TANGO2 Research Foundation
TANGO2 Research Foundation
  • Видео 109
  • Просмотров 390 240
22q & TANGO2 - Donna McDonald-McGinn
Donna is the Director of the 22q Center & Chief of the Genetic Counseling Section at Children's Hospital of Philadelphia, also serving as Professor at the University of Pennsylvania. As Chair of the 22q11.2 Society and a Founding Board member of the International 22q11.2 Foundation, she leads global initiatives, focusing on chromosome 22q11.2 copy number variants. With over 350 publications, including a textbook, she specializes in understanding outcomes in patients with chromosome 22q11.2 deletions and variants, particularly TANGO2 Deficiency Disorder. Donna currently serves as a member of the T2RF's Scientific Advisory Board.
This talk, from our 2024 Family conference in Orlando, examine...
Просмотров: 139

Видео

Meet our Holiday Ambassador Family, the Cohens!
Просмотров 76Месяц назад
Meet Our Holiday Ambassador Family, Dave and Sandi Cohen and their daughter, Bec, a TANGO2 Warrior. Bec and her family have seen so much improvement since increasing B vitamin dosage, and have found comfort in the support of the TANGO2 community. Individuals like Bec are counting on us to find treatments and a cure. Every dollar donated has a huge impact on individuals and families, like the Co...
"Can We Fix It?" by Kasha Morris
Просмотров 1013 месяца назад
This is a story about fixing an impossible problem in an unexpected way. Kasha Morris is a retired teacher that co-founded the TANGO2 Research Foundation with her husband Mike in 2018 after a fifteen-year diagnostic journey for their son Ryan. Faced with the reality of a life-limiting ultra rare genetic condition they got to work to help their son. Although TANGO2 was newly discovered, their se...
Panel Presentation - Building Blocks for a Cure: Clinical Trial Readiness in TDD
Просмотров 1154 месяца назад
Panel Presentation - Building Blocks for a Cure: Clinical Trial Readiness in TANGO2 Deficiency Disorder, Christina Miyake, MD, MS, Charlotte Engebrecht, BS, Madeline Chadehumbe, MD Dr. Christina Miyake is a pediatric cardiologist/electrophysiologist and the Director of the Cardiovascular Genetics Arrhythmia Program. She has been helping lead the Natural History Study of TANGO2 Deficiency Disord...
Natural History Study Update & Next Steps, Christina Miyake, MD, MS
Просмотров 1194 месяца назад
Natural History Study Update & Next Steps, Christina Miyake, MD, MS Dr. Christina Miyake is a pediatric cardiologist/electrophysiologist and the Director of the Cardiovascular Genetics Arrhythmia Program. She has been helping lead the Natural History Study of TANGO2 Deficiency Disorder. Her work focuses on better understanding this disease from all aspects - clinical, bench research, family and...
TANGO2 Talk, featuring Leah Engbrecht, a Behavior Coach
Просмотров 714 месяца назад
TANGO2 Talk from August 10, 2024, featuring Leah Engbrecht, a Behavior Coach from the Del Mar Union School District. Behavior management is a crucial topic for parents of children at every age, and Leah will provide valuable tips and insights. SUBSCRIBE to the TANGO2 Research Foundation RUclips channel for more videos. About the TANGO2 Research Foundation: Our mission is to lead the way in find...
Panel Presentation - Heart to Heart: Understanding Cardiac Challenges in TANGO2 Deficiency Disorder
Просмотров 544 месяца назад
Panel Presentation - Heart to Heart: Understanding Cardiac Challenges in TANGO2 Deficiency Disorder with Joshua Meisner, MD, PhD, Cheyenne Beach, MD, Giorgio Pochettino Dr. Meisner is a pediatric cardiologist and early stage physician scientist at the University of Michigan with a clinical focus in cardiovascular genetics. He has a translational laboratory studying rare disease causes of pediat...
Panel Presentation - Navigating Movement Disorders associated with TDD
Просмотров 424 месяца назад
Panel Presentation - Navigating Movement Disorders associated with TDD: The Vital Role of a Movement Specialist & Families in Diagnosis & Treatment with Samuel Mackenzie, MD, PhD, Emily Uduezue, OTD, OTR/L, Kara Cameron Dr. Mackenzie is a physician scientist at the University of Rochester Medical Center where he treats patients with genetic neuromuscular diseases and oversees a lab comprised of...
Panel Presentation - Empowering the TANGO2 Community: Strength in Support
Просмотров 354 месяца назад
Empowering the TANGO2 Community: Strength in Support with Amanda Hull, PhD, Vanni Le, MS, & Ronda Thorington, LPC Amanda Hull is from Suffolk in England. She and husband, Daniel, have three boys; Joe, Sebby and Walter. Sebby is a 13-year-old diagnosed with TANGO2 Deficiency Disorder. Amanda has worked as an Educational Psychologist for the past 18 years, and Daniel is a farmer. They live on a f...
2024 Shine a Light on TANGO2 Celebration at TANGO2 Family Conference
Просмотров 164 месяца назад
2024 Shine a Light on TANGO2 Celebration at TANGO2 Family Conference featuring our 2024 Ambassador Family, the Driffill Family, Cycle 4 awardees, TANGO2 Emerging Researcher Awardees, TANGO2 Champion Awardee and more! SUBSCRIBE to the TANGO2 Research Foundation RUclips channel for more videos. About the TANGO2 Research Foundation: Our mission is to lead the way in finding a cure for TANGO2 relat...
B-Vitamins and Beyond with Nourhan Suleiman, RDN, LD
Просмотров 1,6 тыс.4 месяца назад
B-Vitamins and Beyond with Nourhan Suleiman, RDN, LD
TANGO2 functions in the pathway of Acyl-CoA metabolism with Agustin Lujan, MD, PhD
Просмотров 1974 месяца назад
TANGO2 functions in the pathway of Acyl-CoA metabolism with Agustin Lujan, MD, PhD
Towards an understanding of the function of TANGO2 with Michael Sacher, PhD
Просмотров 3724 месяца назад
Towards an understanding of the function of TANGO2 with Michael Sacher, PhD
PCOR/CER & its Importance in the Rare Disease Community with Courtney Clyatt, MPH
Просмотров 784 месяца назад
PCOR/CER & its Importance in the Rare Disease Community with Courtney Clyatt, MPH
Zebrafish Models of TANGO2 deficiency for preclinical studies of TANGO2 Deficiency Disorder
Просмотров 334 месяца назад
Zebrafish Models of TANGO2 deficiency for preclinical studies of TANGO2 Deficiency Disorder
Investigating TANGO2-Deficiency Disorder Phenotype and Mechanism in a C. elegans Model
Просмотров 2744 месяца назад
Investigating TANGO2-Deficiency Disorder Phenotype and Mechanism in a C. elegans Model
TANGO2 Basics with Seema Lalani, MD
Просмотров 1145 месяцев назад
TANGO2 Basics with Seema Lalani, MD
Keynote: From Athlete, to Patient, to Advocate with Rob Long, MS
Просмотров 95 месяцев назад
Keynote: From Athlete, to Patient, to Advocate with Rob Long, MS
A doctor's discovery ignites a child's legacy
Просмотров 436 месяцев назад
A doctor's discovery ignites a child's legacy
Beyond the diagnosis: a doctor's heartfelt recollection of heartbreak to hope
Просмотров 846 месяцев назад
Beyond the diagnosis: a doctor's heartfelt recollection of heartbreak to hope
2024 Shine a Light on TANGO2 Celebration Participant Recap
Просмотров 666 месяцев назад
2024 Shine a Light on TANGO2 Celebration Participant Recap
Igniting Hope Through Research
Просмотров 486 месяцев назад
Igniting Hope Through Research
Uncharted youth: caregiving in the teen years
Просмотров 406 месяцев назад
Uncharted youth: caregiving in the teen years
Nurturing Gratitude: A Journaling Guide for TANGO2 Caregivers
Просмотров 246 месяцев назад
Nurturing Gratitude: A Journaling Guide for TANGO2 Caregivers
Between hope and fear: facing a potential diagnosis with a new pregnancy
Просмотров 496 месяцев назад
Between hope and fear: facing a potential diagnosis with a new pregnancy
Rare Care: Reducing Distress & Embracing Well-being
Просмотров 246 месяцев назад
Rare Care: Reducing Distress & Embracing Well-being
Patient Journey Stories [Part Five]: Metabolic Crisis & Impact
Просмотров 548 месяцев назад
Patient Journey Stories [Part Five]: Metabolic Crisis & Impact
Patient Journey Stories [Part Six]: Sibling Symptom Variability
Просмотров 568 месяцев назад
Patient Journey Stories [Part Six]: Sibling Symptom Variability
Patient Journey Stories [Part Four]: Early Diagnosis
Просмотров 278 месяцев назад
Patient Journey Stories [Part Four]: Early Diagnosis
Patient Journey Stories [Part Three]: 22q & TANGO2
Просмотров 498 месяцев назад
Patient Journey Stories [Part Three]: 22q & TANGO2

Комментарии

  • @MysticMandy3
    @MysticMandy3 9 дней назад

    God lord I pray over this child in your name amen 🙏

  • @Sofiaaijuvik
    @Sofiaaijuvik Месяц назад

    😢

  • @ベジタリアン凸医療阿片合法

    It looks just like the scene when the animal is slaughtered.May be she killed animals in past life.Or the cause is meat eating.

  • @dustinh4175
    @dustinh4175 Месяц назад

    I felt that sigh

  • @AustinTheKingRapper
    @AustinTheKingRapper 2 месяца назад

    What is that over her head

  • @KittysAreCute
    @KittysAreCute 2 месяца назад

    Sound starts at 0:30

  • @KittysAreCute
    @KittysAreCute 2 месяца назад

    Sound starts at 0:50

  • @ClareBoyd-f8c
    @ClareBoyd-f8c 4 месяца назад

    Young Patricia Gonzalez Edward Martin David

  • @군주-b9v
    @군주-b9v 4 месяца назад

    Smith Sarah Wilson Amy Davis Betty

  • @ClareBoyd-f8c
    @ClareBoyd-f8c 4 месяца назад

    Williams Scott Miller Richard Johnson Frank

  • @RoyVowels
    @RoyVowels 4 месяца назад

    I have grand mal seizures too. So sorry for your baby 😢

  • @merryem68
    @merryem68 4 месяца назад

    🫤

  • @Suhel2409
    @Suhel2409 5 месяцев назад

    Please provide recommendations for treating cerebellar ataxia or "drunken gait" in India, particularly in Bangalore, with suitable for a 26-year-old. Any suggestions or advice would be appreciated.

  • @Танюша.8565
    @Танюша.8565 6 месяцев назад

    Allah'ım kızıma ve bütün bu bebeklerimize acil şifalar ver yarabbim, çok zor zok kalbim dayanmıyor artık bunları görmeye , yarabbim sabır ver bize evlatlarımıza şafi ismiyle şifa ver🙏

  • @kaitlynfryar6429
    @kaitlynfryar6429 6 месяцев назад

    Thank you for sharing.

  • @kaitlynfryar6429
    @kaitlynfryar6429 6 месяцев назад

    Thank you Ann and Dr. Mackenzie!

    • @TANGO2ResearchFoundation
      @TANGO2ResearchFoundation 6 месяцев назад

      Our pleasure. Thank you for listening and supporting our channel and Foundation!

  • @vanessaramirez9870
    @vanessaramirez9870 6 месяцев назад

    ❤❤❤❤❤❤

  • @naveenraj6984
    @naveenraj6984 6 месяцев назад

    ACTH > Vigabatrine

  • @caseyelfjones
    @caseyelfjones 8 месяцев назад

    My son has intractable epilepsy. It’s so sad when they have a seizure and there’s nothing you can do but keep them safe from injury. God bless this little one and all who have epilepsy.

  • @raccoons4483
    @raccoons4483 8 месяцев назад

    Why is my son there?

  • @Tylerthecreatorisanicon
    @Tylerthecreatorisanicon 9 месяцев назад

    She got the mma helmet on

  • @marthagutierrez8009
    @marthagutierrez8009 9 месяцев назад

    As a parent with adult son suffering suddenly from this. My heart hurts for this child. Healing prayers

  • @thomasclark7187
    @thomasclark7187 9 месяцев назад

    Lmao

  • @jenniferculipher4058
    @jenniferculipher4058 10 месяцев назад

    Poor baby 😢

  • @VeganBitch69
    @VeganBitch69 10 месяцев назад

    Ghit Laggin' FR

  • @peterkorpotkin6320
    @peterkorpotkin6320 10 месяцев назад

    Inshallah! She will persevere and prevail

  • @jillerickson3112
    @jillerickson3112 11 месяцев назад

    I love you Hannah and I'm so sorry you have to go through this you're not alone

  • @ujjalshrestha5469
    @ujjalshrestha5469 11 месяцев назад

    I have seizures too get well soon baby

  • @PhindileNgqothweni
    @PhindileNgqothweni 11 месяцев назад

    Prayers for your family, I know how much pain this can cause, we are currently going through it, started when my daughter had covid at 5 months and shes two years now. Praying for your daughter's full recovery.

  • @josh_7569
    @josh_7569 11 месяцев назад

    That is heartbreaking

  • @susanjohn6457
    @susanjohn6457 11 месяцев назад

    God Bless you dear❤

  • @DwayneBlocker-b7k
    @DwayneBlocker-b7k 11 месяцев назад

    I feel sooooo bad 🥺🥺🥺🥺🥺🥺

  • @lindabrown9541
    @lindabrown9541 Год назад

    AWWWWW BLESS HIS HEART

  • @Ryo
    @Ryo Год назад

    Lmfao 😂😂😂

  • @nibru8724
    @nibru8724 Год назад

    Faking for attention. If not your bad for letting that live

  • @workslob
    @workslob Год назад

    Youll be ok kidder.

  • @RobertDW1
    @RobertDW1 Год назад

    I was diagnosed with Epilepsy when I was 2 and had a Brain Tumor surgically removed when I was 8. 23 almost 24 years seizure free. Does she have a Tumor?

  • @NormaveronicaRODRIGUEZ-sb5uu

    ya no salvar el bebé spasmas,

  • @Ariapoohgi
    @Ariapoohgi Год назад

    I feel bad so this what it look like when I was little having a seizure 😢

  • @SaystheTruth3
    @SaystheTruth3 Год назад

    Poor baby ❤ God bless

  • @greenalien3857
    @greenalien3857 Год назад

    Isn't it dangerous to have a soother in his mouth, What if he chokes or so?

    • @infinitypiper6255
      @infinitypiper6255 Месяц назад

      I'm sure it's ok. I doubt it's big enough to go down the childs throat or else they would not be given to babies in the first place. But even so, dad is watching over him and he is in a building filled with medical professionals that can aid in any way. At this point the little bit of comfort and soothing he can have is probably worth it.

  • @jessicaproctor1260
    @jessicaproctor1260 Год назад

    Praying 🙏

  • @LeeAdventures5
    @LeeAdventures5 Год назад

    That's actually not a seizure The parents are giving that child Sexual Pleasuring Some kind of toys

  • @leannarichards314
    @leannarichards314 Год назад

    Poor baby I know how it feels my heart goes out to you. ❤

  • @FrancineKahn-hx4or
    @FrancineKahn-hx4or Год назад

    I am off seizure medicines are used to have absence seizures, and I think she would recover

  • @onezenman
    @onezenman Год назад

    this happens to me once or twice a month , do you know this happens?

  • @SausageSideways
    @SausageSideways Год назад

    Thank you for showing us your little boys gait. It has helped me get help for my son ❤

  • @Niceface88
    @Niceface88 Год назад

    Why is your hand there?

    • @dania277
      @dania277 Год назад

      He's trying to keep her in recovery position (on her side) so that if she throws up, she won't choke

    • @MandySimLandy
      @MandySimLandy Год назад

      Yeah, but keeping her on her side isnt in between her crotch

  • @DavidRobinson-wy7lx
    @DavidRobinson-wy7lx Год назад

    Shark seizure?

    • @LeeAdventures5
      @LeeAdventures5 Год назад

      Actually it's orgasmic That's what's really going on with the girl It's a cover-up

  • @liljayDEO
    @liljayDEO Год назад

    GOT SEM DANCE MOVES 🕺