- Видео 23
- Просмотров 154 699
Ultragenyx
США
Добавлен 20 ноя 2017
Ultragenyx is a biopharmaceutical company committed to bringing to market novel products for the treatment of rare and ultra-rare diseases, with a focus on serious, debilitating genetic diseases. Founded in 2010, the company has rapidly built a diverse portfolio of product candidates with the potential to address diseases for which the unmet medical need is high, the biology for treatment is clear, and for which there are no approved therapies.
Our focus is on improving the lives of patients who have no approved therapies for their diseases. Everyone in our company shares the same goal: delivering safe and effective therapies as quickly as possible to the people who need them.
Visit our community guidelines at: ultragenyx.co/community
Our focus is on improving the lives of patients who have no approved therapies for their diseases. Everyone in our company shares the same goal: delivering safe and effective therapies as quickly as possible to the people who need them.
Visit our community guidelines at: ultragenyx.co/community
Rare Bootcamp: Empowering Rare Disease Warriors for the Battle
People with #RareDiseases and their families are warriors - warriors who must overcome obstacles every day. And many are searching for new treatments.
For this reason, Ultragenyx and other sponsors invite members of the #RareDisease community to attend the Rare Bootcamp to prepare them for the battle ahead.
Watch our video and read our blog post to see how these warriors come together at the Rare Bootcamp: ultragenyx.co/3Jq2Euv
#RareStories
For this reason, Ultragenyx and other sponsors invite members of the #RareDisease community to attend the Rare Bootcamp to prepare them for the battle ahead.
Watch our video and read our blog post to see how these warriors come together at the Rare Bootcamp: ultragenyx.co/3Jq2Euv
#RareStories
Просмотров: 219
Видео
Access to Health Care: The North Carolina Newborn Screening Story
Просмотров 236Год назад
During the #AccessToHealthCare Women In Government webinar, North Carolina State Representative, Becky Carney, and Tara Britt, Founder and President of the Rare Disease Innovation Institute, discussed the life-saving impact of newborn screening. They touched on North Carolina's proactive steps to improve legislation and the state's efforts to ensure each condition listed on the Recommended Unif...
Living by Design: Amanda's Wilson Disease Story
Просмотров 10 тыс.Год назад
Wilson disease is a rare genetic disorder that results from the body's inability to remove excess copper, which is an essential dietary mineral. Too much copper can lead to liver disease as well as neurological issues. In this video, Rhonda Rowland, a former CNN medical correspondent who lives with Wilson disease, shares her experience being diagnosed and starting treatment while in college. Sh...
Life with TIO: Ann’s Story
Просмотров 2,1 тыс.Год назад
When Ann, a mother, wife, and college professor, noticed she was more tired than ever and getting weak after being active, she knew something wasn’t right. After seeing many specialists, Ann was diagnosed with tumor-induced osteomalacia (TIO). While her tumor(s) have not yet been found, she continues to have hope and advocate for herself.Also known as Oncogenic osteomalaciaoroncogenic hypophosp...
Gene Therapy: What Does It Mean for Rare Disease Communities?
Просмотров 1,1 тыс.Год назад
Gene therapy has the opportunity to be a long-term treatment for people living with rare diseases. Dr. Eric Crombez, Chief Medical Officer of Gene Therapy and Inborn Errors of Metabolism at Ultragenyx, joined Dr. Jeff Bronstein of UCLA Health and Dr. Cary Harding of Oregon Health & Science University in a Facebook Live discussion to better understand the potential benefit of gene therapy and wh...
LC-FAOD: A Global Community
Просмотров 6042 года назад
When you live with a rare disorder like an LC-FAOD, it can feel lonely. But you are not alone. Hear from members of the LC-FAOD community around the world about their experiences, how they manage the condition, and the importance of staying connected with others for support. Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare conditions that impair the body’s metabolism from...
Life with LC-FAOD: Tasia’s Story
Просмотров 1,4 тыс.2 года назад
Tasia lives with very long chain acyl-co A deficiency (VLCAD), a type of LC-FAOD. After being diagnosed, she was in denial at first, but she has learned to accept her condition, take ownership,and not let it define her. Tasia is proud to be a beacon of hope for young people living with a rare disease. Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare conditions that impair...
Managing FAOD Together: Michelle and Jake’s Story
Просмотров 4,2 тыс.2 года назад
About a week after her son, Jake, was born, doctors told Michelle that he had long-chain L-3 hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, a long-chain fatty acid oxidation disorder. The doctors explained that he would survive a few years at most if they were lucky. Fortunately, with the help of a metabolic specialist and a dietitian, Michelle learned that through diet, frequent feeding, an...
Regina: Rare Strength in Caring
Просмотров 2022 года назад
Meet Regina -mother, grandmother, and care partner to her daughter, Chelsi, and her grandson, Caiden, who both live with creatine transporter deficiency (CTD).Regina describes the impact of healthcare professionals and other rare community members helping along their journey with CTD. Also known as SLC6A8 deficiency, Creatine transporter defect, X-linked creatine deficiency syndrome, Creatine t...
Life with GSDIa: Jonah’s Story
Просмотров 10 тыс.2 года назад
Jonah was diagnosed withglycogen storage disease type Ia (GSDIa) shortly after he was born. Throughout his life, his parents diligently cared for him and learned what worked best along their journey. Glycogen storage disease type Ia (GSDIa) is a genetic disorder that results in the buildup of glycogen in the body’s cells and an inability to regulate and maintain normal blood sugar levels. It is...
Life with Osteogenesis Imperfecta: Cindy and Matthew’s Story
Просмотров 4,5 тыс.2 года назад
Matthew was diagnosed with osteogenesis imperfecta at birth. Since then, he and his mother, Cindy, have traveled around the country to find doctors who understand the condition. Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with OI have bones that fracture (break) easily, often from mild injury or with no clear cause. There are at least 19 rec...
Going beyond for Mason | Angelman syndrome (AS) (Full-Length Video)
Просмотров 25 тыс.2 года назад
At just three months old, Mason was diagnosed with Angelman syndrome when his parents took him in for genetic testing. This rare disease of the nervous system typically occurs in 1 in 15,000 births, and can cause movement and balance problems, as well as speech impairment and other symptoms. “I hope for the best life possible for my son and everyone in the Angelman syndrome community,” said M...
Going beyond for Levi | Duchenne muscular dystrophy (DMD) (Full-Length Video)
Просмотров 3,9 тыс.2 года назад
Luke and Lance help provide home healthcare for their little brother, Levi. When Levi lost the ability to walk, the brothers stepped up to help. Of the many things they do together, playing video games is one of their favorite activities. It is a way for them to bond and communicate. “It is just those little things you know that make the biggest differences,” said Luke. “They go a long way. I...
Life with XLH: Cheryl’s Story
Просмотров 1,7 тыс.2 года назад
When Cheryl was diagnosed with X-linked hypophosphatemia (XLH), a rare genetic condition, physicians told her parents that XLH was a childhood disease that would correct itself over time. Researchers now know that XLH is a progressive condition which requires life-long management. As an adult, Cheryl keeps active, and she’s found that having a positive attitude makes all the difference. X-linke...
Going beyond for Levi | Duchenne muscular dystrophy (DMD)
Просмотров 7 тыс.2 года назад
After repeatedly reaching developmental milestones late, Levi’s doctors diagnosed him with Duchenne muscular dystrophy. This is his story. Visit ultrarareadvocacy.com/ to learn more about Ultragenyx’s patient advocacy for rare and ultra-rare diseases.
Going beyond for Mason | Angelman syndrome (AS)
Просмотров 9 тыс.2 года назад
Going beyond for Mason | Angelman syndrome (AS)
Ultragenyx is building a gene therapy plant
Просмотров 1,6 тыс.2 года назад
Ultragenyx is building a gene therapy plant
Quick Tip Caring for Yourself While Caring for Others
Просмотров 4664 года назад
Quick Tip Caring for Yourself While Caring for Others
Wow what a process! Great family!
I hope they find a cure for this.
Thank you.
Start a kickstarter campaign to raise money for your cause!
Brave family! Thank you for the informative video. Stay strong! ❤
What a beautiful family. Wonderful, mature, intelligent kid.
Death is for ALL………POOR RICH……GREAT AND SMALL…….BE HAPPY …..HAVE FUN…….WITH YOUR LOVED ONES…..AND ….JESUS…..WILL DO THE REST……ONLY GOD IS GOOD…..THANKS JC…..AND KEEP THEM SAFE ALWAYS…..ITS BEAUTIFUL
Don't EVER take funding from a government "sponsor"! Anyone who would virtually DESTROY THE WORLD to remedy colds and flu will NEVER BE a "health partner"!
Would be great if you could find a cure for multiple sclerosis and ALS
Those aren't rare.
@@jackabug2475 ALS is classified rare. Many people die from MS every year. There are no cures and the few treatments for MS and ALS don’t help much at all. This doctor picks low hanging fruit to treat and cure. My point was it would be great if a cure could be found for these diseases.
@@luvteddybearsforever Those have already been studied a fair bit. If there was a simple cure it would have been found already. It will take a lot more research to find cures for either of them. One of the things about super rare diseases is sometimes the cure is somewhat difficult to find but not actually extremely difficult, it's more that it's so rare so there aren't already many teams of people all over the world looking for a cure for that specific disease for decades. So a comparatively smaller amount of effort may actually be enough to find a cure for some of them.
It would be even better if vaccines didn't cause these autoimmune diseases to begin with.
Yes it would. If they would work on it as hard as they did with COVID.
Rare Disease families lead the way even though there is no path yet. Very inspirational!
Ryan is the perfect combo of both his Mom and Dad...a loving living miracle
Gorgeous son. Mature and well spoken.
Remember to Thumbs Up 👆
Never heard of this till today
Remember to Thumbs Up 👆
Good Luck to Ryan
Never heard of this!
start a kickstarter crowd funding page!
❤
Thank you that information I have never heard of that disease and your great patarents and you have a amazing responsible son
I want to personally take time out to appreciate Dr Igudia on his RUclips channel for the herbs medication I ordered from him in curing my type 2 diabetes disease completely within just three weeks of using his natural herbs supplements
Saludos desde Ecuador
Which country is best for treatement
Prakash - Thank you for your question. Please contact your doctor if you have questions regarding Duchenne. To learn more about Duchenne, you can also visit www.UltraRareAdvocacy.com or contact patientadvocacy@ultragenyx.com.