- Видео 165
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HCU Network America
Добавлен 9 окт 2016
HCU Network America's mission is to help patients with Homocystinuria and related disorders manage their disease and to find a cure.
Our goal is to bring patients together and raise awareness.
Our goal is to bring patients together and raise awareness.
Early findings from the HCU Data Collection Program (October 2024)
The homocystinurias data collection program powered by Rare-X was launched in February 2022. HCU Network America shares early results two and a half after its launch.
Просмотров: 45
Видео
The History of Discovery of B6 Responsive Classical HCU, with Dr. George Spaeth.
Просмотров 84Месяц назад
In this video, HCU Network America President, Margie McGlynn interviews, world-renowned ophthalmologist Dr. George Spaeth about his involvement in the identification and treatment of the first B6-responsive classical homocystinuria patient.
September 2024 HCU Community Updates
Просмотров 10Месяц назад
During our September Meetup, we shared what we have been up to for Research, Advocacy, Awareness, and Fundraiser and our upcoming plans!
HARMONY, a potential treatment for Classical Homocystinuria.
Просмотров 662 месяца назад
Harmony is a phase III, double-blinded, placebo-controlled clinical trial designed to learn more about classical homocystinuria (HCU) and potential treatment. Learn what a phase III study is, its purpose, what the trial drug is, who qualifies, and the study design. Disclaimer The information is presented by Dr. Can Ficicioglu, MD, a paid consultant for Travere Therapeutics, Inc. This informatio...
What is a Natural History Study? With Dr. Harvey Levy
Просмотров 262 месяца назад
Dr. Harvey Levy discusses what is a natural history study, why they are important to patients, clinicians, researchers, and pharmaceutical companies, and hear from HCU Network America's Executive Director, Danae' about how this charts the course of the future to come! Disclaimer Travere Therapeutics, Inc., developed this video in partnership with HCU Network America. The information presented b...
What is Classical Homocystinuria (HCU)? With Dr. Harvey Levy
Просмотров 512 месяца назад
Dr. Harvey Levy discusses what classical homocystinuria is, the biochemical pathway involved, potential complications, and treatment. Disclaimer Travere Therapeutics, Inc., developed this video in partnership with HCU Network America. The information presented by Harvey Levy, MD, a paid consultant for Travere Therapeutics, Inc. This information is not intended as medical advice. Please discuss ...
Homocystinuria - Which one am I?
Просмотров 363 месяца назад
Homocystinuria is very confusing as there are over 10 types! Learn more about the different types of Homocystinuria and how they all fit together.
2024 HCU Conference, Registries & Why, As an Organization, We Care presented by Dr. Kimberly Chapman
Просмотров 523 месяца назад
Registries and Why, As an Organization, We Care Presenter: Dr. Kimberly Chapman, MD, PhD Attending Geneticist Children’s National Rare Disease Institute The Homocystinurias Data Collection Program launched in early 2022 is a secure global platform for the HCU community to share their personal experience and help to increase understanding of how HCU affects the body. Dr. Chapman will speak about...
2024 HCU Conference, Ask the Expert Panel, moderated by Margie McGlynn
Просмотров 523 месяца назад
Ask the Expert Panel Moderator: Margie McGlynn, RPh, HonDr Sci Cofounder and President, HCU Network America
Novel strategies to improve treatment for HCU Let me count the ways, presented by Ken Maclean, PhD
Просмотров 1,8 тыс.3 месяца назад
Novel strategies to improve treatment for HCU without injecting proteins: Let me count the ways Presenter: Ken Maclean, PhD Professor of Pediatrics, University of Colorado School of Medicine, Section of Genetics and Metabolism The Maclean Lab currently has four novel therapies for HCU in development. In this presentation, Ken describes his lab's progress with these strategies and outlines their...
2024 HCU Conference, The Remethylation Landscape presented by Brittany Parke
Просмотров 1583 месяца назад
The Remethylation Landscape Presenter: Brittany Parke Director of Remethylation Research, Board Member, HCU Network America This presentation provided an update on the Remethylation Research and Strategy Map.
How Biophysics enhances our understanding of CblC Disease, presented by Silvia Vilasi, PhD
Просмотров 1543 месяца назад
How Biophysics enhances our understanding of CblC Disease, suggesting new therapeutic approaches Presenter: Silvia Vilasi, PhD Researcher at the Institute of Biophysics, National Research Council (CNR), Italy The presentation focused on the results obtained from the research project titled 'Identification of Compounds to Rescue MMACHC Functional Deficiency in CblC Disease,' supported by the ass...
Crystallography-based screening to develop chaperones for HCU, presented by, Thomas J. McCorvie, PhD
Просмотров 843 месяца назад
Crystallography-based fragment screening to develop pharmaco-logical chaperones for classic homocystinuria Presenter: Thomas J. McCorvie, PhD Senior Research Associate, Newcastle University Classical homocystinuria (HCU) is associated with mutations of cystathionine beta-synthase (CBS), the central enzyme in the transsulfuration pathway. Many of these mutations cause misfolding and aggregation ...
2024 HCU Conference, Pegtibatinase, an Investigational Therapy for HCU, presented by Sagar Vaidya
Просмотров 503 месяца назад
Pegtibatinase, an Investigational Enzyme Replacement Therapy for the Treatment of Classical Homocystinuria due to cystathionine-beta synthase (CBS)-deficiency Presenter: Sagar A. Vaidya, MD, PhD Vice President, Clinical Development at Travere Therapeutics, Inc. The presentation provided an overview of pegtibatinase, an investigational treatment being developed by Travere Therapeutics for classi...
The Future Is Not Just New Disorders, presented by Gregory Bonn MT (ASCP)
Просмотров 173 месяца назад
The Future Is Not Just New Disorders, presented by Gregory Bonn MT (ASCP)
2024 HCU Conference, A Device for the Determination of HCY, presented by Matthew DiCerbo
Просмотров 73 месяца назад
2024 HCU Conference, A Device for the Determination of HCY, presented by Matthew DiCerbo
History of Homocystinuria Newborn Screening with Dr. Harvey Levy
Просмотров 543 месяца назад
History of Homocystinuria Newborn Screening with Dr. Harvey Levy
2024 HCU Conference, Panel: Aging with a Homocystinuria
Просмотров 333 месяца назад
2024 HCU Conference, Panel: Aging with a Homocystinuria
2024 HCU Conference, Update on Classical HCU Research Map, presented by Margie McGlynn
Просмотров 243 месяца назад
2024 HCU Conference, Update on Classical HCU Research Map, presented by Margie McGlynn
2024 HCU Conference Keynote Address, presented by Dr. Al Freedman
Просмотров 623 месяца назад
2024 HCU Conference Keynote Address, presented by Dr. Al Freedman
2022 HCU Hero Award Ceremony: James Weisfeld-Adams
Просмотров 414 месяца назад
2022 HCU Hero Award Ceremony: James Weisfeld-Adams
Early findings from the HCU Data Collection Program (June 2024)
Просмотров 244 месяца назад
Early findings from the HCU Data Collection Program (June 2024)
World Homocystinurias Awareness Day (WHAD) Panel 2024
Просмотров 145 месяцев назад
World Homocystinurias Awareness Day (WHAD) Panel 2024
January 2024, HCU Community Townhall Meeting
Просмотров 2810 месяцев назад
January 2024, HCU Community Townhall Meeting
EL-PFDD, Current and Future Treatments for HCU: Kelly
Просмотров 4011 месяцев назад
EL-PFDD, Current and Future Treatments for HCU: Kelly
EL-PFDD, Current and Future Treatments for HCU: Janet
Просмотров 13811 месяцев назад
EL-PFDD, Current and Future Treatments for HCU: Janet
EL-PFDD, Living with HCU Symptoms and Daily Impact: Brooklyn
Просмотров 15611 месяцев назад
EL-PFDD, Living with HCU Symptoms and Daily Impact: Brooklyn
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I can't express enough what this means to the rare community. Thank you Tom, Megan, Mary and especially Danae for a very informative session, not only for HCU but for all rare diseases that don't think they have enough numbers to make a difference. Very well put together. Looking forward to starting the surveys with our family.
I feel you bro 😕
keep your hopes high.