Results 21 to 30 of about 2,408,361 (302)

Rare ophthalmology diseases

romanian journal of ophthalmology, 2019
Rare ocular pathology has an important impact on the quality of life of patients because often the damage is bilateral and, although asymmetric, causes a significant decrease in visual acuity. Because it may be asymptomatic until a relatively late stage, diagnosis is frequently delayed. A general understanding of the disease pathophysiology, diagnosis,
Elena Angelica, Sburlan, Liliana-Mary, Voinea, Cristina, Alexandrescu, Sanziana, Istrate, Raluca, Iancu, Ruxandra, Pirvulescu, Aida, Geamanu, Mihai, Ghita, Emil, Ungureanu, Ciuluvica, Radu   +9 more
openaire   +2 more sources

Rare Diseases

Journal of Prescribing Practice
Abstract The definition of rare disease is covered. The challenges in the clinical development programme are highlighted, including in the design, conduct, analysis, and interpretation of clinical studies. Regulatory flexibilities and support are highlighted.
Phil Ambery, Adrian Kilcoyne, Daniel O’Connor   +2 more
  +7 more sources

Overview of patients’ cohorts in the French National rare disease registry

Orphanet Journal of Rare Diseases, 2023
In France, all patients followed by Rare Disease (RD) expert centers have to be registered in the National Rare Disease Registry (BNDMR). This database collects a minimum data set including diagnosis coded using the Orphanet nomenclature.
Thibaut Pichon, Claude Messiaen, Louis Soussand, Céline Angin, Arnaud Sandrin, Nabila Elarouci, Anne-Sophie Jannot, on behalf of the BNDMR infrastructure team   +7 more
doaj   +1 more source

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. [PDF]

, 2016
Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association.
Dumas, Kevin, Ge, Xiaoyan, Gong, Henry, Grody, Wayne W, Hendriks, Yvonne, Kwok, Pui-Yan, Lee, Hane, Litwin, Jessica, Nelson, Stanley F, Phillips, Joanna J, Shieh, Joseph Tc, Stuurman, Kyra E, Waisfisz, Quinten, Weiss, Marjan M   +13 more
core   +2 more sources

Comprehensive Analysis of METTLs (METTL1/13/18/21A/23/25/2A/2B/5/6/9) and Associated mRNA Risk Signature in Hepatocellular Carcinoma

Analytical Cellular Pathology, 2023
Currently, 80%–90% of liver cancers are hepatocellular carcinomas (HCC). HCC patients develop insidiously and have an inferior prognosis. The methyltransferase-like (METTL) family principal members are strongly associated with epigenetic and tumor ...
Haoyu Wang, Shangshang Hu, Junjie Nie, Xiaodan Qin, Xu Zhang, Qian Wang, John Zhong Li   +6 more
doaj   +1 more source

Drug target gene-based analyses of drug repositionability in rare and intractable diseases

Scientific Reports, 2021
Drug development for rare and intractable diseases has been challenging for decades due to the low prevalence and insufficient information on these diseases. Drug repositioning is increasingly being used as a promising option in drug development.
Ryuichi Sakate, Tomonori Kimura
doaj   +1 more source

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm [PDF]

, 2013
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms ...
Alexandros Onoufriadis, Amelia Shoemark, Anthony T Moore, Antony, Bush, Chela T James, Chiara Bacchelli, Claire Hogg, Eddie M K Chung, Elisabeth M Rosser, Fliegauf, Gerard Pals, Gherman, Hannah M Mitchison, Hirst, Hjeij, Hozumi, Jeannette E Danke-Roelse, John J Sloper, Kennedy, Knowles, Loges, Lonergan, Miriam Schmidts, Mitali Patel, Mustafa M Munye, O'Toole, Olbrich, Ong, Onoufriadis, Papon, Peter J Scambler, Philip L Beales, Plagnol, Richard D Emes, Roy, Sarah Hull, Schultz, Shoemark, Speder, Stephen L Hart, Tarkar, Tewari, Xu, Yang, Zhang   +45 more
core   +3 more sources

Biomarkers in Rare Diseases

Public Health Genomics, 2013
<b><i>Background:</i></b> Nowadays 7,000 rare diseases (RDs) have been identified with a prevalence less than 5/10,000. Despite of the enormous effort the European Union (EU) has already invested in this field, still 4,000 RDs remain orphan of genetic diagnosis and causative gene identification.
FERLINI, Alessandra, SCOTTON, Chiara, G. Novelli   +2 more
openaire   +3 more sources

Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment

Orphanet Journal of Rare Diseases, 2022
Background Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA).
Amanda Mortensen, Eva M. Raebel, Samantha Wiseman   +2 more
doaj   +1 more source

Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'Drift mapping' in small populations with no demographic expansion [PDF]

, 1998
Linkage disequilibrium has been a powerful tool in identifying rare disease alleles in human populations. To date, most research has been directed to isolated populations which have undergone a bottleneck followed by rapid exponential expansion.
Laan, Maris, Pääbo, Svante, Terwilliger, Joseph D., Zöllner, Sebastian   +3 more
core   +1 more source