PL05.1 - ESHG Award Lecture
28:22
Пікірлер
@secilkaracakurtulmus9262
@secilkaracakurtulmus9262 25 күн бұрын
Thank you for the informative session
@richardarrow3691
@richardarrow3691 2 ай бұрын
Great thorough work! How would one explain simple inductive capacity of the tooth in less then 3 minutes? Please include: inductive signalling, tooth formation, and self renewing potential?
@samuelb.5153
@samuelb.5153 2 ай бұрын
What is the difference between Karyomapping and "conventional PGD" / PGT-A?
@anmolpardeshi3138
@anmolpardeshi3138 3 ай бұрын
horrible audio! :(
@anmolpardeshi3138
@anmolpardeshi3138 3 ай бұрын
also (at 1249) mQTL can also be reserved for methylation QTL which also highlights that "methylome" isnt included in that omics paradigm.
@jacobmatthewseymour
@jacobmatthewseymour 3 ай бұрын
Brilliant. Glad this work is getting out. We need very comprehensive efforts towards identifying the extent of statin-related morbidity.
@kylealexander593
@kylealexander593 3 ай бұрын
WHAT? This is crazy. How can a scientist even suggest not turning over results. Or only partial results. I cant believe this. Then she goes on to give examples of how to hide the results in convert ways.
@fernandoacostalopez6792
@fernandoacostalopez6792 4 ай бұрын
Erlich is a fascist that has sent death threats to politicians and has called israel "rhodesia with nukes" as a compliment
@Illaexur
@Illaexur 4 ай бұрын
thank you for the information
@sunnyyoda
@sunnyyoda 5 ай бұрын
very nice and simply explained, loved the presentation
@Beverly-e4z
@Beverly-e4z 6 ай бұрын
Abortion has nothing to do with health unless the mother's health is endangered. How dare they put that beneath this condition. Murder mongering Luciferians.
@elifiscan3478
@elifiscan3478 7 ай бұрын
Hello, I am 35 years old.and its my first pregnancy. İn the week of 11+4 ultrasound scan came out quite well, even looking at the nuchal thickness and nasal bone, I can say that the baby is 70 percent healthy, my perinatalog doctor said. However, as a result of the double test performed that week, trisomy 13/18 : 1:50 came out. Nipt test was performed in my 14th week and the result was trisomy 9 high risk. When examined by ultrasound at regular intervals, no anamoli was seen in the baby. I received genetic counselling and the doctor said that this result indicates baby could be 99% healthy, 1% mosaic trisomy 9. And he said it could possibly be mosaism limited to the placenta. I will go to a specialist perinetologist at 16+3 weeks of pregnancy to consult whether I need to have amniocentesis and for repeat ultrasound examinations. Also, the baby is 4 days ahead in terms of development. Have you come across a case progressing in this way? You will be doing a great favour if you share your risks, information and comments.
@Vade_mecum_
@Vade_mecum_ 7 ай бұрын
Medical student from the Czech Republic. Thank you for this wonderful lecture. I was overwhelmed with inborn errors of metabolism while studying for my pediatrics state exam. But when a difficult topic is presented by a brilliant mind, one quickly gains unique insight. Thank you ESHG for making the lecture public!
@SHHR-SH
@SHHR-SH 8 ай бұрын
@cbisme6414
@cbisme6414 8 ай бұрын
Pontocerebella Hypoplasia with constrictures is what my first grandchild had... It soes matter what the differences are to the family, especially when the diagnosis is so rare. The wait for a diagnosis and then how to care for and what the future may hold, are all important information for the families.
@egmedicus
@egmedicus Жыл бұрын
Excellent
@asifbarkhiya250
@asifbarkhiya250 Жыл бұрын
Hi just come across this my son goes into coma they calling it channelopathy
@janeshipley6993
@janeshipley6993 11 ай бұрын
if so, see a neuromuscular medicine physician. good luck to you and your son.
@tinyphysician
@tinyphysician Жыл бұрын
Nice 🎉
@compulsiverambler1352
@compulsiverambler1352 Жыл бұрын
We aren't all children. Most of us are not, actually.
@haleydoe2279
@haleydoe2279 Жыл бұрын
Thank you for reading my medical history aloud on KZbin. I diagnoses for Psoriatic Arthritis, Crohns disease, Hashimotos, PMDD (I'm even on Lupron for the hormonal symptoms), chronic fatigue and joint pain, headaches, NAFLD, ADHD, Autism, gallbladder disease with cholecystectomy, hiatal hernia, GERD. I could go on. This is just wrapped up in a beautiful bow for me. I've been attempting to research why I am so ill for so many years. I am only here because I wanted to know my mtDNA haplogroup. I'm screaming. Edit: the signs were all there. I'm only 4'10" tall. I'm angry this was never once considered.
@shuisin
@shuisin Жыл бұрын
Audio missing for the first ~9.5 minutes
@1aliveandwell
@1aliveandwell Жыл бұрын
Can patients use the website and check their genes tested on 23andme, ancestry....?
@Jointknight
@Jointknight Жыл бұрын
So what's the ratio of autism genetic vs non-genetic?
@muffinman1
@muffinman1 Жыл бұрын
informative as always.
@rhyothemisprinceps1617
@rhyothemisprinceps1617 2 жыл бұрын
32:12 TCL1A overexpressed in B cells
@tammysharonlorettastafford3376
@tammysharonlorettastafford3376 2 жыл бұрын
I have Russel Silver Syndrome and even though I am described as beautifully different I am still coming to terms with it
@georgebond7777
@georgebond7777 2 жыл бұрын
I agree you should be publishing negative and contradictory results but I doubt it very much you will on the subject of evolution. Sad state of affairs, peer reviewed papers have become a joke.
@digitalforensicsglobalsolu7966
@digitalforensicsglobalsolu7966 2 жыл бұрын
Very helpful
@tesssiegel5754
@tesssiegel5754 2 жыл бұрын
Use a real mike, not the one on your computer.
@timetraveller267
@timetraveller267 2 жыл бұрын
How many of these diseases are either only present in males or predominantly present in males? Thank you
@wildacastejon6598
@wildacastejon6598 2 жыл бұрын
Traducir en español puerto rico
2 жыл бұрын
Very good!!
@frankwilson1291
@frankwilson1291 3 жыл бұрын
All thanks to #DrBalogun on KZbin for curing my herpes with natural herbs 🌿
@catrinaashlynn3289
@catrinaashlynn3289 3 жыл бұрын
If by now you still having issues with herpes virus it means you haven't heard about Dr Ayomede on KZbin yet, what a great man with permanent cure for herpes viruses
@scottjohnson77
@scottjohnson77 3 жыл бұрын
Herpes herbal medicine received by patient, it is 100% legit , complete cure of herpes virus to 100% negative, kindly contact Doctor Oghede for HSV1&2 cure, HPV cure
@renukaprabhusankar9182
@renukaprabhusankar9182 3 жыл бұрын
Excellent. Loved this a lot
@ab2673
@ab2673 3 жыл бұрын
ma'am when I was kid I suffered from this disease
@minakshibaruah4948
@minakshibaruah4948 Жыл бұрын
But how did you recovered 😮
@byEFox
@byEFox 9 ай бұрын
@@minakshibaruah4948we have big heads lol
@agaragar21
@agaragar21 3 жыл бұрын
Wow ! ...that was amazing and informative !.........Thank you !😃
@nagehantikici2305
@nagehantikici2305 3 жыл бұрын
hello, i live in turkey, my son was diagnosed. Is it possible for you to convey what you said in Turkish?
@elifugurguler4459
@elifugurguler4459 3 жыл бұрын
Nagehan hanım benim oğlumda da aynı hastalıktan şüpheleniliyor test verdik sizinle iletişim kurmak isterim
@tommylatonia2550
@tommylatonia2550 3 жыл бұрын
My daughter once had Huntington disease, all thanks to doctor bharat who helped her get rid of this deadly disease with his herbal supplement.. Huntington disease is 100% curable with doctor bharat herbal medicine. f.r those having Huntington disease you can contact dr Bharat via [email protected]
@tommylatonia2550
@tommylatonia2550 3 жыл бұрын
My daughter once had Huntington disease,, all thanks to doctor bharat who helped her get rid of this deadly disease with his herbal supplement.. Huntington disease is 100% curable with doctor bharat herbal medicine. for those having Huntington disease you can contact dr Bharat via [email protected]
@childspecialist-dr.akumtos4383
@childspecialist-dr.akumtos4383 3 жыл бұрын
Helpful 👍
@bhargavi368
@bhargavi368 3 жыл бұрын
Woww.. That was great... Insight about genetics in concordance to tooth development!!! Thank u!! Nice presentation..
@ruchijha6422
@ruchijha6422 3 жыл бұрын
In anomaly scan of 20 week cerebllum size appears 18.3 is it normal???
@raison991
@raison991 Жыл бұрын
How is your baby’s mental health now? Thank you.
@myhealthmywealth1874
@myhealthmywealth1874 3 жыл бұрын
my 2 years daughter is involved in this disease , she is not able to walk or stand her skull structure is different from normal even she can not see. is it curable , and how many expenses ?
@tommylatonia2550
@tommylatonia2550 3 жыл бұрын
Read carefully, it's said that Huntington disease has no cure, yes with the western medication but not with herbal medicine, my daughter's situation made me to realize that with doctor Bharat herbal medicine it can be cured. In 2014 she experienced difficulty in concentrating, memory lapses and depression, at first I taught it was stressed from her place of work until I took her to hospital and the doctor made me to understand that it's juvenile Huntington disease because she is still in her late 20s, which she inherited from my late husband that died of the same disease, the doctor told me it has no cure, but gave her some medicine which I noticed that it has side effects, my daughter situation got worst each day that passes, she was the best at her place of work, now a shadow of her self because of this deadly disease, she speaks to herself often, she was really going insane, I do not want to lose my daughter the same way I lost her father, in 2018 I carried out research on internet and bumped into a comment of a lady that got cured of Huntington disease, without wasting time I contacted doctor Bharat whose name was mentioned in the comment, now is been 3 years my daughter is living her best life again, for those that have the disease or have any love one suffering from Huntington disease, contact doctor Bharat via [email protected] .
@winglam3382
@winglam3382 3 жыл бұрын
This is a comprehensive overview of the topic. Thanks for sharing, I learned a lot.
@3344stevo
@3344stevo 3 жыл бұрын
I've been tested muscle tissue biopsy to proof MELAS but social security decided i have somatic disorder..don't know when the government is gonna take this illness seriously and fund research for a cure
@flyingmorningdew
@flyingmorningdew 3 жыл бұрын
this is a great presentation on cis-regulatory evolution, thank you for uploading!
@mariajared9414
@mariajared9414 3 жыл бұрын
Read carefully, it's said that Huntington disease has no cure, yes with the western medication but not with herbal medicine, my daughter's situation made me to realize that with doctor Bharat herbal medicine it can be cured. In 2014 she experienced difficulty in concentrating, memory lapses and depression, at first I thought it was stressed from her place of work until I took her to hospital and the doctor made me to understand that it's juvenile Huntington disease because she is still in her late 20s, which she inherited from my late husband that died of the same disease, the doctor told me it has no cure, but gave her some medicine which I noticed that it has side effects, my daughter situation got worst each day that passes, she was the best at her place of work, now a shadow of her self because of this deadly disease, she speaks to herself often, she was really going insane, I do not want to lose my daughter the same way I lost her father, in 2018 I carried out research on internet and bumped into a comment of a lady that got cured of Huntington disease, without wasting time I contacted doctor Bharat whose name was mentioned in the comment, now is been 3 years my daughter is living her best life again, for those that have the disease or have any love one suffering from Huntington disease, contact doctor Bharat via [email protected]..
@pedineurorad
@pedineurorad 4 жыл бұрын
Amazing summary of the study.