Entries from 2020-10-01 to 1 month
CRISPR, Stem Cells, Gene Modifiers – The Future of Marfan Research (August 27 2020) E3 Summit 14:28-16:57 So the second major hurdle was to come up with an efficient way to modify the DNA, to correct the DNA. There are many different metho…
CRISPR, Stem Cells, Gene Modifiers – The Future of Marfan Research (August 27 2020) E3 Summit 13:11-14:27 So the first major obstacle was to come up with a way of making these stem cells and importantly they're not just any stem cell. They…
CRISPR, Stem Cells, Gene Modifiers – The Future of Marfan Research (August 27 2020) E3 Summit 11:20-13:10 So what's involved in the process of correcting a cell outside of the body and then giving it back? Well, first up on the upper left …
CRISPR, Stem Cells, Gene Modifiers – The Future of Marfan Research (August 27 2020) E3 Summit 10:15-11:19 So what is genome editing? So it's a global term that's meant to imply purposeful modification of the DNA within a target cell type o…
CRISPR, Stem Cells, Gene Modifiers – The Future of Marfan Research (August 27 2020) E3 Summit 7:22-10:14 So tonight we're going to talk about three topics. With little side discussions of some modifications of these methods, but in essence…
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 50:09-52:26 Q:My daughter aged 37 was clinically diagnosed with Marfan syndrome. The only geneticist she could find was a pediatric Marfan geneticist. She told my daughter, s…
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 47:19-48:27 Alright, so if you're wondering what else your genetic counselor is able to help you with, my most important piece of advice is to just ask. Next slide. 遺伝子カ…
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 44:47-47:17 Okay, so if you have yet to see a genetic counselor and you're wondering how you could best prepare to see one, here are my best pieces of advice. 遺伝子カウンセ…
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 42:30-44:44 So that's we've been talking about all of this. If you found yourself wondering, you know, "Doctors could do genetic testing. Why should I even work with a geneti…
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 37:39-39:55 All right, so our last case of the day involves an 8-year-old boy, who is very recently diagnosed with Marfan syndrome. He and his family are from a very small ru…
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 35:57-37:39 So one of these options is called pre-implantation genetic diagnosis or PGD for short and this option is best for parents who wish to prevent passing their known …
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 34:06-35:56 So our last set of case examples. Here we'll cover how genetic counselors support their patient's emotional needs and psychosocial concerns. ご紹介する症例も残す…
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 29:43-34:04 So our next case, we have a 16-year-old boy, who is very tall, very slim. He has notably long fingers and toes and he also has a very mild curvature or scoliosis …
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 25:12-29:42 So for our next case, we have a 15 year old girl who has been followed by a cardiologist since birth after she was found to have a heart murmur. The heart murmur …
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 24:01-25:11 So the next very crucial role for many genetic counselors is the interpretation and disclosure of genetic testing results. 多くの遺伝カウンセラーの非常に重要な役…
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 22:22-23:57 All right. For our next case, we have a five-year-old little boy with aortic root dilation again and mitral valve prolapse. So he also has very loose joints, whic…
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 19:18-22:20 So now we'll move on to our next most common rule for genetic counselors. We've already covered this a little bit in the previous case example, but I want to disc…
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 16:46-19:12 We talked about, when we discussed, cascade testing or follow-up testing for his relatives. So in this case, we recommended that both of his children as well as h…
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 15:53-16:45 So now that we know that there's a genetic diagnosis, it's also very important to review the inheritance of that diagnosis. 遺伝性疾患ということになれば、遺伝につ…
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 14:25-15:49 So now we're back with our family tree and as you see here, with the change in shading in the father, we've done genetic testing and he's tested positive for a mu…
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 13:16-14:24 So once we've explained what genetic testing is, who should have the test done, the next important step in the discussion is to explain the benefits and limitatio…
The Role of the Genetic Counselor - Empowerment Series - 3/14/19 11:56-13:15 And another really important part of this process is explaining exactly what this testing panel does, which takes us back to a quick high school biology lesson in…
