog, as I am not supposed to reproduce my posts for that blog on my own personal blog. I also will be providing additional commentary on those plenaries on my own blog, though, so they will also be discussed here.
The first event I went to was the grand opening of the exhibit halls on Saturday night after I got off of work. I only was there for around 45 minutes, due to my work schedule, so I didn’t get to see even half of the exhibits. Ah well! It was still a fun start to the conference.
The next morning was when the ball really got rolling with the first plenary session. The first plenary introduces the theme of the conference and features the address by the current MLA president. You can see my summary of it on the official blog here.
While was excite about the international aspect of MLA this year (the meeting was held in conjunction with the International Conference on Medical Librarianship (ICML), the International Conference of Animal Health Information Specialists (ICAHIS), and the International Clinical Librarian Conference (ICLC) ), I was disappointed by the lack of content in the presidential address. I’m not a big fan of “think positive” as a general message to begin with, but it also felt that Blumenthal really didn’t offer much practical advice from her extensive real world library experience to the rest of us. I missed the enthusiasm of 2011/12 president Jerry Perry’s speech.
Stay tuned for notes from the 2nd plenary by Dr. Richard Besser, medical correspondent for ABC and one-time acting director of the CDC.
I recently went to a town meeting on Open Access (OA) and our Institutional Repository (IR). (Universities and colleges have our own town meetings, because we’re basically our own mini-towns). This meeting spurred me on to do a bit of a blog post on OA and IRs. I’ll first give a brief explanation of OA and IRs, including links to some resources for more information, and wrap up with my own thoughts.
OA is the concept and movement within academia that access to academic literature should be free online and free of most copyright restrictions. The idea is that for knowledge to flourish the exchange of ideas should be as free and fluid as possible. Because this is a concept and movement this means that not everyone agrees with this idea. Agreement and support of OA also varies drastically by area of specialty. The sciences are the most supportive of OA, particularly Physics. This is evident by the existence of the website arXiv.org, which provides “open access to 792,606 e-prints in Physics, Mathematics, Computer Science, Quantitative Biology, Quantitative Finance and Statistics.” The humanities are less so. This has to do with the culture of the different disciplines. The sciences are more focused on teamwork and sharing new knowledge as quickly as possible, whereas the humanities tend to be more concerned with ruminating on ideas. The pace is simply faster in the sciences than in the humanities, and OA is more useful in that environment.
Utilizing and supporting OA comes across in a few different ways. There are OA journals, which are free to use, but not necessarily free to submit an article to. To those concerned, the submission fee does not guarantee acceptance of an article. It is simply there to help the OA journals function. Studies on the percentage of OA journals charging a fee vary rather widely on their final numbers. These fees are of concern to faculty members, though, because they can quickly go through grant money that could have been used in other ways just paying submission fees. Although there originally was concern as to the quality of OA journals, OA does not negate peer-review. There are many peer-reviewed and respected journals; the PLOS ones in particular spring to mind, but you can see a listing of all OA journals at the Directory of Open Access Journals. Academics can support OA both by submitting to and reading OA journals, and institutions can support OA by giving articles published in OA journals equal consideration when doing tenure reviews.
OA can be pursued in traditional publishing as well, however. Frequently faculty members do not fully understand what is happening with their copyright when they sign contracts with a publisher. The creator owns the copyright of an item at the moment of creation. He or she does not need to register it. This is not always clear to people because from 1923 to 1963 (in the US) you did have to register your copyright and re-register it every 28 years. Anything published before 1923 in the US is officially in the public domain aka free of copyright. This is why mashups such as Pride and Prejudice and Zombies can happen. What all this means is that the author of the paper owns copyright until they sign it over to the publisher, and they do not have to kowtow to all of the demands of the publisher. OA advocates encourage authors to return the contract to the publisher unsigned with a SPARC Addendum attached. This addendum gives the publisher some rights over the paper/article/book while retaining some for the author. What this essentially means is that the author retains certain rights over his or her article that most faculty members think they have anyway. Only now it’s legal. For instance, this addendum gives the author permission to deposit their paper in an Institutional Repository or include it in a group of pdfs of publications on their personal website, as long as it is properly cited to the journal of first publication.
A popular way for publishers to support OA while still staying in business, beyond agreeing to SPARC Addendums, is the concept of an embargo. An embargo means that articles are available exclusively through subscription and fees for a set period of time (usually from 6 months to 2 years), and after that point they are available through OA. The qualm some advocates of OA have with this model is that for certain fields of study, particularly in the sciences, the embargo period is long enough that the article will be practically irrelevant by the time it is available openly, thereby defeating the whole purpose of encouraging collaboration and free flow of ideas behind OA to begin with.
So what do Institutional Repositories (IRs) have to do with OA? An IR is a curated collection of all academic publishing, as well as collections such as photographs taken by anthropologists, created by scholars associated with the institution. The IR is the institution’s research portfolio. It’s important for the institution to be able to demonstrate to interested parties the valuable work their scholars are doing. The connection to OA is that the current restrictive copyright contracts publishers send to authors frequently make it impossible to include their works in the IR. The SPARC Addendum addresses this, but an institution can also address this concern by making it a mandate that all scholarly work done while at their institution be deposited in the repository. This gives the author a prior commitment that is usually already covered in the contract. A pioneer in the world of IRs is MIT’s IR: DSpace. Check them out to get a feel for what an IR is like.
So what do I think about all of this? I can understand and sympathize with all three sides (universities, scholars, and publishers). The publishers are concerned that they will go out of business if everything is available immediately in OA. As an indie author, I can easily see how valid that concern is. Frankly if OA does take off the way, say, literary zines have, most journals will go out of business. Yes a few big name zines are still surviving, and most zines also sell a print version and do alright with that, but publishing as we know it must change for OA to take hold. Of course one doesn’t want that in one’s own industry.
I can also understand the dual view scholars hold. Academic journals are peer-reviewed, and while OA journals can be, they aren’t necessarily. OA can seem like a scary free-for-all with no verification of facts or quality. Things don’t always become popular because they’re good. But on the other hand if your audience is other scholars, aka the peer part of peer-review, then it should work itself out anyway. Not to mention the fact that OA journals can mandate peer-review if they want to. Similarly, I get it that scholars usually want to share their work with anyone interested and to that end want to post the pdfs on their website. The problem is, though, if a person can get your article just by googling it and going to you instead of the publisher then we’re right back to putting the publisher who published you in the first place out of business. But if publishing changes the way we think it will, then that would be a moot point anyway.
As far as IRs go, I truly see their value for gray literature. Things like posters from poster sessions, dissertations and theses that are frequently not available or searchable otherwise, etc… but I also think an institution obsessively collecting a copy of everything every scholar has done is a bit redundant. Not that the institution shouldn’t ever broaden to that level of collection and archiving, but since IRs are so new, it might be better to focus in on the gray literature for now.
Overall though the change won’t really happen until institutions start accepting OA publications in the tenure process. Until that point all scholars must publish in traditional journals in order to secure tenure. It seems to me that the power is really in the hands of the universities. The universities must decide: what do we want true scholarship and academic achievement look like in the 21st century?
In January of this year (2012) the Association of Research Libraries (ARL) published what most academic and medical librarians now know of as “the code.” Within copyright there’s an allowance known as fair use. Since this is a gray area, the ARL interviewed hundred of librarians and came up with a code of best practices in fair use so that all academic librarians can put up a united front against the publishers who basically way too frequently think that there is no such thing as fair use. I had the opportunity to attend two of the panels presenting the new code and information on fair use. One was at MIT and the other was at Northeastern University. This post will consist of my notes as well as links to the code’s website, guides, and contact info.
What is the Purpose of Copyright?
- To promote the creation of culture by giving people who create it a perk with limited monopoly and encouraging new makers to use existing culture. The human process of creating culture is collaborative at its base.
Biggest Balancing Feature:
- Fair Use–legal, unauthorized use of copyrighted material–under some circumstances
So what is fair use?
- a space for creativity
- for lawyers
- for users
- for judges
- created in the 1840s by judges but not in writing til 1976
Four Factors of Fair Use
- Reason for the use
- Kind of work used
- Amount used → is it appropriate?
- Effect on the market
The Good News
- Judges love it and love using the factors
- Supreme Court: fair use protects free speech
- Judicial interpretation has shifted greatly since 1990
Things Judges Ask
- Is your use transformative?
- Are you adding to the culture
- Are you an innovator
- Did you use the amount that is appropriate to satisfy the transformative use
- use of works in scholarly study when they’re not intended for scholarly study
- PLUS custom and practice of individual creative communities especially when well-documented
- When judges hear a good story about why what you’re doing as a community is transformative, they want to side with you
Best Practices Codes
- Communities that use them:
- documentary filmmakers
- online video
- dance productions
- principles not rules
- limitations not bans
- reasoning not rote
Why Fair Use Matters to Librarians
- Libraries preserve culture. To keep them alive means copying especially digital.
- Patrons need answers now.
- Can libraries stay relevant to the future by serving patrons from a distance?
- Projects/needs that seem important aren’t getting done or are being abandoned because of risk aversion (fear of getting sued).
- Put legal risks into perspective “mission risk.”
The Code of Best Practices
“Nobody really wants to sue. They just want to scare you.”
“Fair use is like a muscle.”
The more people who expressly go forward with fair use, the more protection we all have.
It is fair to provide access to teaching materials (digitally) for students and professors.
- Spontaneity is not the law. You can reuse course reserves (repeated use).
- The 1976 Guidelines are not the law.
- If you’re not in the class, you don’t get access. Passwords.
- Are you making a good faith effort to limit the use to fair use?
- There’s a difference between access and distribution.
- Exhibits both physical and virtual
- Digitizing to preserve at-risk items, but only when you can’t buy it and it is in a format that is becoming outdated but not yet obsolete.
- Digital collections of archives and special collections
- Access to research and teaching materials for disabled users.
- Institutional repositories, for example dissertations, theses
Writers of dissertations/theses have a right to deposit their work in the repository without getting copyright rights from those whose work they’ve quoted/cited. This code aims to help libraries stand by authors and help places like ProQuest understand fair use.
- Data-mining/Finding aids.
- When you google, you’re not searching the internet. You’re searching google’s copy of the internet. This is legal under fair use.
- Making topically-based collections of Web-based material.
- You’re collecting for a particular reason for a different use than the original creators had.
- Libraries are not liable for bad things that their users do.
- Get your counsel involved when things aren’t in crisis mode. It will help them understand you and your needs for potential future crises.
- Bring the code of best practices to the counsel as a conversation piece.
- Reliance on code of best practices is good evidence of good faith.
- Librarians need to own fair use reasoning and get students and professors to do it too.
- This is a free speech right. We need to empower patrons and move them to agency.
- A library can avoid or reduce liabilities by having proactive staff. Develop fair use practice standards in your community.
- You can create your own culture that doesn’t view fair use as risky.
- In the context of fair use, the perfect document with all the answers is unattainable.
- Key questions to ask:
- Is it appropriate?
- Is it reasonable?
- Are you using it in good faith?
- It is not the case that by asking for permission you waive your fair use rights.
- Sometimes asking for permission can even strengthen your fair use claim.
- Checklists make rote something that is inherently fluid. Instead you should simply be able to articulate if asked why it is an appropriate use.
- We should be able to explain fair use to our people in plain language. No legalese.
- Classroom Guidelines created in the 1970s were intended as a floor but interpreted as a ceiling. 1990s cases against coursepacks found coursepacks aren’t fair use, so now they pay a use fee. Code of Best Practices is the first to look at it from a library perspective.
- What happened at GSU?
What was at issue was not the software (ie Blackboard) but the amount of info on Electronic Reserves.
- Publisher’s argument:
* should have sought and paid permission for every item on Electronic Reserves
* argued fair use checklist is weighted to fair use
* GSU could have subscribed to annual access
- Library’s argument:
* use of excerpt from books in this setting is fair use
* checklist properly used
* If GSU had an annual license from CCC, Cambridge University Press is not part of it anyway.
- So how much is fair use?
- CCC is contractually obligated to let publishers know if they think an infringement is going on.
- If you’re arguing market impact, you have to show it.
- 75 cases were submitted, of those only 5 instances of infringement found.
- Court declined to issue injunction and ordered plaintiff to pay defendent’s legal fees.
- Is the use transformative?
* using it in a new way
* the obvious exception is straight reproduction for classroom use
* the things that teachers use to teach are not usually created with the intention to use to teach, so this use is innately transformative.
* non-transformative use is 10 to 20%
* transformative use can be the whole thing.
* Textbooks are not transformative (made for teaching) so less fair use leeway.
- The actual damages to the publisher was $750
- Licenses “must be easily accessible, reasonably priced, and that they offer excerpts in a reasonable format.”
- “We’re creating a situation where fair use will disappear if we don’t use it.”
- The lawsuit is really just about scholarly nonfiction books.
- This case isn’t precedent for anyone but GSU.
You can find much more information, including contact info for the panelists, on the Code of Best Practices in Fair Use website.
The Neuroscience of Autism and Learning Disabilities (Science Librarian Boot Camp 2012 Tufts University)
Instead of inundating you with my notes from yet another professional development session, I decided to select out my favorite part to share with you all. Out of everything I did in the Science Librarian Boot Camp, I enjoyed the Neuroscience presentations the most. So, here they are. Enjoy!
“Genetics of Neurodevelopmental Disorders,” Dr. Anthony Moncao, Tufts University
- Genetics studies Genes. Neurodevelopment studies Proteins and Regulatory DNA. Imagining studies the Brain. Psychiatry studies Behavior.
- Genes aren’t determinative. They interact with the environment.
- There is very strong evidence that genetic factors increase risk.
- Susceptibility genes–genes that with environmental factors increase risk for these diseases
- How do we find susceptibility genes?
- Identify a chromosomal translocator and neurodevelopmental disorder.
- Copy number variants –> Deletion or addition/duplication of material. We all have these in some variation but in some instances they hit important areas. They are inherited or de novo (neither parent had it).
- What is “strict” Autism?
- Impairment in: verbal and nonverbal communication, reciprocal social interaction, repetitive and stereotyped patterns of interest (don’t ilke change)
- Onset before 3 years
- male to female ratio: 4 to 1
- Autism Spectrum includes Asperger Syndrome, PDD-NOS (removed from DSM5)
- Autism Spectrum has a combined incidence of about 1%
- 5% of Autism Spectrum disorders are comorbid with Fragile X, Tuberous Sclerosis, Down’s, muscular dystrophy, and other Mandelian disorders.
- What are the genetic factors in Autism?
- heritability is about 85 to 92%
- rate among siblings is 3 to 9%
- It is one of the most strongly genetic of childhood-onset psychiatric disorders.
- No evidence yet for genes with variants in all forms of Autism.
- Hardly any two autistic kids are gonna be the same (genetically).
- Many of these genes are important in synapses.
- Cadherin 8 (CDH8) is probably the culprit in these microdeletions.
- Variable expressivity –> a deleted gene can cause multiple different outcomes (autsim, learning disorder, etc…) so evidence is strong environment is a factor
- Future prospects include: Cohorts, sequencing, translation, use of rare CNVs diagnostically, genetic counseling, early intervention for sibs, CNVs may help us predict the outcome.
- Projected future difficulties include: CNVs are common, so we have to be sure the one we’re calling Autism really is. Ethical issues of testing children before they have any symptoms.
- Autism has very complex etiology.
- Collaboration is important to make progress.
- Specific Language Impairment.
- Just as frequent as dyslexia/autism.
- It is a difficulty acquiring expressive and/or receptive language despite adequate intelligence and no physical problems (ie deafness). Problems in producing and comprehending speech, problems reading, normal nonverbal IQs.
- It has an almost 100% heritability.
- Inheritance is simple but complex phenotype.
- The damaged gene –> FOXP2
- A transcription factor.
- Important in how the rest of the gene is regulated. Kind of like a master switch.
- Not the gene for speech (found in nonverbal species but important in vocalizations. Mice won’t squeak properly. Songbirds can’t learn songs if it is damaged.)
- FOXP2 inhibits CNTNAP2 from being expressed (Sitting on it and not letting it make RNA).
- Where is FOXP2 expressed in the brain? In the basal ganglia, phallus, cerebellum (motor centers).
- Chimps are more similar to mice than humans in this gene.
- FOXP2 is a regulatory gene. Its downstream targets offer entrypoints into neural pathways involved in speech and language.
- Developmental Dyslexia.
- It is a diagnosis of exclusion.
- 5% of schoolchildren have it.
- Males are 3 to 4 times more effected than females.
- Gene variant is two times as frequent in dyslexics as in controls.
- Variants in KIAA0319 repress the expression of the gene.
- These variants increase risk in reading problems in the general population.
- May inhibit migration of neurons to the right are of the cortex.
- ectopia–small bundles of neurons in the wrong area of the cortex
- 4 dyslexia susceptibility genes have been found so far.
- All 4 play a role in neuronal migration and/or axonal growth.
- DNA is not determinative. There are many other factors involved.
“Neuroimaging of Children’s Brains,” Dr. Jean Frazier, UMass Med
- Goal: To explore how neuroimaging techniques provide insight into potential biomarkers for childhood onset neuropsychiatric disorders.
- Basic principles of brain development: structures start small, get big, then get small again
- 8 to 14 is an important age range.
- They exuberate then prune, and it is the pruning that is important.
- The more complicated a process is the more potential it could go awry.
- Pruning is guided by “use it or lose it.”
- The exact timing varies by structure.
- birth to 3–time of rapid intellectual, emotional, and physical growth of brain and brain wiring
- by age 6–95% of brain development completed
- 8 to 13–2nd major brain growth spurt
- 13 to 20s–pruning to organizing, especially in frontal cortex.
- We can measure things that require energy using: PET, SPECT, fMRI, EEG, MEG
- What MRI can tell us: structure, metabolites, blood flow, connectivity
- MRS–noninvasive, analytic method to measure chemicals within body parts
- If we are going to fully appreciate what is going wrong in brains, we have to fully understand what is going right in brains.
- Whereas gray matter gets pruned, white matter increases.
- Less gray matter, brain becomes more efficient.
- But what happens in atypical development?
- More blood flow in amygdala of depressed and anxious.
- amygdala–governs ability to modulate our affect
- Bipolars have abnormal connectivity in brain, especially in areas dealing with affect regulation and attentional capacity.
- Application to Autism?
- Recommends “Localization of white matter volume increase in autism and developmental language disorder” in Annals of Neurology by Herbert et al
- Children with autism have more white matter.
- Tracks most severely affected in Autism are growing/changing just after birth.
- Biomarkers are a distinct characteristic that is an indicator of a particular biological condition or process.
- Maybe the genetic risk factors are indicators of the dysfunction not the disorder.
- Both schizophrenia and autism symptom is social withdrawal.
- 1 in 54 boys and 1 in 252 girls (1 in 88 children) have Autism Spectrum, according to study from 2008
- Inhibition of GABA and excitation of Glutamate are associated with autism.
- Tuberous make too little of a certain protein. Fragile X makes too much.
- Glutamate levels are higher in Autism.
- Biomarkers could be used as predictors for treatment response.