scholarly journals Clinical Images: Spotted bone: Incidental detection of a rare genetic disease

2021 ◽  
Author(s):  
David A. Ramirez ◽  
Brittany Bettendorf
Keyword(s):  
Genetic Disease ◽  
Clinical Images ◽  
Rare Genetic Disease

EP165 Significant renal arteriovenous malformation in the context of a rare genetic disease: The Bannayan Riley Ruvalcaba syndrome

2014 ◽  
Vol 13 (5) ◽  
pp. 175
Author(s):  
A.D. Urbina Lima ◽  
A.B. Albano Del Pozo ◽  
J.J. Colombo Stenstrom ◽  
J. Murillo Mirat ◽  
A. Pijierro Amador ◽  
...  
Keyword(s):  
Arteriovenous Malformation ◽  
Genetic Disease ◽  
Rare Genetic Disease ◽  
Renal Arteriovenous Malformation

scholarly journals A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease

2018 ◽  
Vol 123 (4) ◽  
pp. 488-494 ◽  
Author(s):  
Paul Harmatz ◽  
Chester B. Whitley ◽  
Raymond Y. Wang ◽  
Mislen Bauer ◽  
Wenjie Song ◽  
...  
Keyword(s):  
Study Design ◽  
Genetic Disease ◽  
Rare Genetic Disease

scholarly journals New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases

2020 ◽  
Vol 21 (1) ◽  
pp. 351-372 ◽  
Author(s):  
Taila Hartley ◽  
Gabrielle Lemire ◽  
Kristin D. Kernohan ◽  
Heather E. Howley ◽  
David R. Adams ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Genetic Disease ◽  
New Technologies ◽  
Genetic Diseases ◽  
Well Being ◽  
Accurate Diagnosis ◽  
Diagnostic Odyssey ◽  
Rare Genetic Disease ◽  
Rare Genetic Diseases ◽  
Diagnostic Approaches

Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and promoting patient and family well-being. However, families with a rare genetic disease (RGD) often spend more than five years on a diagnostic odyssey of specialist visits and invasive testing that is lengthy, costly, and often futile, as 50% of patients do not receive a molecular diagnosis. The current diagnostic paradigm is not well designed for RGDs, especially for patients who remain undiagnosed after the initial set of investigations, and thus requires an expansion of approaches in the clinic. Leveraging opportunities to participate in research programs that utilize new technologies to understand RGDs is an important path forward for patients seeking a diagnosis. Given recent advancements in such technologies and international initiatives, the prospect of identifying a molecular diagnosis for all patients with RGDs has never been so attainable, but achieving this goal will require global cooperation at an unprecedented scale.

scholarly journals Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease

2016 ◽  
Vol 11 (1) ◽  
Author(s):  
Steven U. Walkley ◽  
Cristin D. Davidson ◽  
Jonathan Jacoby ◽  
Philip D. Marella ◽  
Elizabeth A. Ottinger ◽  
...  
Keyword(s):  
Genetic Disease ◽  
Collaborative Research ◽  
Rare Genetic Disease ◽  
Type C ◽  
Niemann Pick
Sign in / Sign up

Export Citation Format

Share Document