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• 
  @Suresh-sk3vu25 күн бұрын

  Super

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  @basic-lyАй бұрын

  Thanks! Great video! 😇

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  @renzo2842Ай бұрын

  thank you, sir. I have an exam regarding this concept in two days

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  @sanjaisrao484Ай бұрын

  Thank you, Excellent explaination

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  @pml11113 ай бұрын

  Yes, genetics medicine is bittersweet this days. Knowledge but not treatments all the times.

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  @George-rq1yp7 ай бұрын

  damn, best presenter i have seen!

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  @childspecialist-dr.akumtos43837 ай бұрын

  Thank you..... excellent presentation 😊

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  @yungbloodas37897 ай бұрын

  Thank you so very much!

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  @mahnoorkhan55018 ай бұрын

  Outclass explanation.... Like it

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  @Meatlessmuffin8 ай бұрын

  Who else has a biology test tomorrow 😢

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  @Sof_7.2 ай бұрын

  Me 😢

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  @harrisonbrown75332 ай бұрын

  Yo me bro 😂😂😂

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  @Mmouse.Ай бұрын

  Two days lol

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  @Harinipriya257Ай бұрын

  Me😂

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  @George-pe3mxАй бұрын

  Exams 😂

• 
  @Saed76308 ай бұрын

  Excellent presentation!

• 
  @GenomicsEducation10 ай бұрын

  TIMESTAMPS 00:00 Start 04:50 Overview and webinar one recap 06:28 What are cancer mutational signatures and why are they important? 09:04 Mathematical concepts to define mutational signatures 12:38 What do mutational signatures look like (with examples)? 16:15 Extracting and checking mutational signatures 20:23 Caveats to extraction 24:10 Assigning mutational signatures to samples 29:12 Examples 33:22 Clinically relevant signatures summary table 35:22 Mutational signatures: HR deficiency 41:17 Mutational signatures: MMR deficiency 45:12 Mutational signatures: POLE dysregulation 49:05 Mutational signatures: MBD4 mutated cancers 51:03 Mutational signatures: NTHL1 loss 51:18 Mutational signatures: Biallelic MUTYH mutation 55:10 Mutational signatures: Long tandem duplicators 56:12 Mutational signatures to watch out for 57:36 Acknowledgements and Q&A

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  @sarahvegter79011 ай бұрын

  What if the father has the condition and the mother is a carrier of the trait, can their daughter have the condition?

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  @GenomicsEducation11 ай бұрын

  Hi and thank you for the question. Any daughter from this couple will always inherit the X chromosome with the genetic variant for the condition from her father, but she may or may not inherit the X chromosome with the genetic variant for the condition from her mother. From this couple: - for daughters, 50% will have the condition while 50% will be carriers for the condition (on average). - for sons, 50% will have the condition and 50% will not have the condition (on average).

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  @GenomicsEducation11 ай бұрын

  TIMESTAMPS 00:00 Welcome and introductions 02:05 Discovering the molecular background to Cystic Fibrosis 05:14 What is the genetics of CF? 07:49 Phenotypes seen in CF and patient prognosis 12:46 CFTR types overview 13:45 CFTR modulators and triple therapy 16:27 Ivacaftor - clinical trials, real-life data, patient experiences and costs 24:02 Double therapy - Orkambi and Symkevi outcome data, patient experiences and costs 28:15 Triple therapy - What did the Kaftrio clinical trials show? 31:53 Kaftrio is commissioned by NHS England in 2020 35:16 What are patients on Kaftrio experiencing? 38:00 The estimated Katrio cost to the NHS 40:36 Ethical and access considerations 43:13 Type-1 CFTR drug efforts - CRISPR and gene editing 45:34 Talk conclusions 46:30 Q&A and close

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  @GenomicsEducation11 ай бұрын

  TIMESTAMPS 00:00 Introductions and talk overview 01:56 What is cancer, to our genome? 07:20 How does a childhood cancer genome differ from that of an adult? 12:43 WGS, paediatric oncology and equitable access 16:22 Patient and parents' perspective and NHS service implications 20:11 100,000 genomes project and paediatric genomes 27:22 Case study 1: Treatment of a 10 year old with Wilms tumour-like genomic changes in RCC 31:09 Case study 2: 16 month old's tumour treatment decided after WGS 36:00 The 'live programme' at Cambridge 39:02 Case study 3: Baby with unknown mass achieves diagnosis 41:14 Conclusions on WGS in paediatric oncology 42:30 Wrap up and Q&A

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  @GenomicsEducation Жыл бұрын

  TIMESTAMPS 00:00 Introductions and talk overview 02:20 Learing objectives 03:05 What is target validation? 03:34 What is Open Targets? 05:10 What are orphan drugs? 06:49 How are the DDD project, DICIPHER database and DDG2P database related? 08:05 Motivation behind the repurposing drugs for rare disease algorithm. 10:48 Method 13:55 Results 16:30 Analysis of data 19:49 Real world example 1 - Penttinen-type premature aging syndrome 20:31 Real world example 2 - Hyperkalaemic periodic paralysis type 1 22:38 Real world example 3 - CLOVES 25:03 The future of repurposing dugs for rare disease 26:34 Acknowledgements and wrap up 28:00 Q&A

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  @denizguzel1942 Жыл бұрын

  ❤

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  @phongvong8639 Жыл бұрын

  Hi! Everybody.

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  @Omar-Khaairy Жыл бұрын

  Thanks

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  @Omar-Khaairy Жыл бұрын

  Thanks

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  @Omar-Khaairy Жыл бұрын

  Thanks so much

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  @debbie9271 Жыл бұрын

  this is very exciting to watch. i look forward to a future working with biomedical data

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  @debbie9271 Жыл бұрын

  just from the answers, its quite easy to see so many connections regarding the sudden death. family history is definitely important. thank you for this enlightening video

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  @GenomicsEducation Жыл бұрын

  TIMESTAMPS 00:00 Introductions and talk overview 02:57 What is SMA? About its types and genomics 12:50 What symptoms should clinicians look out for for the different SMA types? 19:39 Intro of nusinersen, risdiplam and Zolgensma treatments 21:44 Clinical trials - an overview 23:25 Endear: a nusinersen clinical trial in babies (in depth) 30:42 The Fish trials for risdiplam (Rainbow-, Fire-, Sun-, Jewel-fish) 36:13 Zolgensma: overview, treatment, side effects, considerations 41:57 Treatment benefits of nusinersen, risdiplam and Zolgensma 42:11 About the presymptomatic clinical trials (Spr1nt, Rainbowfish, Nurture) 45:55 What are we seeing from real-world data? 50:31 New understandings: SMN gene and SMA disease progression 56:11 Combination therapies 57:21 Q&A and wrap up

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  @tingtingshao1833 Жыл бұрын

  super helpful, clearly explained, thanks very much

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  @AnkitaSingh-zx9qv Жыл бұрын

  Crisp, on point & informative.

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  @GenomicsEducation Жыл бұрын

  TIMESTAMPS 00:00 Introductions and talk overview 01:45 History and the present of gene editing 05:24 What is gene editing? How does gene editing work (in detail)? 10:59 The ZFN and TALEN gene editing systems 14:40 About the CRISPR/Cas system 21:50 CRISPR in practice 28:59 CRISPR use cases: from drug discovery to as a drug itself 35:10 CRISPR/Cas limitations 38:23 CRISPR's future uses: as a nickase or epigenome modifier 42:39 CRISPR in the clinic 45:45 CRISPR's economics and CRISPR ethics 49:40 Q&A and wrap-up

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  @GenomicsEducation Жыл бұрын

  @TheHilaaluk asked: "if we have a wild type sequence that we wish to insert, how do we know that that particular wild type will be curative considering that wild types may differ based on ethnicity/populations? ​i.e. a wt sequence for one population may not be the wt for another population". Our expert's response: If there is ethnic genetic heterogeneity, and this is a totally bespoke therapy, I’d choose the WT gene from the parent (unlikely situation). If it’s not bespoke, I’d choose the sequence found at highest rates in the population with the highest amount of disease burden to insert. However, I do doubt it would really matter as many of these genes and their variance to create multiple normal ‘wild types’ are unlikely to have a significant phenotypic effect if replaced with other WTs.

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  @stangerthings2684 Жыл бұрын

  This is my dream job!

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  @mel649710 ай бұрын

  Same!

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  @MykianaRichardsАй бұрын

  Same

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  @randomdude9242 Жыл бұрын

  ❤Nice video keep up the good work!

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  @tomkunproductions3442 Жыл бұрын

  yey

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  @GenomicsEducation Жыл бұрын

  TIMESTAMPS 00:00 Welcome and introductions 02:28 Contents and scope of webinar 04:03 Gene-directed therapies: an introduction 06:34 What is gene expression? 11:10 How does a cell 'decide' what genes to express? 19:34 How to target to a gene expression pathway? 24:03 How are gene-directed therapies delivered? 25:17 Issues in delivery: cell-autonomous and payload immunity 28:48 Ex vivo delivery: haematopoietic stem cells (HSC) 32:54 Ex vivo delivery: lentivirus 35:12 Ex vivo delivery: CRISPR therapeutics 38:23 Ex vivo summary 40:13 In vivo therapeutics and administration challenges 42:52 In vivo: AAV 46:12 In vivo: siRNA 49:43 Q&A and close

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  @cliveasande1899 Жыл бұрын

  Splendid explanation, thank you!

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  @surfingguru5360 Жыл бұрын

  Fantastic video, so many views yet not a single comment, huh!

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  @scottmunix1409 Жыл бұрын

  very odd

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  @pattyalcala86329 жыл бұрын

  I was so touched by this video. I have a blog: iamnotsickboy.com where I advocate for children with chronic diseases and their families. I am going to share it there. I believe that this will an inspiration for all that are going through such a difficult time. Thank you for sharing this story.

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  @TheDietrichDaniels9 жыл бұрын

  Bless Lewis and his family.