We're thrilled to introduce Dr. Adriana Gomes, the first recipient of the Jacob Pritzker Fellowship! Adriana is a Genetics fellow at University of California San Diego/Rady Children's Hospital-San Diego, with a background in pediatrics and clinical research. She is actively involved as a co-investigator in the Angelman Syndrome Natural History Study and industry-sponsored clinical trials, working to develop innovative therapeutic approaches. Beyond research, Dr. Gomes is deeply committed to patient advocacy, serving as the Medical Director of the Angelman Syndrome Brasil Association, where she works to improve awareness, support, and resources for families living with AS worldwide. Her passion for bridging research and patient care is already making a difference, and we can’t wait to see the impact she will have on the AS community! Join us in celebrating Dr. Gomes and this milestone for the future of clinical care in Angelman syndrome.
关于我们
Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births. AS is often misdiagnosed as cerebral palsy or autism due to lack of awareness. Characteristics of the disorder include developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman syndrome will require life-long care. Because of its genetic relationship to autism and other disorders, many researchers believe that curing Angelman syndrome will lead to cures for similar disorders. Angelman syndrome research is on the cusp of potential treatments to reverse the debilitating symptoms of Angelman syndrome. The Angelman Syndrome Foundation raises funds for Angelman syndrome research and supports families. Use this website to keep abreast of current information regarding research, education, general information and therapies for Angelman syndrome. If you have any questions or would like additional information please email the ASF at [email protected].
- 网站
-
https://www.angelman.org
Angelman Syndrome Foundation的外部链接
- 所属行业
- 个人和家庭福利保障
- 规模
- 2-10 人
- 总部
- Aurora，Illinois
- 类型
- 非营利机构
地点
-
主要
获取路线
75 Executive Drive
Suite 327
US，Illinois，Aurora，60504
Angelman Syndrome Foundation员工
动态
-
New ASF Podcast Episode! Filmmaker Amber Sealey joins the podcast to talk about her Disney+ film, Out of My Mind and the power of authentic disability representation in media. They dive into: ? Why disability representation matters in film & TV ? Presuming competence in nonverbal individuals ? The realities of caregiving & why every story deserves to be told Listen on Spotify, Apple & YouTube Podcasts!
-
New ASF Funded Research! Movement disorders significantly impact the daily lives of individuals with Angelman syndrome. These disorders require better characterization and classification to develop effective treatments. Through a multi-site study involving 120 individuals across four leading medical centers, researchers aim to establish a comprehensive understanding of these movement challenges. By creating a video library reviewed by movement disorder experts, the study will provide essential tools for diagnosing and tracking these disorders. The findings from this research will enhance clinical care, inform therapeutic development, and offer new ways to measure the effectiveness of emerging treatments—ultimately improving the quality of life for individuals with Angelman syndrome.
-
-
New ASF Funded Research! Mark Zylka's lab at UNC Chapel Hill has developed a revolutionary tool to accurately measure UBE3A activity. Around 10% of Angelman syndrome cases are caused by specific changes in the UBE3A gene, but many of these genetic variants are classified as "uncertain" or "conflicting," making it difficult for doctors to determine their impact. By bridging the gap between genetic testing and clinical care, this biosensor tool offers new hope for understanding and managing UBE3A-related conditions. More info: https://bit.ly/4gBh1Lc
-
-
Registration is now open for Angelman Strong. ?? Find your location and register today. Save $5 on all fees AND all individuals with Angelman syndrome will be entered to win a fat head. Check your location for details and partnership opportunities! ?? https://lnkd.in/gVUnsKwP #walkforangelman #Angelmanstrong #angelmansyndromefoundation
-
-
Today, we want to share an important update regarding the Externally-Led PFDD meeting on Angelman syndrome scheduled for January 29, 2025. ? Due to ongoing transition activities under the new administration and new directives for the Department of Health and Human Services (HHS), FDA employees are unable to attend external meetings at this time. Unfortunately, this directive includes our upcoming EL-PFDD meeting on Wednesday, January 29, 2025. We have made the difficult decision to postpone the meeting to ensure it achieves the impact it deserves.? ? Read more: https://lnkd.in/gKxdJ7Kw
-
-
The ASF and FAST are excited to announce their partnership with the Institute for Gene Therapies (IGT)!? ?? IGT brings together experts from all areas of healthcare to push for updated policies that help patients get available therapeutical treatments and encourage medical innovation. Gene therapies are cutting-edge treatments that could offer lasting benefits with just a single dose. Yet, as scientific advancements outpace policy updates, it will become challenging for patients to access these groundbreaking therapies.? ?? By teaming up with IGT, its Corporate Advisory Council, dozens of other rare disease advocacy groups, and experts from science, medicine, and academia, ASF and FAST are working to create positive changes in healthcare policy.? ?? The ASF and FAST are committed to mobilizing and empowering more advocacy endeavors on a federal, state and local level to make sure patients can access every therapeutic treatment option.? ? Learn more: https://lnkd.in/gTXerup3
-
-
It's Giving Tuesday! Support the Angelman Syndrome Foundation and donations will be matched up to $45,000. Let's raise $90,000 to support individuals with Angelman syndrome! Donate here: https://lnkd.in/g4H3t3EK
-
The Phase 3 Efficacy and Safety Study of GTX-102 (ASO) in Pediatrics, sponsored by Ultragenyx, is now listed on ClinicalTrials.gov. Interested in learning more? ASF and FAST will be hosting a community webinar about the trial, named Aspire, with the Ultragenyx team on Oct 23, 2024 at 1pm EST. Submit your questions and register below.???? ?? Trial Information: https://lnkd.in/g9jJatJG? Webinar registration: https://lnkd.in/gUzBiMxK?? ?
-