1 00:00:01,530 --> 00:00:05,580 Hello, this is Dr. Bob Wildin, I am your instructor. 2 00:00:05,580 --> 00:00:07,563 No longer Tamara Williams, 3 00:00:08,400 --> 00:00:10,320 at least for this module. 4 00:00:10,320 --> 00:00:12,390 And I'm giving your introduction to module 5. 5 00:00:12,390 --> 00:00:16,860 So module 5 is about beginning to translate 6 00:00:16,860 --> 00:00:20,490 that basic genetics and biology information 7 00:00:20,490 --> 00:00:24,870 that we've been learning about for several modules 8 00:00:24,870 --> 00:00:29,870 into something that we actually use in the clinic. 9 00:00:30,360 --> 00:00:34,350 And the topics for this module 10 00:00:34,350 --> 00:00:37,950 are about genetic change, mutations, 11 00:00:37,950 --> 00:00:42,810 and how they cause phenotypes. 12 00:00:42,810 --> 00:00:45,090 The sets of features that we describe 13 00:00:45,090 --> 00:00:47,373 in patients with genetic disorders. 14 00:00:48,540 --> 00:00:51,360 It's about simple patterns of inheritance, 15 00:00:51,360 --> 00:00:53,340 so-called Mendelian inheritance, 16 00:00:53,340 --> 00:00:58,340 those that were described and explained by Gregor Mendel. 17 00:00:59,550 --> 00:01:03,420 And about using family history 18 00:01:03,420 --> 00:01:06,990 and the tool that we use to 19 00:01:06,990 --> 00:01:09,540 sort of shorthand for family history, the pedigree, 20 00:01:10,590 --> 00:01:15,413 in relation to Mendelian patterns of inheritance. 21 00:01:16,470 --> 00:01:21,470 So, we really are sort of pulling along with us 22 00:01:21,900 --> 00:01:24,750 on that knowledge of the basic genetics 23 00:01:24,750 --> 00:01:27,790 and the mechanisms of gene expression and translation 24 00:01:29,500 --> 00:01:34,500 to began to apply it really to things in the clinic. 25 00:01:34,950 --> 00:01:38,220 Now, we delved into that a little bit last week 26 00:01:38,220 --> 00:01:41,310 in the discussion board exercise. 27 00:01:41,310 --> 00:01:44,730 And I thought that was really fun and productive. 28 00:01:44,730 --> 00:01:46,410 You guys did great. 29 00:01:46,410 --> 00:01:51,410 And I want to sort of continue that in this module. 30 00:01:52,860 --> 00:01:57,420 So, there are two lectures by Tamara Williams, 31 00:01:57,420 --> 00:02:02,160 and then one by me about making pedigrees. 32 00:02:02,160 --> 00:02:04,200 And we'll just sort of jump ahead 33 00:02:04,200 --> 00:02:05,700 and let you know that 34 00:02:05,700 --> 00:02:08,340 from next week, we'll continue this overall theme, 35 00:02:08,340 --> 00:02:10,950 but we're going to be talking about other 36 00:02:10,950 --> 00:02:12,783 more complex imperatives, 37 00:02:14,160 --> 00:02:17,580 problems, and more complex ways 38 00:02:17,580 --> 00:02:21,660 to represent more complex situations 39 00:02:21,660 --> 00:02:24,000 in the pedigree as well. 40 00:02:24,000 --> 00:02:27,510 So, for this week, in addition to the three lectures, 41 00:02:27,510 --> 00:02:31,410 you have corresponding reading assignments in the book, 42 00:02:31,410 --> 00:02:34,230 and then also a required exploration 43 00:02:34,230 --> 00:02:38,130 of a great, great web resource, Genetics Home Reference, 44 00:02:38,130 --> 00:02:40,200 which we also touched on last week 45 00:02:40,200 --> 00:02:42,600 in the discussion board exercise. 46 00:02:42,600 --> 00:02:44,910 But this time, we have a complete walkthrough video 47 00:02:44,910 --> 00:02:45,930 by Tamara Williams. 48 00:02:45,930 --> 00:02:50,160 Now, you'll notice that the video that she made 49 00:02:50,160 --> 00:02:52,650 was at a time when the look and feel of the website 50 00:02:52,650 --> 00:02:53,483 was a little different. 51 00:02:53,483 --> 00:02:55,770 But rest assured that the content, 52 00:02:55,770 --> 00:02:57,123 the basic navigation, 53 00:02:58,260 --> 00:02:59,570 and the organization of the information 54 00:02:59,570 --> 00:03:03,060 is really entirely the same as it was then. 55 00:03:03,060 --> 00:03:04,510 So don't get put off by that. 56 00:03:05,649 --> 00:03:06,482 You have an assignment, 57 00:03:06,482 --> 00:03:08,730 which consists of three case studies. 58 00:03:08,730 --> 00:03:10,440 And you can use Genetics Home Reference 59 00:03:10,440 --> 00:03:14,610 or other similar authoritative source to help answer those. 60 00:03:14,610 --> 00:03:16,980 The level of detail in your answers 61 00:03:16,980 --> 00:03:18,660 does not to need to be extensive, 62 00:03:18,660 --> 00:03:21,170 but it does need to be sufficient 63 00:03:21,170 --> 00:03:23,253 to really answer those questions. 64 00:03:24,420 --> 00:03:27,630 If you want to see how your answers feel 65 00:03:27,630 --> 00:03:29,430 to people who are non-medical, 66 00:03:29,430 --> 00:03:31,080 pick some out of your friends or family 67 00:03:31,080 --> 00:03:35,913 and try them out on those willing subjects. 68 00:03:38,394 --> 00:03:40,470 Discussion board this week is self-explanatory. 69 00:03:40,470 --> 00:03:41,370 It's a pretty busy week, 70 00:03:41,370 --> 00:03:43,620 so please try to keep things succinct. 71 00:03:43,620 --> 00:03:47,010 And remember that there is a Q&A board 72 00:03:47,010 --> 00:03:50,250 still there this week for any questions you may have. 73 00:03:50,250 --> 00:03:52,550 Finally, there is, of course, a required quiz. 74 00:03:53,640 --> 00:03:58,230 So, I'm really excited to be moving more 75 00:03:58,230 --> 00:04:00,840 into the clinical domain 76 00:04:00,840 --> 00:04:05,550 and starting to meld those basic knowledge 77 00:04:05,550 --> 00:04:07,260 that we've been developing 78 00:04:07,260 --> 00:04:12,260 into talking about genetic diseases, about inheritance, 79 00:04:13,556 --> 00:04:16,040 and also some of the tools that we use 80 00:04:16,040 --> 00:04:18,702 in the clinic on a regular basis 81 00:04:18,702 --> 00:04:22,256 to try to understand what's going on. 82 00:04:22,256 --> 00:04:24,720 So, I look forward to a great week, 83 00:04:24,720 --> 00:04:26,440 and thank you for now.