Understanding current gene therapy research

August 2, 2012 5:22 AM

How can I learn enough about biology and genetics to understand current research into cystic fibrosis?

My son was diagnosed with cystic fibrosis (CF) when he was four weeks old. We have a great team at a regional NHS hospital who are helpful and supportive. He's nearly one and is doing really well so far.

My knowledge of biology and genetics is pretty poor and I'd like to improve it to the level where I can understand the current research (at least at a high level) - for example, the CF Trust's UK clinical trials. I'm specifically interested in gene therapy as this seems to be the potential big step forward for treating these kinds of conditions. I had a basic course in mixed science at GCSE (age 14-16) which included biology but I recall very little.

I don't have time for a full time or part time formal course, but is there a set of tutorials or exercises which I can work through on my own time?

posted by Stark to education (14 answers total)

With limited time I would focus on the genetic science; get a primer in genetics / genomics, or just gene therapy and consult or refer to biology references as needed.

Unfortunately the latest texts are often quite pricey. It's difficult / potentially harmful to recommend one where the science is over 10 years out of date but you can get earlier versions much cheaper e.g. 2002 copy of Essentials of Medical Genomics for under 20 USD. It is supposed to have a good chapter on gene therapy.

I haven't evaluated this site, I'm on my phone, but it might also be good background more specific to CF.

I'm just a guy with googley fingers who had a cousin with CF in the 70s and early 80s and much has changed. Someone smarter will come along with better resources I'm sure!
posted by safetyfork at 6:13 AM on August 2, 2012

Taking a peek through those trials, what you are looking for to be able to understand the comcepts involved is Molecular Genetics and Cell Biology, and both of those topics are generally taught assuming that you already have a decent understanding of things like the structure function relationship of DNA and the Central Dogma, both of which will also be really helpful.

I'd start here at Introduction to Biology MIT 2005

Also, if you are ever in Belgium with some time, I designed a course pretty much exactly along these lines for some undergrads in my old lab and I am always willing to teach in exchange for food.
posted by Blasdelb at 6:23 AM on August 2, 2012

Not sure if these will get you to to the level to understand the trials but I always had my students do something with the University of Utah's website generally starting with the tour of basics but it looks like that first link also has some info on gene therapy. In general, I suggest looking whatever terms you understand/don't understand and adding "animation". When I looked up "gene therapy animation" this nice little website popped up. I haven't used it but PBS has good genetics/heredity games/animations/information for students so, hey... go for it. Additionally, Oak Ridge Lab has some info and the Nobel Prize site has some educational games that may help you. Keep an eye on the websites that go with college texts - many of them of bits that are free. McGraw-Hill especially has lots of online resources out there.... though you sort of have to wade through what's there to find what you need. The links I listed above are ones that I'd likely use or have used with my students. I'm not exactly sure of your starting point so I hope something will be useful.

I know you said no partial courses but scan iTunes U and Ted (no idea what's out there but worth looking )for speakers on gene therapy. It may give you more/better idea of what you do and don't understand. Also, look for a used AP Bio text or used college bio text to get enough general info and great diagrams to help you understand the basics. Also, I suggest getting a subscription (online or paper) to Discover or Scientific American or something similar - they often have articles that would probably be easy enough for you - a determined learner - to get through but would still have info you want - not just the high level stuff.
posted by adorap0621 at 6:24 AM on August 2, 2012 [1 favorite]

In terms of textbook choices, more introductory texts will be fine to be about 10 years old, but not really older than that. However, even the newest advanced texts will already be out of date so you'd want to be careful with texts like that Essentials of Medical Genomics book. They would be useful, but it would be important to keep in mind that large hunks would be wrong or incomplete.
posted by Blasdelb at 6:28 AM on August 2, 2012

The place to start is The Cartoon Guide to Genetics. I'm not kidding; it's excellent.

There isn't anything in it that's specific to CF, but it will give you a good basic grounding on how it all works.
posted by Chocolate Pickle at 7:07 AM on August 2, 2012

Search for anatomy and physiology animations online. The link I had to a huge library of such things is dead but here is one that I just googled up which might be good: Linky

Also seconding the cartoon guide. All of the cartoon guides are excellent.
posted by Michele in California at 7:45 AM on August 2, 2012

I would not start by trying to bootstrap a working knowledge of genetics and cell biology -- those are huge fields which get very confusing out at their cutting edges, even for people who work in them every day. Learning more about them is an admirable goal but if all you want is to be able to read articles about cystic fibrosis research and understand them (rather than be able to usefully critique them or contribute to further research in that area) then I would go from the opposite direction.

I would start by trying a couple of articles that deal with the stuff that you're interested in. Perhaps ask your son's doctor if he/she can get you a copy of a couple of the most important cystic-fibrosis papers to come out in the last couple of years, and then sit down with them over some coffee and try to give them a close reading. Take your time; it will be slow going. Whenever you come on a word or a concept that you don't understand, Google it. Read enough about that that you feel like you have a grip on it, and then go a little farther into the article you are reading. Don't worry about trying to go through it start-to-finish, it's OK to jump back and re-read paragraphs for better understanding. It may also take several sessions to get through an article, especially at first.

By the time you've really worked through a couple of articles, you'll probably have a much better understanding of the state of current cystic fibrosis research. After that, you'll likely have some idea of what direction you want to go from there. Do you want to understand how the authors of these cutting-edge articles got to where they are? Look through the references section of the articles and see whose shoulders they are standing on. Do you want to hear more about what's going on in that field as a whole? Find out who they've collaborated with in the past and see what those people have published recently.

I must emphasize that this will not be a substitute for actual study in these fields, and that it's not going to prepare you to conduct your own research or even necessarily improve your ability to choose the course of your son's treatment -- some of the things you read about may be less relevant than they seem, or may not be as promising as they seem from the paper, and many articles will have a very narrow scope that while important for furthering general research in the field does not in and of itself create better treatments or anything. It won't necessarily be totally obvious to you what is what. However, you will at least be able to read the research and know what's happening, what's being worked on, and maybe get a sense of what direction the field is going in as far as new treatment strategies.
posted by Scientist at 7:48 AM on August 2, 2012 [2 favorites]

I will add that with being very open about my diagnosis of CF and asking questions on public forums, I sometimes have had folks with PHD's in chemistry or biology kindly email me and explain complex cellular stuff in laymen's terms. Then I do what Scientist suggested and look up any words I don't know and reword what they have said and ask if I am understanding them correctly. This has been awesome.

Plus one person with a PHD told me that abstracts usually don't say the same thing as the actual paper. So I stopped bothering to try to read the abstracts that were routinely posted to one CF list. Read the original paper if you want to know. Don't base anything on an abstract. That info saved me a lot of wasted time, effort and frustration.
posted by Michele in California at 8:05 AM on August 2, 2012

You may also seek out a genetic counselor attached to your son's treatment team. Their job is to do just what your are asking, provide information about genetics, the specific genetic condition you or your family member has and what the related treatments, etc. are. They can be a great sounding board and can point you to relevant literature that would be helpful for your specific questions.
posted by goggie at 8:22 AM on August 2, 2012

Along the lines of what Scientist and Michele are suggesting, if you post any papers you want help interpreting or questions you might have to this thread, I for one would be happy to give a random molecular biologist's go at them.

That said, the more foundational knowledge you build the easier it will be. The online course I linked to above is 36 part series of 45 minute lectures that would do a lot to provide context around explinations that would get. Of particular use would be 1-15 and 21-35.
posted by Blasdelb at 8:34 AM on August 2, 2012

I endorse Scientist's approach.

I recently spent a bunch of time reading review articles to familiarize myself with my father-in-law's cancer. I had the benefit of getting a BA in Biology 20 years ago. The things I learned from text books and lectures two decades ago helped, but what I learned back then that helped most was learning that if I read enough unfathomable papers enough times things started to make sense.

Before doing that though, it is probably worth understanding the basics of genetics and molecular biology:

• The human body is made of cells.
• Cells are made of proteins, lipids and carbohydrates, along with water, dissolved minerals, and traces of various compounds.
• Proteins called enzymes help produce lipids, carbohydrates, and other proteins.
• The cellular machinery for making proteins works from instructions encoded in mRNA.
• mRNA is transcribed from genes.
• Genes are sequences of DNA in the cell's nucleus.
• The DNA in the nucleus is organized into chromosomes.
• Each human cell has two copies of each chromosome, and therefore has two copies of each gene.
• A child gets one set of chromosomes from its mother, and the other set from its father.
• Sometimes genes have a mistake, and the proteins made from them don't work properly.
• Often a defect in one copy of a gene is compensated for by having a good copy from the other parent, but sometimes a child gets defective copies from both parents.
• Cystic Fibrosis is caused by a defect in a gene that makes a protein that controls the flow of chloride ions across certain cell membranes.
• Gene therapy seeks to insert a working version of the gene into cells.

That may not all make sense at this point, but it should give you enough structure to get started. Google is your friend!

I also did a search and found a recent review article about Cystic Fibrosis and genetic therapy for CF.

Best of luck to you and your family!
posted by Good Brain at 12:38 AM on August 3, 2012 [1 favorite]

As the spouse and advocate for somebody with CF, I recommend you go to the patient forums. We don't have time to become pulmonologists. There, knowledge is being spread and democratized rapidly. People on learning on the fly and helping others learn on the fly (like AskMe). My two go-to forums are CysticLife and CysticFibrosis.com. Sign up for email updates from the (US-centric, but it's where the pharma/treatment development is happening) Cystic Fibrosis Foundation. That's where you hear about the big discoveries. (Which may take awhile to be approved, but we're able to access them through clinical trials here.)

My spouse is in the hospital right now; the fear is sometimes impossible -- I know how hard it is. Memail me any time.
posted by sweltering at 7:24 AM on August 3, 2012

A couple of links I had that still work:

Membrane transport The CFTR is a channel that handles trafficking of certain molecules across the cell membrane (into and out of the cell). Th video covers thst general process well.

Cell Biology Animation
This site covers a number of things.
posted by Michele in California at 8:03 AM on August 3, 2012

I'm a little late to the game, but I've been meaning to check back in and recommend the videos from Khan Academy. I don't have a direct experience with their biology videos, but the physics/astronomy ones I've looked at are accurate and good.

Good luck to you and your family!
posted by Betelgeuse at 10:16 AM on August 3, 2012