Відео

Dnm1 mutation any trails going?

Bullshit... Wasted my time

Fantastic! Thanks a lot!

I have a Text-To-Speech app on my phone for when I cannot speak. I have the ATP1a2 mutation, and the position of the mutation is undocumented (not the typical position). I also have DEE and myoclonic epilepsy

"May" increase the chance with it and still can get it without. Where the hell did you get this from

This is life changing information! I’ve dealt with this type of migraine for over 40 years. My family decided that I was demon possessed, and doctors convinced my x-husband that it was a mental disorder. I can’t believe, I’ve found the answer. I’m absolutely socked by this information, thank you so much for sharing.

Where is the info about exome sequencing ?

My daughter just got diagnosed with this. She is scared beyond belief of the symptoms and freaking out right now. I’m concerned for her and researching as much of this as I can to find a way to ease her suffering dealing with this illness. My mom had it but we never knew this was what it was the whole time until my daughter started having really bad occurrences of it recently as she was diagnosed. I have 3 children and so far one which is my oldest child and daughter is now battling this illness in her early 30’s. My mom had it in her 40’s. Don’t know if my 2 young sons will have it or not. I’m just beside myself right now on what the future holds for them all. Thank God there is more research on this now then there was over20 years go when my mother had it. Hopefully it can help my daughter fight this illness now. It breaks my heart to see my healthy child break down with such a serious illness like this out of no where while she was attending college to be a chef. Her whole world came crashing down. And momma can’t do nothing about it to help her. So sad inside but we gonna keep doing our research and keep looking for ways to help her cope with it and see if we can find some treatments to help her manage it now. Thank you for the video, I’m going to pass it on to her!! God bless you and yours.

stupid, dont call the video exome sequencing

Ok this is great! But what is exome sequencing?

Illumina tech is so old and complicated. Yeast literally does sequencing by synthesis on nanograms of sugar.

Both grandfather's had cancer. So... chance?

Mutyh g>c was found in a 65 y o Indian woman with hr+ her2- early t1c breast ca, she had triple - variety 25 yrs prior to this in the other breast. A heterozygous variation c.1102G>C in the exon 12 of the MUTYH gene was identified.

Is T-Cell acute lymphoblastic leukemia hereditary or not???

how is cluster density quantified? I know it is given in units of K/mm2. How are the clusters detected initially before SBS starts?

I was 26 years old in 1993 when my intestinal bleeding led to a diagnosis of colon cancer. Five months later the doctors at the Saint Louis Veterans Hospital asked Dr Gardner to come consult on my case because I had growths the whole length of my large intestine. I was diagnosed with Gardner Syndrome. In 1994 I underwent the 27 hour surgery to remove my large intestine and getting the J pouch. I had the dreaded ileostomy bag for two years. Sadly I do not remember any of the doctors telling me that I will pass on the defected gene to offspring. After 4.5 years in the hospital and the loss of 153 pounds. I meet a lass and we married and had two boys. Our oldest at age 12 in 2013 and our youngest at age 11 in 2020 both started bloody stools that led to the doctors finding out they had colon cancer and they as well now have J pouches. It is nearly impossible as an adult to find a doctor who knows about Gardner Syndrome. It is IMPOSIBLE to find a child doctor who does. Adding two growths in our sons bile duct makes finding any doctor who knows what to do now has been impossible. So it is just the normal 6 mo scopes to check growth. I do wish there was such a thing as a talk group but our sons Physiatrists do not know of one and the veterans Administration tells me I am the only veteran with it so no talk group. I applaud your facing it head on attitude. Our family (my wife, me and our two boys) have adopted a laughing at it to cope. Their continued intestinal bleeding and abdominal pain when they try to be active limits any desire for that.

So if my paralysis doesnt improve even after several weeks does it mean its permanently damaged?

You expect me to believe that suntanning causes cancer? You’re telling me that something as natural as spending time in the sun, the oldest past time known to man causes cancer? Lolol

We know you’re not going to truthfully tell us what the root cause of cancer is. Because if you told us the root cause of cancer, it would be painfully clear how one percent cancer by the means Inc. thing and sees that are driving mutations. Oh, not financial Pharma so all your left bullshit. So you lie as people die

bad

Absolutely wonderful! Thank you for putting together and simplifying all the information

I need someone or group to talk to. Help

Does anyone know how only the reverse strands are removed from flow cell?

My son just got diagnosed with FAP this week. He is only 15 months old. This video was helpful and hopeful. I hope you are doing well.

I was diagnosed by a headache/migraine Neurologist with having Hemiplegic migraine 2 years ago after having to attend the ED of a hospital a couple of times for what they thought was a Stroke or a T.I.A. Just last year alone I was hospitalized up to 7 times with HM attacks where at one time I was paralysed from the waist down so was unable to walk and had limited sensory abilities. I am currently being treated with Sodium Valproate which has been helping me manage the symptoms and the attacks have decreased from 12 or more a month down to 2,the effects of HM have been extremely debilitating and have led me to have CPR due to me stopping breathing twice last year. Thank you for making this awareness video as I feel it will help so many who are also battling this horrible neurological disease. I do know that mine are related to the prrt2 Hemiplegic migraine attacks as I have the 16p11.2 chromosome duplication confirmed by a genetics counsellor.

I'm right here with you.. I waited a Lil too long thanks to my step dad for not taking my health serious.. thankfully I'm still alive

Thank you it is excellent webinar, I wonder if PDF s available?

My mom, my aunt, my grandmother all had cancer.

excellent

Thank you Doc.

My echocardiogram showed a enlarged left chamber and my calcium score was 1140 so I had a heart catheterization and no blockage and my ECG showed heart failure I have diabetes and very high blood pressure and CVI in my legs stage 5 that what a vascular surgeon said and diabetic neuropathy in my legs which makes it very hard to walk would I be considered having genetic heart failure or chronic heart failure my cardiologist has on my medical records as chronic 'congestive'heart failure

The inherited cerebral small vessel disease CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) should be considered as well, especially if these FHMs persist into early adolescence or do not even begin until young adulthood. Migraines (with or without aura) are a significant symptom (often the presenting symptom) of many people with CADASIL. I had regular FHMs for about 23 years, lasting from a couple of days to a couple of weeks. Left-sided parasthesia (partial or complete) were a feature of almost all of them. I've had all the symptoms you described, at some time or another, and not necessarily together. Seven years after my migraines began, I was diagnosed with CADASIL (my mother had been diagnosed six years before me). Thanks for sharing your lived experience - it provides important insights to others with FHM and, perhaps more importantly, for their relatives and friends who don't understand the condition, some of whom may be dismissive and play down its impact on our lives. And I love the mosquito versus shark comparison!

Fantastic overview of genetic testing!

Brilliant - LOADS of information in a short time. Of course there is new data now but still really love how you presented the facts about PARPi treatment and MoA!

I wasin the snowboard industry in the early 90's in NZ, that's were was also diagnosed. I have a had a total colectomy 6 years ago now for A. F. A. P, lots of polyps in stomach thyroid shot but still want go on adventures.

Informative, thanks!

End of may I went to the ER with stroke symptoms ever since I’d have stretches I’d get better then barely can walk. In that time I’d have a migraine a week. Was diagnosed with this today

Do you provide testing kits that can be sent to the UK, please?

Travis.. You are so strong. I am very inspired by your story!

Meeting Dr Igudia UA-cam channel was the beginning of a new life for me after using his herbs medication in curing my type 2 diabetes disease completely

Hi guys do you know any online forum or community group for people with hemiplegic migraine?

Thank you so much for sharing this! I am a sufferer too and it’s so good to have it explained properly like this. Also to know I’m not on my own with this xx

It's very new and difficult for me. But after watching this video, I'm clearly understand. Thank you very much.

If I were a Vaxxer, I’d be really concerned with what has happened to countless other Vaxxers: Christopher Stalford, (photographer) Chris Coulter, Jamal Edwards, Gaia Young, Michelle Hayes, Jordan Robinson, Cameran Wheatley, Lucy Taberer, Ernesto Ramirez Jr, Leah Carolan, Dr. Paul Farmer, Founder Of Partners In Health, Jamie A. (Knox) Bouchard, Katie Novak, Kevin Gregory, Madison High principal David Robinson, Conall McGuiness, Autumn Tennison, 21… RIP. Betsy Castle (elementary school principal), (college student) Heather Marie Rotz, Paula Cohen-Martin (author), coach Stephen Spitzer, Sandra Clifford, teacher Cathy Malgieri, Labour MP Jack Dromey, Preston Settles, Tobiloba Taiwo, Javier Silva-Biotti, Daniel Perkins age 36, Alice Koh, Christopher Cowe 15 yrs old, Victorian Labor Senator Kimberley Kitching, Calvin Middleton, Knoxville teacher Eric Robertson, Shane Warne (cricket player), Dr. SarahBeth Hartlage, Senior Australian investment banker Chris Forman aged 48, makeup artist AJ Crimson age 27, pharmacy owner Lakeram ‘Mike’ Singh, Kelly Ellis age 33, European Parliament President David Sassoli, technologist Erin Julia Beebe age 26, History teacher Morar Ashburner, Megan Reid, 17.… RIP. Essex high school student Ryan Heffernan, age 12, Firefighter Kenneth Enright, footballer Red Og Murphy age 21, officer Joseph Kabungo, Kim Lockwood 34, Kasey Turner 18, Rugby player Maddy Lawrence 20 yrs old, footballer Christian Eriksen, footballer Sergio Aguero age 33, John Paul Viggiano 45, Mary Jane Thomas, director Uwe Bohm 60, 14 yr old Aaron Vasquez, Peter O’Hagan 18 yrs, Stuart Page 57, … RIP Scottish parliament official David Hill, Irish UN Jim Kelly, 16-year-old Welsh football player Elgan Jones, cyclist Tomas Walsh 43, cyclist Andrew Oliver 36, Edinburgh dad Darren Dickson, Ryan Lerkee age 33, NI businessman Ciaran McGuran age 43, Christopher Crisler age 38, Tomas Walsh age 43, footballer Thomas Rankin age 26, Robert Doogan 33, Rutgers U student Ronald Anthony Croce 24, St Louis County executive Cora Faith Walker, PLYMOUTH - Town Clerk Pearl Sears, vocalist Keaton Pierce, country singer Jeff Carson, Zarife Imeri, 23, Cedric baekeland 28, Helena de Marco Lavalle- 5 Year Old Girl From Brazil, math and science teacher Amy Depp, footballer Jorge Salmerón Mezcua age 13, Gregory F. Scelzi, "Greg" age 17, journalist David McKechnie age 45, Michael 'Mikey' Hynes, 22, Jody Keenan 39, Michael Hynes 22, Emily Louise Throckmorton 44, musician Simon Clulow 39, Allen Ray Grimes, II 32, Adam John Ocker, 35, Dru Curtis Gladney 65, Maria Cristina Taralli 45, Cuban Judo champion Estela Rodriguez 54, John Paul (JP) Ramel, bass player Tim Feerick age 34 yrs, 20 yr old softball player Lauren Bernett, Amanda McManus 36, Robbie Roper 18, Julian ‘Jools’ Sweeney 14, Layth Maumoniat 12 yrs old, Neil Campbell 45, Rachel Quinn 27, Sushant Singh Rajput 34, Karly Scott, 24, Mary Frances Cronin, 23, Oliver (Ollie) Heimreich 12, principal Philip Carollo 56, Lazar LaPenna 10, Emma Horrell age 31 … RIP. RIP to Petra Mayer (NPR), and Dr. Sohrab Lutchmedial, both JUST had their booster days prior. Kim Mi-Soo and Brittany Lauderback , Marvelous Marvin Hagler, rapper DMX, Alexandros Lampis... RIP. Eric Blumreich, Coach Ron Frederick, EMT Matthew Clancy, Bradley Bowman, Serbegeth Singh, Breck Denny, TikTok creator Candice Murley.. RIP

Sounds like genome sequencing and not exome sequencing...

My son just started having these out of the blue in march 2021 and received his cfhm diagnosis feb 23, 2021. Hearing you speak it’s like watching him when it happens. The first two were 6 months apart and the er doctors attributed them to panic attacks when he was in completely calm situations both times. He now is having some cardiac issues and he’s hoping the newly prescribed topiramate will help him to the point he can play high school basketball and drive.

Lifetime Tyrer-Cuzick: 5.42 %

Iñárritu secret side project??

Disliked. The video has no information on Exome sequencing.