1 00:00:00,330 --> 00:00:01,163 [Instructor] All right, this is 2 00:00:01,163 --> 00:00:03,600 the last lecture in the last module, 3 00:00:03,600 --> 00:00:06,600 the first and last lecture in the last module. 4 00:00:06,600 --> 00:00:08,910 So first, let's think about wellness. 5 00:00:08,910 --> 00:00:12,360 Now, this topic is particularly interesting to me, 6 00:00:12,360 --> 00:00:13,950 because it's actually looking at things 7 00:00:13,950 --> 00:00:15,390 from quite a different perspective. 8 00:00:15,390 --> 00:00:17,880 Instead of the disease-oriented perspective, 9 00:00:17,880 --> 00:00:21,930 looking at different interventions that people can take 10 00:00:21,930 --> 00:00:24,900 for their own wellness and the impact that might have 11 00:00:24,900 --> 00:00:26,673 from a genetic perspective. 12 00:00:27,720 --> 00:00:28,800 So there's several studies 13 00:00:28,800 --> 00:00:31,830 on the genetic and genomic effects of meditation. 14 00:00:31,830 --> 00:00:36,570 So here, mental wellness and providing focus. 15 00:00:36,570 --> 00:00:40,140 There are many studies on the health benefits of meditation 16 00:00:40,140 --> 00:00:43,260 and the reduction in stress that comes along with that. 17 00:00:43,260 --> 00:00:46,470 But in addition, researchers have also looked at 18 00:00:46,470 --> 00:00:49,020 the genetic impact from a couple of different angles, 19 00:00:49,020 --> 00:00:50,310 and have found, 20 00:00:50,310 --> 00:00:52,028 there actually are several studies, 21 00:00:52,028 --> 00:00:54,330 several fairly large studies, 22 00:00:54,330 --> 00:00:57,060 that have looked at the effects of meditation 23 00:00:57,060 --> 00:00:59,160 on different aspects of genetics. 24 00:00:59,160 --> 00:01:01,890 In particular, one study that came out, 25 00:01:01,890 --> 00:01:03,210 actually I think it came out, 26 00:01:03,210 --> 00:01:04,610 yeah, it came out this year, 27 00:01:06,180 --> 00:01:07,770 really recent study that came out 28 00:01:07,770 --> 00:01:10,860 looking at breast cancer survivors 29 00:01:10,860 --> 00:01:15,860 and assessing their cells for changes 30 00:01:17,580 --> 00:01:21,450 in a measure of chromosome stability, 31 00:01:21,450 --> 00:01:22,920 which is telomere length. 32 00:01:22,920 --> 00:01:25,380 And if you remember from way, way back 33 00:01:25,380 --> 00:01:26,970 towards the beginning of the semester 34 00:01:26,970 --> 00:01:29,910 when we were talking about the anatomy of a chromosome, 35 00:01:29,910 --> 00:01:32,310 the very end caps, the very ends, 36 00:01:32,310 --> 00:01:34,530 the tips of the chromosomes are the telomeres. 37 00:01:34,530 --> 00:01:36,810 These are specific structures that are designed 38 00:01:36,810 --> 00:01:39,000 to like cap the ends of the chromosome 39 00:01:39,000 --> 00:01:41,070 and to keep them nice and compacted. 40 00:01:41,070 --> 00:01:44,400 It's sort of like the analogy 41 00:01:44,400 --> 00:01:46,680 of the little piece of plastic cap 42 00:01:46,680 --> 00:01:47,880 on the end of shoe laces 43 00:01:47,880 --> 00:01:50,340 that keeps the shoe laces from unraveling. 44 00:01:50,340 --> 00:01:52,230 That's sort of like what a telomere does. 45 00:01:52,230 --> 00:01:55,020 It basically caps off the end of the chromosome 46 00:01:55,020 --> 00:01:58,200 to kinda keep it all condensed and nicely-formed. 47 00:01:58,200 --> 00:02:01,503 Through time and with age, 48 00:02:03,731 --> 00:02:05,370 the telomeres for all of us start to shorten. 49 00:02:05,370 --> 00:02:06,720 Each time the cell divides, 50 00:02:06,720 --> 00:02:08,673 the telomere gets a little bit shorter. 51 00:02:09,690 --> 00:02:11,370 Well, what they found was that 52 00:02:11,370 --> 00:02:13,710 there was improved telomere stability 53 00:02:13,710 --> 00:02:18,180 in the patients that went to the part of the trial 54 00:02:18,180 --> 00:02:20,340 where they were undergoing meditation, 55 00:02:20,340 --> 00:02:23,880 compared with those who just sort of sat quietly 56 00:02:23,880 --> 00:02:25,140 or did a quiet activity, 57 00:02:25,140 --> 00:02:26,790 but not actually engage in meditation 58 00:02:26,790 --> 00:02:28,470 for the same amount of time. 59 00:02:28,470 --> 00:02:29,610 When they compared them, 60 00:02:29,610 --> 00:02:32,700 those who meditated had improved telomere stability, 61 00:02:32,700 --> 00:02:35,490 which leads to improved chromosome stability, 62 00:02:35,490 --> 00:02:40,200 which as we know is important to reducing cancer risk 63 00:02:40,200 --> 00:02:43,860 and reducing overall damage to the cell. 64 00:02:43,860 --> 00:02:45,210 So that's an interesting study. 65 00:02:45,210 --> 00:02:49,320 Another study looked at epigenetic changes 66 00:02:49,320 --> 00:02:53,490 in peripheral blood mononucleocyte cells, 67 00:02:53,490 --> 00:02:58,350 and so they took blood sample from folks who had, 68 00:02:58,350 --> 00:03:01,250 I think similarly either just been sort of sitting quietly 69 00:03:01,250 --> 00:03:05,190 or engaging in activities of their choice quietly, 70 00:03:05,190 --> 00:03:09,090 compared to folks who were meditating 71 00:03:09,090 --> 00:03:11,430 for a certain amount of time. 72 00:03:11,430 --> 00:03:14,490 And what they found was that they noticed 73 00:03:14,490 --> 00:03:17,100 a difference in epigenetic modifications, 74 00:03:17,100 --> 00:03:21,120 specifically in pro-inflammatory genes. 75 00:03:21,120 --> 00:03:25,470 So those genes that code for proteins that would induce 76 00:03:25,470 --> 00:03:29,040 or enhance inflammation throughout the body. 77 00:03:29,040 --> 00:03:32,610 And so basically what the epigenetic changes 78 00:03:32,610 --> 00:03:35,340 were associated with reducing expression of those genes. 79 00:03:35,340 --> 00:03:40,340 So it would be like cooling down inflammatory response, 80 00:03:40,345 --> 00:03:44,250 that as we know from actually 81 00:03:44,250 --> 00:03:46,590 many different disease states 82 00:03:46,590 --> 00:03:49,080 are associated with inflammation 83 00:03:49,080 --> 00:03:50,970 or worsened by inflammation. 84 00:03:50,970 --> 00:03:54,030 So reducing the inflammation response in the body 85 00:03:54,030 --> 00:03:56,580 is actually very likely to be quite beneficial 86 00:03:56,580 --> 00:03:58,770 for a number of different conditions. 87 00:03:58,770 --> 00:04:02,100 So that's an interesting tidbit that came out. 88 00:04:02,100 --> 00:04:05,280 Another was actually looking at DNA methylation 89 00:04:05,280 --> 00:04:09,750 and gene expression in fat cells 90 00:04:09,750 --> 00:04:14,160 in individuals who either led a sedentary life 91 00:04:14,160 --> 00:04:18,510 and were randomized to either continue a sedentary life, 92 00:04:18,510 --> 00:04:20,730 and compared those individuals to folks 93 00:04:20,730 --> 00:04:22,350 who lead sedentary lives 94 00:04:22,350 --> 00:04:24,900 and then started an exercise program. 95 00:04:24,900 --> 00:04:26,400 And they compared the fat cells 96 00:04:26,400 --> 00:04:28,320 of those two different groups. 97 00:04:28,320 --> 00:04:30,420 And what they found was that in folks 98 00:04:30,420 --> 00:04:33,420 who started an exercise regimen, 99 00:04:33,420 --> 00:04:35,700 a regular aerobic exercise regimen, 100 00:04:35,700 --> 00:04:40,120 that they identified over 7,000 genes in the fat cells 101 00:04:41,520 --> 00:04:45,300 whose DNA methylation and gene expression was affected. 102 00:04:45,300 --> 00:04:48,780 And many of those genes are known to play a role in obesity 103 00:04:48,780 --> 00:04:50,450 and Type 2 diabetes risk, 104 00:04:50,450 --> 00:04:52,470 there's been some association there. 105 00:04:52,470 --> 00:04:56,010 So what is this actually telling us? 106 00:04:56,010 --> 00:04:58,740 Well, we already know exercise is good for you. 107 00:04:58,740 --> 00:05:02,400 Exercise reduces Type 2 diabetes and reduces obesity. 108 00:05:02,400 --> 00:05:04,290 But now maybe we're starting to understand 109 00:05:04,290 --> 00:05:07,900 why that's the case, and we can start to see that 110 00:05:08,790 --> 00:05:13,410 this really direct correlation between lifestyle, 111 00:05:13,410 --> 00:05:16,620 exercise, even meditation, as we talked about before, 112 00:05:16,620 --> 00:05:18,840 and the end gene expression, 113 00:05:18,840 --> 00:05:20,400 what's going on inside your cells 114 00:05:20,400 --> 00:05:23,220 from a genetic perspective. 115 00:05:23,220 --> 00:05:25,320 So I find this to be really quite fascinating 116 00:05:25,320 --> 00:05:30,320 and an interesting twist on the old belief 117 00:05:30,510 --> 00:05:33,240 that, you know, your genetics are your genetics 118 00:05:33,240 --> 00:05:36,090 and you get what you get at birth, or at conception, rather, 119 00:05:36,090 --> 00:05:39,090 and, you know, that's the hand you're dealt. 120 00:05:39,090 --> 00:05:41,160 Well, what we're actually seeing is that 121 00:05:41,160 --> 00:05:42,810 there's a lot more adaptability, 122 00:05:42,810 --> 00:05:44,460 a lot more flexibility in that. 123 00:05:44,460 --> 00:05:47,970 And we're starting to better understand why the lifestyle 124 00:05:47,970 --> 00:05:51,318 and behavior choices that we know to be beneficial, 125 00:05:51,318 --> 00:05:55,770 why that's actually the case from a molecular level. 126 00:05:55,770 --> 00:06:00,600 So that's some tidbits from the wellness side of things. 127 00:06:00,600 --> 00:06:03,123 I have a few articles and, 128 00:06:04,020 --> 00:06:05,610 you know, popular press articles 129 00:06:05,610 --> 00:06:09,000 and some research articles posted if you're interested. 130 00:06:09,000 --> 00:06:10,410 All of this is of course optional 131 00:06:10,410 --> 00:06:12,000 in the reading section this week. 132 00:06:12,000 --> 00:06:13,710 It's more of a resource folder. 133 00:06:13,710 --> 00:06:15,180 So, if it's something you want to 134 00:06:15,180 --> 00:06:17,370 dive into a little bit more, it's there for you. 135 00:06:17,370 --> 00:06:20,583 Feel free to use that. 136 00:06:21,480 --> 00:06:24,565 Okay, well those were the topics that I had 137 00:06:24,565 --> 00:06:28,530 to give you just a little bit about. 138 00:06:28,530 --> 00:06:31,770 Now, I'm gonna walk you through some helpful resources, 139 00:06:31,770 --> 00:06:34,980 at least helpful for me that I've used in the past 140 00:06:34,980 --> 00:06:39,690 and used currently that you might like 141 00:06:39,690 --> 00:06:41,610 or might like to use on occasion. 142 00:06:41,610 --> 00:06:44,430 And this would be in addition to, 143 00:06:44,430 --> 00:06:45,840 these are the additional resources 144 00:06:45,840 --> 00:06:48,030 other than ones I've shown you 145 00:06:48,030 --> 00:06:49,830 and that we've used throughout the course, 146 00:06:49,830 --> 00:06:53,340 like Genetics Home Reference and, you know, the EGAP, 147 00:06:53,340 --> 00:06:54,900 and all the other ones that we've talked about. 148 00:06:54,900 --> 00:06:56,280 So here's just a couple more. 149 00:06:56,280 --> 00:06:59,400 One is Online Mendelian Inheritance in Man. 150 00:06:59,400 --> 00:07:03,120 Since that is a mouthful we call it OMIM, for short. 151 00:07:03,120 --> 00:07:06,670 And this is like a clinical geneticist go-to resource 152 00:07:07,590 --> 00:07:09,720 to search human genes and phenotypes. 153 00:07:09,720 --> 00:07:11,430 And they give a lot of technical details. 154 00:07:11,430 --> 00:07:15,183 I'm gonna see if I can go to the site and show you. 155 00:07:18,120 --> 00:07:23,120 Okay, so this is OMIM, and it's indexed on the NCBI site. 156 00:07:25,080 --> 00:07:26,790 So this is the same place where you would go 157 00:07:26,790 --> 00:07:29,250 for PubMed if you were looking for 158 00:07:29,250 --> 00:07:32,730 a primary research article, for example. 159 00:07:32,730 --> 00:07:35,130 But you can just use the link that I provided you 160 00:07:35,130 --> 00:07:36,750 or you can do a Google search for OMIM. 161 00:07:36,750 --> 00:07:40,560 I think it comes up as the first or second hit from that. 162 00:07:40,560 --> 00:07:43,930 So here you can type in a disease 163 00:07:46,650 --> 00:07:48,600 or a gene that you might be interested in. 164 00:07:48,600 --> 00:07:49,920 Let's say that you're interested in 165 00:07:49,920 --> 00:07:54,600 looking at cystic fibrosis. 166 00:07:54,600 --> 00:07:56,010 Let's search for that. 167 00:07:56,010 --> 00:07:59,220 Okay, so this gets really pretty technical, 168 00:07:59,220 --> 00:08:02,190 and I think it's a great resource to use, 169 00:08:02,190 --> 00:08:03,600 fantastic resource to use, 170 00:08:03,600 --> 00:08:07,713 but it is not terribly user friendly. 171 00:08:08,640 --> 00:08:12,600 And you know, you'll get a lot of results for things, 172 00:08:12,600 --> 00:08:14,280 and it's gonna take some time to kinda search through them 173 00:08:14,280 --> 00:08:16,110 and figure out what it is you're looking for. 174 00:08:16,110 --> 00:08:18,240 So the more specific you can be in your search, 175 00:08:18,240 --> 00:08:21,240 the better you'll end up doing with it. 176 00:08:21,240 --> 00:08:24,990 But let's look, let's see if we can even find something. 177 00:08:24,990 --> 00:08:27,660 Okay, here's, so way down here is the actual disease. 178 00:08:27,660 --> 00:08:31,080 So, this is why it's a little bit more complicated 179 00:08:31,080 --> 00:08:33,150 to use than, say, Genetics Home Reference, 180 00:08:33,150 --> 00:08:35,310 but let's just click on it. 181 00:08:35,310 --> 00:08:37,110 And so you can see this is the disease. 182 00:08:37,110 --> 00:08:39,600 So cystic fibrosis. 183 00:08:39,600 --> 00:08:42,340 And it's going, you can see on the right-hand side 184 00:08:43,380 --> 00:08:44,400 there's a Table of Contents. 185 00:08:44,400 --> 00:08:46,800 So if you're looking for something in particular, 186 00:08:46,800 --> 00:08:49,890 let's say you want to know the pattern of inheritance 187 00:08:49,890 --> 00:08:50,970 and the mode of inheritance, 188 00:08:50,970 --> 00:08:52,560 you can just click on Inheritance, 189 00:08:52,560 --> 00:08:54,450 and it'll bring it up for you. 190 00:08:54,450 --> 00:08:56,910 There's a lot that's, I mean, cystic fibrosis, 191 00:08:56,910 --> 00:08:58,050 there's a lot known about it, 192 00:08:58,050 --> 00:08:59,490 so there's gonna be a lot here. 193 00:08:59,490 --> 00:09:01,650 But for each disease, 194 00:09:01,650 --> 00:09:03,660 it's going to have a lot of information. 195 00:09:03,660 --> 00:09:05,010 GeneReviews. 196 00:09:05,010 --> 00:09:07,773 Okay, here, this looks a little strange, 197 00:09:08,730 --> 00:09:10,770 because it looks like it's a book. 198 00:09:10,770 --> 00:09:12,600 It is, I guess, technically a book, 199 00:09:12,600 --> 00:09:15,510 but it's curated and updated online, 200 00:09:15,510 --> 00:09:20,430 and it's fully available, free to use. 201 00:09:20,430 --> 00:09:24,030 It's updated regularly by clinical geneticists. 202 00:09:24,030 --> 00:09:25,710 It's a great resource. 203 00:09:25,710 --> 00:09:28,920 So, let's try the same thing here. 204 00:09:28,920 --> 00:09:31,233 So let's try cystic fibrosis again. 205 00:09:34,380 --> 00:09:36,930 Okay, if you click on the, 206 00:09:36,930 --> 00:09:40,230 it'll give you a bunch of options here. 207 00:09:40,230 --> 00:09:42,480 Some are more specific articles. 208 00:09:42,480 --> 00:09:45,510 But if we just want, say, 209 00:09:45,510 --> 00:09:47,940 like the review of cystic fibrosis 210 00:09:47,940 --> 00:09:49,950 and all the information that they have on it, 211 00:09:49,950 --> 00:09:53,310 we would click on the GeneReviews tab for that, 212 00:09:53,310 --> 00:09:54,450 that came up. 213 00:09:54,450 --> 00:09:57,930 And here now we are within GeneReviews, 214 00:09:57,930 --> 00:10:01,800 and we could select what we're interested in. 215 00:10:01,800 --> 00:10:05,463 This is actually Cystic Fibrosis-Related Disorders, 216 00:10:06,450 --> 00:10:09,840 and this is gonna give you some definitions, 217 00:10:09,840 --> 00:10:11,400 diagnosis, and testing. 218 00:10:11,400 --> 00:10:13,620 This is very clinically oriented, 219 00:10:13,620 --> 00:10:16,950 so it's GeneReviews primarily oriented 220 00:10:16,950 --> 00:10:21,870 for health professionals to use to understand 221 00:10:21,870 --> 00:10:24,803 and to kind of have one place to go for 222 00:10:24,803 --> 00:10:27,420 everything you see here on the right-hand side, 223 00:10:27,420 --> 00:10:29,580 Diagnosis, Clinical Characteristics, 224 00:10:29,580 --> 00:10:31,530 Differential Diagnosis, Management, 225 00:10:31,530 --> 00:10:33,420 Genetic Counseling. 226 00:10:33,420 --> 00:10:35,820 Some of it gets really, really detailed, again, 227 00:10:35,820 --> 00:10:38,070 but I find that GeneReviews 228 00:10:38,070 --> 00:10:41,520 is actually more readable than OMIM. (laughing) 229 00:10:41,520 --> 00:10:43,530 So, if you are looking to dive in deeper, 230 00:10:43,530 --> 00:10:46,080 maybe start with GeneReviews, and then go to... 231 00:10:46,080 --> 00:10:49,740 Okay, the sequence of events that I normally take is 232 00:10:49,740 --> 00:10:51,360 actually Genetics Home Reference number one, 233 00:10:51,360 --> 00:10:54,090 so I have a sense of what it is I'm looking at. 234 00:10:54,090 --> 00:10:57,300 Then I go to GeneReviews, then I go to OMIM, 235 00:10:57,300 --> 00:11:01,620 because it gets increasingly more dense with each of those, 236 00:11:01,620 --> 00:11:03,810 and more informative. 237 00:11:03,810 --> 00:11:08,400 But if your answer can be found in Genetics Home Reference, 238 00:11:08,400 --> 00:11:11,040 then I'd say start there, 239 00:11:11,040 --> 00:11:13,920 so you can save yourself the time of reading through 240 00:11:13,920 --> 00:11:18,390 what can be a lot of information from these other resources. 241 00:11:18,390 --> 00:11:21,240 Okay, so that's GeneReviews. 242 00:11:21,240 --> 00:11:23,752 Another one, this is actually 243 00:11:23,752 --> 00:11:26,490 a weekly updated site from the CDC. 244 00:11:26,490 --> 00:11:28,470 So it's kind of like news and updates 245 00:11:28,470 --> 00:11:30,150 from the clinical side of things 246 00:11:30,150 --> 00:11:32,960 on genomics and genetics and... 247 00:11:34,680 --> 00:11:37,200 All right, and then another one is PharmGKB, 248 00:11:37,200 --> 00:11:39,990 which is The Pharmacogenomics Knowledge Database, 249 00:11:39,990 --> 00:11:43,080 which is what PharmGKB stands for. 250 00:11:43,080 --> 00:11:44,250 This one's an interesting one. 251 00:11:44,250 --> 00:11:49,196 If you do a search, let's say you want to, 252 00:11:49,196 --> 00:11:51,090 you know, you can do a search number of different ways. 253 00:11:51,090 --> 00:11:54,750 You can go to the search tab at the top 254 00:11:54,750 --> 00:11:56,820 and actually tell that you wanna search 255 00:11:56,820 --> 00:11:59,790 by Genes, Drugs, Diseases, or Pathways. 256 00:11:59,790 --> 00:12:02,730 Or you can type into the search bar at the top. 257 00:12:02,730 --> 00:12:05,373 Let's say we are curious about warfarin. 258 00:12:06,840 --> 00:12:08,430 All right, let's select warfarin. 259 00:12:08,430 --> 00:12:10,380 Let's see what information they have on that. 260 00:12:10,380 --> 00:12:15,380 Probably a lot, because there's a lot known about warfarin. 261 00:12:15,450 --> 00:12:20,450 So this will give you some dosing guidelines, 262 00:12:21,570 --> 00:12:24,270 and you can click into that and read more. 263 00:12:24,270 --> 00:12:25,620 They update it regularly. 264 00:12:25,620 --> 00:12:28,680 So as new information comes out, as new guidelines come out, 265 00:12:28,680 --> 00:12:30,603 it will be updated as such. 266 00:12:31,650 --> 00:12:36,210 Okay, and in addition to that, you can see Drug Label, 267 00:12:36,210 --> 00:12:38,960 which can be really helpful to... 268 00:12:39,870 --> 00:12:44,870 This is the FDA label, and you can click on that, 269 00:12:45,360 --> 00:12:47,600 and it will bring up... 270 00:12:49,380 --> 00:12:50,490 Oh, here it is. 271 00:12:50,490 --> 00:12:52,230 It'll show you the actual label 272 00:12:52,230 --> 00:12:54,933 and the specifics around that. 273 00:12:57,030 --> 00:12:58,440 That's Clinical. 274 00:12:58,440 --> 00:13:02,250 You can also look in their Research tabs. 275 00:13:02,250 --> 00:13:04,680 So across the top here, you can look through 276 00:13:04,680 --> 00:13:05,610 all the different tabs. 277 00:13:05,610 --> 00:13:07,110 Clinical's probably gonna be most relevant, 278 00:13:07,110 --> 00:13:10,860 but then there's also research that is out there 279 00:13:10,860 --> 00:13:13,410 and that they've annotated here. 280 00:13:13,410 --> 00:13:15,540 Overviews that you can search through. 281 00:13:15,540 --> 00:13:17,310 Properties, mechanism of action, 282 00:13:17,310 --> 00:13:21,060 Pathways, which can be, you know, can be interesting, 283 00:13:21,060 --> 00:13:23,670 but it gets really into the details 284 00:13:23,670 --> 00:13:26,010 of how these drugs are working. 285 00:13:26,010 --> 00:13:31,010 So, all right, so those are the resources that I use, 286 00:13:31,470 --> 00:13:34,560 in addition to the ones we've already talked about. 287 00:13:34,560 --> 00:13:36,600 It seems like many of you have found others, 288 00:13:36,600 --> 00:13:39,379 and hopefully, you know, you kinda compile those together, 289 00:13:39,379 --> 00:13:42,180 and you'll have that ready to go for the second part 290 00:13:42,180 --> 00:13:47,180 of the final paper, just the briefly annotated list 291 00:13:47,580 --> 00:13:49,110 of helpful resources. 292 00:13:49,110 --> 00:13:50,820 Okay, genetics specialist in Vermont. 293 00:13:50,820 --> 00:13:53,250 I have pictures on the right-hand side for each of them. 294 00:13:53,250 --> 00:13:55,590 The first I'd like to mention is Leah Burke, 295 00:13:55,590 --> 00:13:58,500 and she is in Pediatrics, 296 00:13:58,500 --> 00:14:01,440 and also leads the Vermont Regional Genetics Center, 297 00:14:01,440 --> 00:14:04,560 which is located pretty much across the street 298 00:14:04,560 --> 00:14:08,100 from the emergency department. 299 00:14:08,100 --> 00:14:10,470 Well, sort of where the Harvest Cafe is, 300 00:14:10,470 --> 00:14:15,470 if you're familiar with the UVM MC Burlington Campus. 301 00:14:18,270 --> 00:14:20,793 It's across the street in a little white house, 302 00:14:21,660 --> 00:14:25,410 across the street from the entrance to the hospital 303 00:14:25,410 --> 00:14:27,810 off of Colchester Avenue. 304 00:14:27,810 --> 00:14:31,110 And Leah Burke is a wonderful person. 305 00:14:31,110 --> 00:14:35,010 She's a colleague, and someone that I work with quite a bit. 306 00:14:35,010 --> 00:14:40,010 And she leads the team of genetic counselors as well. 307 00:14:40,830 --> 00:14:44,760 And you can find information on how to contact her 308 00:14:44,760 --> 00:14:47,520 as well as I have these links for 309 00:14:47,520 --> 00:14:50,340 all the clinicians I have listed here, 310 00:14:50,340 --> 00:14:51,660 but I'll just click on her 311 00:14:51,660 --> 00:14:53,430 so you can see what it looks like. 312 00:14:53,430 --> 00:14:57,150 This will give you a phone number, fax number, 313 00:14:57,150 --> 00:15:01,743 insurance, address, all that good stuff, to reach Dr. Burke, 314 00:15:03,992 --> 00:15:06,750 and, you know, especially if it's, 315 00:15:06,750 --> 00:15:09,060 you know, useful for a patient, to maybe see. 316 00:15:09,060 --> 00:15:11,010 Her specialty, again, is Pediatrics. 317 00:15:11,010 --> 00:15:15,423 And so if you, if you have a patient, 318 00:15:16,830 --> 00:15:18,720 you know, where it would be most appropriate for them 319 00:15:18,720 --> 00:15:21,390 to see someone in clinical pediatrics, 320 00:15:21,390 --> 00:15:26,283 or you know, neonatal, that would be more her realm. 321 00:15:27,780 --> 00:15:31,200 Stephen Brown is an OB/GYN. 322 00:15:31,200 --> 00:15:33,270 And so that would be, again, 323 00:15:33,270 --> 00:15:34,740 if you have someone who 324 00:15:34,740 --> 00:15:37,580 this would be more in the prenatal setting, 325 00:15:37,580 --> 00:15:40,353 or if they're interested in in vitro fertilization, 326 00:15:41,910 --> 00:15:44,400 he would be the clinician to talk to. 327 00:15:44,400 --> 00:15:47,160 There, again, you can click on the links given, 328 00:15:47,160 --> 00:15:49,560 and that'll give you information to contact them. 329 00:15:49,560 --> 00:15:51,180 Turning to the cancer side of things, 330 00:15:51,180 --> 00:15:55,050 there's the Vermont Familial Cancer Program, 331 00:15:55,050 --> 00:15:57,300 and the Director is Marie Wood. 332 00:15:57,300 --> 00:16:01,770 And so this would be, you're detecting a, 333 00:16:01,770 --> 00:16:04,440 there's, say a family history of cancer for someone. 334 00:16:04,440 --> 00:16:05,700 There's red flags coming up, 335 00:16:05,700 --> 00:16:06,840 someone that you're working with, 336 00:16:06,840 --> 00:16:08,850 and you know, you're not really sure where to refer them, 337 00:16:08,850 --> 00:16:09,960 'cause they don't necessarily, 338 00:16:09,960 --> 00:16:11,250 they're not symptomatic of cancer 339 00:16:11,250 --> 00:16:12,960 or have any signs themselves, 340 00:16:12,960 --> 00:16:14,820 but it may be helpful for them 341 00:16:14,820 --> 00:16:16,530 to talk with the genetic counselor, 342 00:16:16,530 --> 00:16:18,870 to talk with the clinical oncologist 343 00:16:18,870 --> 00:16:20,550 who specializes in genetics, 344 00:16:20,550 --> 00:16:22,290 I'd encourage you to direct them 345 00:16:22,290 --> 00:16:24,390 to the Familial Cancer Program. 346 00:16:24,390 --> 00:16:28,740 And then they may have an appointment with Marie Wood 347 00:16:28,740 --> 00:16:31,890 or Marc Greenblatt also works there, 348 00:16:31,890 --> 00:16:34,710 or the genetic counselor that I'll show on the next page 349 00:16:34,710 --> 00:16:38,610 who specifically works in cancer. 350 00:16:38,610 --> 00:16:42,750 So these are the specialists here in Vermont. 351 00:16:42,750 --> 00:16:46,740 And then if we look at genetic counselors in Vermont, 352 00:16:46,740 --> 00:16:48,600 we'd have Wendy McKinnon, 353 00:16:48,600 --> 00:16:51,270 who specializes in cancer genetics, 354 00:16:51,270 --> 00:16:53,310 and she's the Genetic Counselor 355 00:16:53,310 --> 00:16:55,050 for the Familial Cancer Program. 356 00:16:55,050 --> 00:16:57,570 So if you do have a patient, as I described, 357 00:16:57,570 --> 00:17:00,180 family history, red flags, concerns, 358 00:17:00,180 --> 00:17:01,013 if they make an appointment 359 00:17:01,013 --> 00:17:02,070 through the Familial Cancer Center, 360 00:17:02,070 --> 00:17:04,830 most likely they'll have an appointment with Wendy, 361 00:17:04,830 --> 00:17:09,060 and she works directly with Marc Greenblatt and Marie Wood 362 00:17:09,060 --> 00:17:10,650 and others in that program, 363 00:17:10,650 --> 00:17:12,930 to know kinda what the next steps are. 364 00:17:12,930 --> 00:17:15,510 But she is the one who the patient 365 00:17:15,510 --> 00:17:16,800 would likely sit down with 366 00:17:16,800 --> 00:17:18,660 and have an appointment to discuss 367 00:17:18,660 --> 00:17:21,570 and take a full family history, you know, 368 00:17:21,570 --> 00:17:23,400 pedigree of everything you can imagine, 369 00:17:23,400 --> 00:17:24,870 as much information as you can get. 370 00:17:24,870 --> 00:17:26,520 And she would help with 371 00:17:26,520 --> 00:17:29,163 the patient education aspect of it as well. 372 00:17:30,240 --> 00:17:33,540 Other genetic counselors that, 373 00:17:33,540 --> 00:17:38,130 again, they all work with Dr. Leah Burke 374 00:17:38,130 --> 00:17:40,800 in the Vermont Regional Genetics Center. 375 00:17:40,800 --> 00:17:43,380 So, you know, kind of calling that one number 376 00:17:43,380 --> 00:17:45,870 that's listed for the Vermont Regional Genetics Center, 377 00:17:45,870 --> 00:17:47,670 which is the same number for Leah Burke 378 00:17:47,670 --> 00:17:50,490 or for really, I think, any of these genetic counselors 379 00:17:50,490 --> 00:17:52,590 would get you to the same place. 380 00:17:52,590 --> 00:17:57,030 So Christine Giummo specializes in pediatric genetics, 381 00:17:57,030 --> 00:17:59,670 so she works a lot with Leah Burke. 382 00:17:59,670 --> 00:18:02,940 Leanna Haskin-Leahy is kind of 383 00:18:02,940 --> 00:18:06,330 across a lot of different areas, prenatal, pediatric, 384 00:18:06,330 --> 00:18:08,250 adult genetic counseling. 385 00:18:08,250 --> 00:18:10,470 As well as Denise Bonyun. 386 00:18:10,470 --> 00:18:13,650 So, yeah, you don't need to contact them separately. 387 00:18:13,650 --> 00:18:15,030 I think if you call the one 388 00:18:15,030 --> 00:18:16,560 Vermont Regional Genetics Center, 389 00:18:16,560 --> 00:18:20,730 they can help direct you to the right person 390 00:18:20,730 --> 00:18:22,953 to work with or to refer to. 391 00:18:23,970 --> 00:18:28,410 All right, so that's my list that I know of. 392 00:18:28,410 --> 00:18:30,300 And, you know, certainly there may be others, 393 00:18:30,300 --> 00:18:35,300 but these are the folks that are in the UVM MC system 394 00:18:35,340 --> 00:18:39,450 that are trained in genetics 395 00:18:39,450 --> 00:18:41,463 and genetics health specialists. 396 00:18:43,350 --> 00:18:46,530 Okay, well that sort of takes us to the end here, 397 00:18:46,530 --> 00:18:50,100 and let's just take a little trip down memory lane, 398 00:18:50,100 --> 00:18:53,310 because, I think it's helpful to do that, 399 00:18:53,310 --> 00:18:55,440 just to see how far we've come 400 00:18:55,440 --> 00:18:58,050 throughout this relatively short time in this semester. 401 00:18:58,050 --> 00:19:00,330 You think back to January, 402 00:19:00,330 --> 00:19:02,280 from January to where you are now, 403 00:19:02,280 --> 00:19:03,720 remember back way back then, 404 00:19:03,720 --> 00:19:06,420 we started with the fundamentals of genetics, 405 00:19:06,420 --> 00:19:07,937 the very basics of here's a cell, 406 00:19:07,937 --> 00:19:09,960 inside a cell's a nucleus, inside the nucleus, 407 00:19:09,960 --> 00:19:13,380 dah dah dah dah dah, and you all know that so well now. 408 00:19:13,380 --> 00:19:16,860 And then we moved to aneuploidy, chromosomal abnormalities, 409 00:19:16,860 --> 00:19:18,240 and you know, sort of looking 410 00:19:18,240 --> 00:19:21,540 at those large scale issues that might happen. 411 00:19:21,540 --> 00:19:25,260 And we also talked about mutations as well, 412 00:19:25,260 --> 00:19:27,930 more specific, narrower mutations. 413 00:19:27,930 --> 00:19:31,080 And we talked about patterns of inheritance, too, 414 00:19:31,080 --> 00:19:34,387 dominant, recessive, you remember them all. 415 00:19:35,680 --> 00:19:38,250 And then we talked about gene expression, 416 00:19:38,250 --> 00:19:39,930 regulation, epigenetics. 417 00:19:39,930 --> 00:19:43,140 And you're starting to hear that come up a lot, 418 00:19:43,140 --> 00:19:44,460 and that came up quite a bit 419 00:19:44,460 --> 00:19:45,630 towards the end of this semester, 420 00:19:45,630 --> 00:19:47,010 and even in this lecture, 421 00:19:47,010 --> 00:19:49,620 about the role of epigenetics 422 00:19:49,620 --> 00:19:54,333 in some of these more complex multifactorial diseases. 423 00:19:55,410 --> 00:19:58,167 Taking family health history and doing risk assessment, 424 00:19:58,167 --> 00:20:02,640 and some tips and strategies there. 425 00:20:02,640 --> 00:20:04,950 The ethical, legal, and social implications 426 00:20:04,950 --> 00:20:09,950 that are vast and many, as we start to appreciate 427 00:20:10,140 --> 00:20:12,930 where those might exist for patients and their families 428 00:20:12,930 --> 00:20:14,940 and healthcare providers. 429 00:20:14,940 --> 00:20:17,010 Genetic testing across the lifespan, 430 00:20:17,010 --> 00:20:18,240 when, where we might do it, 431 00:20:18,240 --> 00:20:21,510 and for what purpose we might use those tests. 432 00:20:21,510 --> 00:20:24,600 And then we got into some more, you know, 433 00:20:24,600 --> 00:20:27,510 more complicated topics that 434 00:20:27,510 --> 00:20:29,100 I think are really quite fascinating, 435 00:20:29,100 --> 00:20:31,800 including immunogenetics, cancer genetics, 436 00:20:31,800 --> 00:20:35,550 psychiatric disorders, and public health genetics. 437 00:20:35,550 --> 00:20:38,100 And that's brought us to where we are now, 438 00:20:38,100 --> 00:20:42,480 where I can deliver to you a lecture that, 439 00:20:42,480 --> 00:20:44,880 you know, which is talking about 440 00:20:44,880 --> 00:20:46,380 genome-wide association studies, 441 00:20:46,380 --> 00:20:47,520 talking about linkage studies, 442 00:20:47,520 --> 00:20:49,710 talking about DNA methylation, 443 00:20:49,710 --> 00:20:51,790 talking about these concepts 444 00:20:53,676 --> 00:20:56,160 that you have become familiar with 445 00:20:56,160 --> 00:20:57,630 over the course of this semester, 446 00:20:57,630 --> 00:21:00,660 and I'm hoping will serve you as a foundation 447 00:21:00,660 --> 00:21:04,800 for continued education and expansion of your knowledge 448 00:21:04,800 --> 00:21:08,463 and application of genetics and genomics in your field. 449 00:21:09,840 --> 00:21:13,289 So with that, I want to say thank you so much 450 00:21:13,289 --> 00:21:16,140 for your engagement, for your hard work, 451 00:21:16,140 --> 00:21:17,940 for your dedication, for your time, 452 00:21:17,940 --> 00:21:19,980 your precious, precious time. 453 00:21:19,980 --> 00:21:21,270 This was not an easy course, 454 00:21:21,270 --> 00:21:23,160 and you made it successful, 455 00:21:23,160 --> 00:21:26,820 and I am just incredibly impressed 456 00:21:26,820 --> 00:21:30,480 by how each of you has grown and progressed 457 00:21:30,480 --> 00:21:32,340 over the course of the semester 458 00:21:32,340 --> 00:21:35,430 and the dedication you've shown to the course. 459 00:21:35,430 --> 00:21:37,350 So thank you so much for that. 460 00:21:37,350 --> 00:21:40,080 Thank you, thank you many times over, 461 00:21:40,080 --> 00:21:45,080 and I certainly intend to be available, 462 00:21:45,450 --> 00:21:48,780 be around for you for the rest of this semester, certainly. 463 00:21:48,780 --> 00:21:50,370 But then anytime beyond that, 464 00:21:50,370 --> 00:21:52,440 anytime you ever wanna talk about something, 465 00:21:52,440 --> 00:21:54,930 you just wanna send me something interesting you find, 466 00:21:54,930 --> 00:21:57,360 or you have a question on something, please, 467 00:21:57,360 --> 00:22:00,000 please don't hesitate to stop by, 468 00:22:00,000 --> 00:22:03,060 send an email, phone call, whatever. 469 00:22:03,060 --> 00:22:08,060 I would be more than thrilled to continue our relationship 470 00:22:08,850 --> 00:22:11,580 beyond the duration of this semester. 471 00:22:11,580 --> 00:22:14,400 But in the context of this semester, 472 00:22:14,400 --> 00:22:17,700 thank you very much, and I very much appreciate it. 473 00:22:17,700 --> 00:22:19,350 It's been an absolute pleasure 474 00:22:19,350 --> 00:22:20,790 to have each of you in the course, 475 00:22:20,790 --> 00:22:24,240 and I look forward to continuing 476 00:22:24,240 --> 00:22:27,060 to work with you each in the future. 477 00:22:27,060 --> 00:22:28,260 Thanks so much, bye-Bye.