European Society of Human Genetics
European Society of Human Genetics
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Відео

PL05.1 - ESHG Award Lecture
Переглядів 104Місяць тому
PL05.1 - ESHG Award Lecture
PL02.2 - Analysis of over 800,000 diverse sequenced humans in gnomAD v4
Переглядів 132Місяць тому
PL02.2 - Analysis of over 800,000 diverse sequenced humans in gnomAD v4
E10.1 - Delivering targeted therapies for hereditary cancers
Переглядів 63Місяць тому
E10.1 - Delivering targeted therapies for hereditary cancers
E10.2 - Therapeutic Implications of Paired Tumor-Normal Genetic Testing
Переглядів 41Місяць тому
E10.2 - Therapeutic Implications of Paired Tumor-Normal Genetic Testing
E09.1 - Impact of developmental disorder associated variants in the general population
Переглядів 122Місяць тому
E09.1 - Impact of developmental disorder associated variants in the general population
E09.2 - Phenotypic effects of genetic variants associated with autism
Переглядів 57Місяць тому
E09.2 - Phenotypic effects of genetic variants associated with autism
E08.1 - Phenotypic spectrum of Fetal akinesia deformation sequence
Переглядів 57Місяць тому
E08.1 - Phenotypic spectrum of Fetal akinesia deformation sequence
PL03.6 - Decoding ALG13-CDG: multi-omics profiling of ALG13-CDG brain organoids reveals distinct...
Переглядів 26Місяць тому
PL03.6 - Decoding ALG13-CDG: multi-omics profiling of ALG13-CDG brain organoids reveals distinct...
PL03.3 - A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat...
Переглядів 48Місяць тому
PL03.3 - A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat...
PL03.2 - All by All of Us: common and rare variant association testing in 250,000 whole genomes...
Переглядів 47Місяць тому
PL03.2 - All by All of Us: common and rare variant association testing in 250,000 whole genomes...
PL03.5 - Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Переглядів 24Місяць тому
PL03.5 - Understanding the genetic complexity of puberty timing across the allele frequency spectrum
PL03.1 - Zero Childhood Cancer National Precision Medicine Program: Improving outcomes for child...
Переглядів 15Місяць тому
PL03.1 - Zero Childhood Cancer National Precision Medicine Program: Improving outcomes for child...
E07.2 - The Care Under Pressure experience
Переглядів 16Місяць тому
E07.2 - The Care Under Pressure experience
E07.1 - Raising awareness for the Mental Health of early career researchers
Переглядів 21Місяць тому
E07.1 - Raising awareness for the Mental Health of early career researchers
E08.2 - Genomics of arthrogryposis multiplex congenita
Переглядів 43Місяць тому
E08.2 - Genomics of arthrogryposis multiplex congenita
E05.1 - Next generation cytogenetics by optical genome mapping
Переглядів 85Місяць тому
E05.1 - Next generation cytogenetics by optical genome mapping
E04.1 - Radiographic clues for the diagnosis of Genetic Skeletal Disorders
Переглядів 46Місяць тому
E04.1 - Radiographic clues for the diagnosis of Genetic Skeletal Disorders
E03.1 - What is Human-Centered Artificial Intelligence? Exploring its Potential in Facial Genetics
Переглядів 80Місяць тому
E03.1 - What is Human-Centered Artificial Intelligence? Exploring its Potential in Facial Genetics
E02.2 - Clonal Mosaicism in Sperm
Переглядів 70Місяць тому
E02.2 - Clonal Mosaicism in Sperm
E11.2 - Gender Affirming Genetics Practices
Переглядів 19911 місяців тому
E11.2 - Gender Affirming Genetics Practices
E07.1 - Pharmacogenetics: Overview, genetic diversity and opportunities to improve patient outcomes
Переглядів 351Рік тому
E07.1 - Pharmacogenetics: Overview, genetic diversity and opportunities to improve patient outcomes
PL02.2 - Height as a model trait in human complex trait genetics
Переглядів 183Рік тому
PL02.2 - Height as a model trait in human complex trait genetics
PL04.1 - Mendel Award Lecture: DNA: what is it trying to tell us?
Переглядів 186Рік тому
PL04.1 - Mendel Award Lecture: DNA: what is it trying to tell us?
E13.2 - Evolution of somatic mutation rates
Переглядів 177Рік тому
E13.2 - Evolution of somatic mutation rates
PL02.1 - Terrestrial and extraterrestrial genomics and multiomics
Переглядів 108Рік тому
PL02.1 - Terrestrial and extraterrestrial genomics and multiomics
E07.2 - Preventing Adverse Drug Reactions in the European citizens: results from the PREPARE study
Переглядів 103Рік тому
E07.2 - Preventing Adverse Drug Reactions in the European citizens: results from the PREPARE study
E04 .1 - Pleiotropic associations: methods and insights
Переглядів 238Рік тому
E04 .1 - Pleiotropic associations: methods and insights
E08.2 - A cutting edge approach to returning genomic results
Переглядів 108Рік тому
E08.2 - A cutting edge approach to returning genomic results
E08.1 - Do we need to adopt a cautious approach to returning results from genomic research?
Переглядів 89Рік тому
E08.1 - Do we need to adopt a cautious approach to returning results from genomic research?

КОМЕНТАРІ

  • @secilkaracakurtulmus9262
    @secilkaracakurtulmus9262 Місяць тому

    Thank you for the informative session

  • @richardarrow3691
    @richardarrow3691 2 місяці тому

    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 3 місяці тому

    What is the difference between Karyomapping and "conventional PGD" / PGT-A?

  • @anmolpardeshi3138
    @anmolpardeshi3138 3 місяці тому

    horrible audio! :(

    • @anmolpardeshi3138
      @anmolpardeshi3138 3 місяці тому

      also (at 1249) mQTL can also be reserved for methylation QTL which also highlights that "methylome" isnt included in that omics paradigm.

  • @jacobmatthewseymour
    @jacobmatthewseymour 4 місяці тому

    Brilliant. Glad this work is getting out. We need very comprehensive efforts towards identifying the extent of statin-related morbidity.

  • @kylealexander593
    @kylealexander593 4 місяці тому

    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 5 місяців тому

    Erlich is a fascist that has sent death threats to politicians and has called israel "rhodesia with nukes" as a compliment

  • @Illaexur
    @Illaexur 5 місяців тому

    thank you for the information

  • @sunnyyoda
    @sunnyyoda 6 місяців тому

    very nice and simply explained, loved the presentation

  • @Beverly-e4z
    @Beverly-e4z 6 місяців тому

    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 місяців тому

    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_ 8 місяців тому

    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 місяців тому

  • @cbisme6414
    @cbisme6414 9 місяців тому

    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 Рік тому

    Excellent

  • @asifbarkhiya250
    @asifbarkhiya250 Рік тому

    Hi just come across this my son goes into coma they calling it channelopathy

    • @janeshipley6993
      @janeshipley6993 11 місяців тому

      if so, see a neuromuscular medicine physician. good luck to you and your son.

  • @tinyphysician
    @tinyphysician Рік тому

    Nice 🎉

  • @compulsiverambler1352
    @compulsiverambler1352 Рік тому

    We aren't all children. Most of us are not, actually.

  • @haleydoe2279
    @haleydoe2279 Рік тому

    Thank you for reading my medical history aloud on UA-cam. 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 Рік тому

    Audio missing for the first ~9.5 minutes

  • @1aliveandwell
    @1aliveandwell Рік тому

    Can patients use the website and check their genes tested on 23andme, ancestry....?

  • @Jointknight
    @Jointknight Рік тому

    So what's the ratio of autism genetic vs non-genetic?

  • @muffinman1
    @muffinman1 Рік тому

    informative as always.

  • @rhyothemisprinceps1617
    @rhyothemisprinceps1617 2 роки тому

    32:12 TCL1A overexpressed in B cells

  • @tammysharonlorettastafford3376
    @tammysharonlorettastafford3376 2 роки тому

    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 роки тому

    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 роки тому

    Very helpful

  • @tesssiegel5754
    @tesssiegel5754 2 роки тому

    Use a real mike, not the one on your computer.

  • @timetraveller267
    @timetraveller267 2 роки тому

    How many of these diseases are either only present in males or predominantly present in males? Thank you

  • @wildacastejon6598
    @wildacastejon6598 2 роки тому

    Traducir en español puerto rico

  •  2 роки тому

    Very good!!

  • @frankwilson1291
    @frankwilson1291 3 роки тому

    All thanks to #DrBalogun on UA-cam for curing my herpes with natural herbs 🌿

  • @scottjohnson77
    @scottjohnson77 3 роки тому

    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 роки тому

    Excellent. Loved this a lot

  • @ab2673
    @ab2673 3 роки тому

    ma'am when I was kid I suffered from this disease

    • @minakshibaruah4948
      @minakshibaruah4948 Рік тому

      But how did you recovered 😮

    • @byEFox
      @byEFox 10 місяців тому

      @@minakshibaruah4948we have big heads lol

  • @agaragar21
    @agaragar21 3 роки тому

    Wow ! ...that was amazing and informative !.........Thank you !😃

  • @nagehantikici2305
    @nagehantikici2305 3 роки тому

    hello, i live in turkey, my son was diagnosed. Is it possible for you to convey what you said in Turkish?

    • @elifugurguler4459
      @elifugurguler4459 3 роки тому

      Nagehan hanım benim oğlumda da aynı hastalıktan şüpheleniliyor test verdik sizinle iletişim kurmak isterim

  • @tommylatonia2550
    @tommylatonia2550 3 роки тому

    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 dr.bharatkings@gmail.com

  • @tommylatonia2550
    @tommylatonia2550 3 роки тому

    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 dr.bharatkings@gmail.com

  • @childspecialist-dr.akumtos4383
    @childspecialist-dr.akumtos4383 3 роки тому

    Helpful 👍

  • @bhargavi368
    @bhargavi368 3 роки тому

    Woww.. That was great... Insight about genetics in concordance to tooth development!!! Thank u!! Nice presentation..

  • @ruchijha6422
    @ruchijha6422 3 роки тому

    In anomaly scan of 20 week cerebllum size appears 18.3 is it normal???

    • @raison991
      @raison991 Рік тому

      How is your baby’s mental health now? Thank you.

  • @myhealthmywealth1874
    @myhealthmywealth1874 3 роки тому

    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 роки тому

    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 dr.bharatkings@gmail.com .

  • @winglam3382
    @winglam3382 3 роки тому

    This is a comprehensive overview of the topic. Thanks for sharing, I learned a lot.

  • @3344stevo
    @3344stevo 3 роки тому

    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 роки тому

    this is a great presentation on cis-regulatory evolution, thank you for uploading!

  • @mariajared9414
    @mariajared9414 3 роки тому

    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 dr.bharatkings@gmail.com..

  • @pedineurorad
    @pedineurorad 4 роки тому

    Amazing summary of the study.

  • @daringarcia468
    @daringarcia468 4 роки тому

    Great info. Thanks. Needs better audio next time.