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Bardet Biedl Syndrome Foundation
Добавлен 26 май 2021
The Bardet Biedl Syndrome Foundation is a registered 501(c)3 non-profit agency that connects families and shares information on research, treatment and therapies for Bardet Biedl Syndrome (BBS). Follow along as we give the latest updates on BBS, hear from leading experts about cutting edge research, ask questions of doctors and specialists who have experience treating lots of people with BBS, and connect with and learn from other BBS families.
Advances in Treatment for Retinal Degeneration
Advances in Treatment for Retinal Degeneration |
Ben Shaberman, VP of Science Communications at the Foundation Fighting Blindness discusses advances in research on treatments for retinal degeneration regardless of the genetic causes.
Ben Shaberman, VP of Science Communications at the Foundation Fighting Blindness discusses advances in research on treatments for retinal degeneration regardless of the genetic causes.
Просмотров: 241
Видео
BBS Vision Loss and Retinitis Pigmentosa: What's the Difference?
Просмотров 15311 месяцев назад
BBS Foundation President Tim Ogden and VP of Science Communications at FFB delve into what it means to "have RP" and what that means for BBS families
Rocky Ride 2022
Просмотров 61Год назад
On Saturday, October 15th Nathanael and Tim Ogden will be riding again because the fight against BBS isn't over. Sponsor, ride or volunteer. Learn more at www.bardetbiedl.org/rockyride
Rocky Ride 2022
Просмотров 150Год назад
On Saturday, October 15th Nathanael and Tim Ogden will be riding again because the fight against BBS isn't over. Sponsor, ride or volunteer. Learn more at www.bardetbiedl.org/rockyride
BBS Foundation Summer 2022 Virtual Conference and Update
Просмотров 2232 года назад
BBS Foundation Summer 2022 Virtual Conference and Update
Rhythm Pharmaceutical: An Introduction to Imcivree
Просмотров 1,8 тыс.2 года назад
Rhythm Pharmaceutical provides important information about their recently approved treatment for obesity and extreme hunger in BBS
Dr. Jeremy Pomeroy: CRIBBS Update
Просмотров 1052 года назад
Dr. Pomeroy shares what we are learning from CRIBBS to improve BBS treatment and care.
Dr. Max Nachury: The BBSome--what is it, why does it matter, and how does it work?
Просмотров 2952 года назад
Dr. Nachury shares his work on the BBSome a group of BBS proteins that work together to enable cells to communicate with each other and what it means for understanding BBS.
Dr. Erica Davis: How are Discoveries Made in BBS Research
Просмотров 2652 года назад
Dr. Davis describes how researchers learn more about BBS.
Dr. Helen May-Simera: New Insights into BBS
Просмотров 1802 года назад
Dr. May-Simera shares what her lab is learning about how cells communicate and how BBS affects this important cellular function.
Rocky Ride 2021 | Don't Call It a Comeback
Просмотров 1172 года назад
The Rocky Ride is back! Join us on October 2nd or sponsor the ride at www.bardetbiedl.org/rockyride
We're Excited to Announce BBS Global Day!
Просмотров 2053 года назад
The Bardet Biedl Syndrome Foundation, in partner with other BBS organizations, is excited to announce the first-ever BBS Global Day on September 25! Take action and build awareness on our first-ever BBS Global Day. Join families from around the world as they raise funds for BBS research and support. 100% of funds will go to accelerate BBS research! The first 10 fundraisers to raise $1K will rec...
Dealing with Vision Loss
Просмотров 1063 года назад
2021 BBSFA Virtual Conference Series The Bardet Biedl Syndrome Foundation & Family Association is proud to present, Dealing with Vision Loss. Bardet Biedl Syndrome Foundation Website: www.bardetbiedl.org CRIBBS Registry: www.bbs-registry.org Vision Loss Resources: www.bardetbiedl.org/vision-loss-resources Questions? Contact Alexis Jones at alexis@bardetbiedl.org Thank you to Ellie DeLucia, Kris...
BBS Success Stories - Joy Ravenel
Просмотров 1573 года назад
2021 BBSFA Virtual Conference Series The Bardet Biedl Syndrome Foundation & Family Association is proud to present BBS Success Stories. Bardet Biedl Syndrome Foundation Website: www.bardetbiedl.org CRIBBS Registry: www.bbs-registry.org Questions? Contact Alexis Jones at alexis@bardetbiedl.org Thank you to Joy Ravenel & Ruth Dameron!
BBS Success Stories - Zachary Paff
Просмотров 1153 года назад
2021 BBSFA Virtual Conference Series The Bardet Biedl Syndrome Foundation & Family Association is proud to present BBS Success Stories. Bardet Biedl Syndrome Foundation Website: www.bardetbiedl.org CRIBBS Registry: www.bbs-registry.org Questions? Contact Alexis Jones at alexis@bardetbiedl.org Thank you to Zachary Paff!
Bardet Biedl Syndrome (BBS) Genetics
Просмотров 2,3 тыс.3 года назад
Bardet Biedl Syndrome (BBS) Genetics
Update on the Clinical Registry Investigating Bardet Biedl Syndrome (CRIBBS)
Просмотров 1563 года назад
Update on the Clinical Registry Investigating Bardet Biedl Syndrome (CRIBBS)
Thank you! We need to bring more awareness to the entire world about this rare genetic condition. PLEASE continue to conduct research about cilia or lack of within patients with BBS patients. We need to find treatments with gene therapies and replacements.
My brother has BBS, he'd lost his vision completely by the age of 14, he suffered 'night blindness, as a young child. He is currently dialysed three sessions each week with a view to home dialysis. He is thankfully on the transplant list :)
Is this disease can be cured? 😭
tucson may be a good spot
How can we get in touch
That's odd, my brother died in his 30s who had cystic fibrosis and I'm a remake adult in my fifties and was diagnosed firstbrith retinal pugmentisa 20years ago then last couple years diagnosed with retinal dysteopht and then Bardeta bidel. I have central vision loss, color blindness and work part time at a school in a speck Ed class as a aide but am having memory problems, some balance, foot pain am seeing a foot doc have been naikes but still ilhavujg pain. When walk around a store when get home my feet hurt so much that they numb and hurt and have yo get off them. My job and walk was too much and am having paun plus n Ed to get another job instead of this is too much stress and too much for me. Are there any docs for this baedet bidel in Glendale Az or Avondale that I can have my unit d healthcare primary doc refer me too. Also live alone but have fake near me live In trailer to move have roach probs and hone needs repairs don't have money to do these and need help getting rid of stuff I need help don't know what to do.my nam is Jamie Johnson. Will n dicare and Medicaid have help where can get someone to help me get my hom clean d and fixed. I need help al fifty eight years old and can only do a little bit at a time I also have debts only 1,500 from using Uber too much am using dial a ride para transit more even though it takes more than 30 minutes to an hour to get a ride sometimes or a lot.
Doing a brief presentation on BBS. Thanks for the overview.
What does conflicting mean on a genetic test results vs not applicable ?
If one parent Carries BBS7 and one Carries BBS10 and their child shows BBS7 & 10 on genetic test with one variant in each are they carriers or do they have BBS ?
"The basic answer is that the child is a carrier of 2 different BBS genes, but that does not mean that they have BBS. As far as we know, to be a carrier of two different BBS genes is not enough to cause the condition. The syndrome comes when a person has DNA variants (or changes) in both copies of a single particular BBS gene. That being said, there are common, uncommon, and unique DNA variants of each BBS gene. In a standard genetic test, the report will list whether the person has a DNA variant in a BBS gene that is known to cause the syndrome (“pathogenic" or "likely pathogenic"). You may also see that a person has a VUS or "variant of unknown significance" in a particular gene. This means that the copy of the gene is not what is known to be the normal version of that gene, but the DNA variant has not been proven to cause BBS. Unfortunately many genetic counselors sometimes will inform a patient or family that they "only have one copy" of a BBS gene and ignore a finding that the other copy is a "VUS". So to fully answer the question, you would need to confirm with the genetic counselor that the person in question has a "normal" copy of the BBS7 and BBS10 genes. If so, then the child is a carrier and does not have a genetic diagnosis of BBS with that information. If they do have a known BBS10 mutation and a VUS in the other copy of the gene, further specialized testing would be required to determine if that other mutation causes the syndrome. If the child has the clinical criteria for a BBS diagnosis, and the genetic test indicates carrier for each of BBS7 and BBS10, one other possibility could be that other causal DNA variant was not detected in this clinical test and should be referred to a genetics research study."
Can I get more information? Also where should we go for help with this? My son has this marked on DNA as well as SLS7.
Hi Carol, please email alexis@bardetbiedl.org and we'd be happy to connect and provide you with more resources.
I guess no one uses this medication 🤷🏾♀️ This is the only review I can find
See you all on October 15, 2022!
Fantastic talk and wonderful research. Thank you Helen May Simeera 👏
Thank you Dr Haws. I appreciate your explanations.
Thank you for that explanation!