[HTML][HTML] High-throughput assays to assess variant effects on disease
K Ma, LO Gauthier, F Cheung… - Disease Models & …, 2024 - journals.biologists.com
Interpreting the wealth of rare genetic variants discovered in population-scale sequencing
efforts and deciphering their associations with human health and disease present a critical …
efforts and deciphering their associations with human health and disease present a critical …
[HTML][HTML] Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system
EM Spelbrink, TL Brown, E Brimble, KA Blanco… - Frontiers in …, 2023 - frontiersin.org
Introduction: SLC13A5 citrate transporter disorder is a rare autosomal recessive genetic
disease that has a constellation of neurologic symptoms. To better characterize the …
disease that has a constellation of neurologic symptoms. To better characterize the …
Cancer researchers' experiences with and perceptions of research data sharing: Results of a cross-sectional survey
Background: Despite wide recognition of the benefits of sharing research data, public
availability rates have not increased substantially in oncology or medicine more broadly …
availability rates have not increased substantially in oncology or medicine more broadly …
Determining commonalities in the experiences of patients with rare diseases: A qualitative analysis of us food and drug administration patient engagement sessions
C Mease, LJ Fermaglich, K Jackler, S Shermer… - The Patient-Patient …, 2024 - Springer
Background Rare diseases are estimated to affect more than one in ten Americans.
However, most patients with a rare disease face significant emotional, physical, and social …
However, most patients with a rare disease face significant emotional, physical, and social …
The value of using real-world evidence as a source of clinical evidence in the European medical device regulations: a mixed methods study
O McDermott, B Kearney - Expert Review of Medical Devices, 2024 - Taylor & Francis
Objectives This study investigates the benefits, limitations and awareness of using Real
World Evidence and Real World Data for post-market clinical follow-up studies and clinical …
World Evidence and Real World Data for post-market clinical follow-up studies and clinical …
Integrated Epigenetic and Transcriptomic Analysis Identifies Interleukin 17 DNA Methylation Signature of Malignant Peripheral Nerve Sheath Tumor Progression and …
QR Brockman, JD Rytlewski, M Milhem… - JCO precision …, 2024 - ascopubs.org
PURPOSE Sarcomas are a complex group of highly aggressive and metastatic tumors with
over 100 distinct subtypes. Because of their diversity and rarity, it is challenging to generate …
over 100 distinct subtypes. Because of their diversity and rarity, it is challenging to generate …
Developing Treatments for Rare Diseases on a Shoestring
There are thousands of rare genetic diseases lacking an approved treatment, many of which
are life limiting to children. Those caused by a missing protein may represent a target for …
are life limiting to children. Those caused by a missing protein may represent a target for …
Amanda Haidet-Phillips Sarepta Therapeutics, Cambridge, MA, USA Avery McIntosh Pfizer Inc., Collegeville, PA, USA
O Sverdlov, S Galasinski - Development of Gene Therapies …, 2024 - books.google.com
The US Orphan Drug Act of 1983 was designed to facilitate the development of drugs for
diseases with small numbers of patients that were previously overlooked by drug developers …
diseases with small numbers of patients that were previously overlooked by drug developers …
Development of Gene Therapies for Ultra-Rare Disease
A Haidet-Phillips, A McIntosh, S Oleksandr… - Development of Gene …, 2024 - taylorfrancis.com
The US Orphan Drug Act of 1983 was designed to facilitate the development of drugs for
diseases with small numbers of patients that were previously overlooked by drug developers …
diseases with small numbers of patients that were previously overlooked by drug developers …
Live Microstructural Analysis of Rare Eye Diseases with Modern Technologies
MR Boyadzhieva - 2023 - search.proquest.com
Rare diseases (RD) are a heterogeneous group of diseases defined as pathological
conditions with low incidence and morbidity. More than 7,000 rare diseases are known, of …
conditions with low incidence and morbidity. More than 7,000 rare diseases are known, of …