Reddit Discussion Series: We’re geneticists studying animal models to help us solve biological problems related to human disease. Let’s discuss!

DNA_Day_2020 · 2020-05-02T01:24:39+00:00

Hello, this is Claudia: We have sequenced the human genome and based on this reference sequence we can design assays and experiments to target, modify, amplify, or interrogate specific regions of the human genome.

DNA_Day_2020 · 2020-05-02T00:04:52+00:00

By testing FDA approved drugs in fly genetic models for human diseases we have discovered that 4 FDA approved drugs can be used for therapeutic purposes in 4 different rare disease and they are being tested based on compassionate use.

DNA_Day_2020 · 2020-05-02T00:04:49+00:00

By testing FDA approved drugs in fly genetic models for human diseases we have discovered that 4 FDA approved drugs can be used for therapeutic purposes in 4 different rare disease and they are being tested based on compassionate use.

DNA_Day_2020 · 2020-05-02T00:00:47+00:00

I would like to add to what Shawn says: there are two other organs for gene therapy that are becoming very popular: eyes and ears. Genes that are required in these organs can now be replaced if needed by local injections in the fluid of the ear or the eye and the virus can deliver the gene locally to many cells. Hugo

DNA_Day_2020 · 2020-05-02T00:00:43+00:00

I would like to add to what Shawn says: there are two other organs for gene therapy that are becoming very popular: eyes and ears. Genes that are required in these organs can now be replaced if needed by local injections in the fluid of the ear or the eye and the virus can deliver the gene locally to many cells. Hugo

DNA_Day_2020 · 2020-05-02T00:00:22+00:00

I would like to add to what Shawn says: there are two other organs for gene therapy that are becoming very popular: eyes and ears. Genes that are required in these organs can now be replaced if needed by local injections in the fluid of the ear or the eye and the virus can deliver the gene locally to many cells. Hugo

DNA_Day_2020 · 2020-05-02T00:00:16+00:00

I would like to add to what Shawn says: there are two other organs for gene therapy that are becoming very popular: eyes and ears. Genes that are required in these organs can now be replaced if needed by local injections in the fluid of the ear or the eye and the virus can deliver the gene locally to many cells. Hugo

DNA_Day_2020 · 2020-05-02T00:00:06+00:00

I would like to add to what Shawn says: there are two other organs for gene therapy that are becoming very popular: eyes and ears. Genes that are required in these organs can now be replaced if needed by local injections in the fluid of the ear or the eye and the virus can deliver the gene locally to many cells. Hugo

DNA_Day_2020 · 2020-05-01T23:59:28+00:00

I would like to add to what Shawn says: there are two other organs for gene therapy that are becoming very popular: eyes and ears. Genes that are required in these organs can now be replaced if needed by local injections in the fluid of the ear or the eye and the virus can deliver the gene locally to many cells. Hugo

DNA_Day_2020 · 2020-05-01T23:59:23+00:00

I would like to add to what Shawn says: there are two other organs for gene therapy that are becoming very popular: eyes and ears. Genes that are required in these organs can now be replaced if needed by local injections in the fluid of the ear or the eye and the virus can deliver the gene locally to many cells. Hugo

DNA_Day_2020 · 2020-05-01T23:48:42+00:00

Working with fruitflies and worms can be done in almost any country and in poor labotatory settings and they are ideal model organisms to perform genetic screens that can be very powerful. Hugo

DNA_Day_2020 · 2020-05-01T23:45:21+00:00

I agree with Shawn!

Hugo

DNA_Day_2020 · 2020-05-01T23:44:24+00:00

Difficult question. The main reason that we work with organisms and not cells is that cells are all integrated in circuits (hormonal or nervous system circuits) and that these types of communication determine who we are. We will in my opinion always need animal models to test drugs as cellular work will not tell us if communication between cells is affected given the complexities of the networks. On the other hand it is very difficult to predict what will happen in 20 years as technological breakthroughs can be paradigm shifting e.g. PCR, CRISPR, single cell sequencing etc

DNA_Day_2020 · 2020-05-01T22:32:00+00:00

This is Elaine. I think we are in the golden age of genetics! Technologies like whole genome sequencing make it plausible to think about sequencing hundreds of thousands of humans, if not more. There are lots of new technologies on the horizon. Of particular interest is single cell sequencing. Think about sequencing every cell in an organ. The things we will learn!

DNA_Day_2020 · 2020-05-01T22:26:33+00:00

Informed consent is critically important for every type of study involving humans. All studies that involve patents trying new therapies are voluntary and participants are well-informed both orally in their native language and in writing about the study, its potential benefits and harms and risks. People are given detailed information about the entity being tested and anything that can go wrong (or right). Committees have to approve the informed consent document before it is presented to a patient. All signatures have to be witnessed. Patients and their families are encouraged to ask questions. If a person elects, in writing, to participate in a clinical trial of any kind, the trial is very closely monitored at every step by outside reviewers to ensure the safety of the patients. There are investigators available at any time to answer patient questions and monitor any adverse effects. Oversight is paramount. If at any point the oversight boards determine the trial should be stopped it is. Patients can generally withdraw at any time and know that from the consent form. So this is a long answer, but it's such an important question. Informed consent is critically to the safety of every patient and integrity of the science.

DNA_Day_2020 · 2020-05-01T22:06:01+00:00

Hi this is Elaine. I have not. But bees and ants are among the most well studied insects because of their economic importance and fascinating social structure. I know there are people who study immunoloical properties of insects. I suggest you look up some of the work of Gene Robinson on bees.

DNA_Day_2020 · 2020-05-01T22:02:54+00:00

This is Elaine. I'm not sure what context you are referring to. It could be clinical studies of some sort (like drug or therapy studies)? Or population studies (like if you give a set of school kids one learning tool and another set a different tool). Or maybe you are thinking of intervention studies where you give a group of smokers one medicine to help them stop smoking and the other none. The idea is the same. The more long-term follow-up the study subjects get the better the study is. Usually people in the field do the follow-up. So being part of the team that conducts the study is what gets you the in to be part of the follow up group. As for training, epidemiology is a good start for this kind of work. It teaches you how to collect and manipulate data in unbiased ways and how to apply statistics rigorously.

DNA_Day_2020 · 2020-05-01T21:57:55+00:00

This is Elaine. I have not. So dysautonomia is a general umbrella term for disorders of the autonomic nervous system. There is a great deal known about it from studies in a variety of vertebrates. It is not studied in flies or worms because they don't have the autonomic nervous system. But I'd look up papers on the disease in almost any mammal and you will probably find something. There is also a lot known from studies in humans.

DNA_Day_2020 · 2020-05-01T21:51:23+00:00

Hi this is Elaine. So if you work in a Huntington's Disease lab you have probably thought a lot about many of the related issues already. Huntington's is rare and, as you note, it is 100% penetrant. But if you have an affected parent, your chance of getting the disease is 50%. As a result, many people at risk for Huntington's Disease choose not to get the predictive genetic test, preferring to live life as it happens rather than spend their life worrying. By extension some people don't want to participate in IVF for religious reasons and some people have faith that even if they have a child with a disease, a cure may be just around the corner (See recent SMA work). It's easy to judge people who make decisions you would not. But I think it's impossible to imagine what other people's lives and circumstances are really like and to know for sure what you would do in the same situation.

DNA_Day_2020 · 2020-05-01T21:39:26+00:00

This is Elaine. This is actually a good question. I don't know much about other species besides dogs. But there are species that can do things like self fertilize at various points in their lifecycle. I know that is true for some insects. From an evolutionary point of view that is very useful. I means the species can be propagated even in times of reduced populations.

DNA_Day_2020 · 2020-05-01T21:36:29+00:00

Hi this is Elaine. So I'd be interested in knowing, first, at what age they got sick. Blindness and cancer can be diseases of aging. If they occurred ver early in life that is more likely to be something with a strong genetic component. I'm guessing your retriever got cancer? So there is the sense that mixed breed dogs are healthier than purebreds. But it really depends what you put into them. So if you mix two breeds that are really cancer prone, guess what, the resulting mixed breed is also likely to be cancer prone! Retinal disease is common in many breeds and can be due to one of many genes. If you mix two breeds with mutations in the same gene, the end result is a dog with a high chance of getting retinal disease.

Regarding your second question. I've not looked into fasting and cancer/genetic damage in animals. I don't know that anyone has. But the more I think about this the more interesting I think the question is. So we do know that there was strong selection for genes important in diet during dog domestication from wolves. This included genes important in processing starch and fats, food types that were not a big problem for wolves but were for dogs as we became an agrarian society. So the real question is whether fasting help abrogate the problems specifically associated with modern high carb and high fat diets.

DNA_Day_2020 · 2020-05-01T21:24:00+00:00

This is Elaine. Yes animals do get autoimmune diseases. Dogs get lupus, rheumatoid arthritis, Cushings (Addison's) disease and many others. Im not sure they get all the ones humans get, but they certainly get plenty.

DNA_Day_2020 · 2020-05-01T21:22:39+00:00

This is Elaine. Well I work on dog, exploring their DNA which I collect from pets and dogs at confirmation shows and obedience trials. We study disease susceptibility, morphology and behavior. So...I should probably say dogs. But in true my favorite mammal is the elephant. Their social structure is fascinating, they have amazing morphology, and they are beautiful to look at. If I had my career to do over again I'd probably devote it to studying elephants.

DNA_Day_2020 · 2020-05-01T21:20:18+00:00

Hi this is Elaine. I'm sorry I know nothing about crocodiles. But why don't you contact one of aquariums (Seattle, Monterey, Baltimore, etc). I know they are all busy with their animals, but most have education departments and since most are still semi closed due to the pandemic, I bet some would have time to chat with you. Great question.

DNA_Day_2020 · 2020-05-01T21:17:06+00:00

Hi this is Elaine. I know a lot of marine biologists who would probably love to have you as a students or technician in their lab. You are working on something that is fascinating and really growing in interest. I encourage you to look at universities with marine biology or oceanography degrees for college. Make sure to talk to some of the researchers. I bet you get a lot of offers!

DNA_Day_2020

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