Genetics of Rare Disease
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (26 August 2021) | Viewed by 46616
Special Issue Editor
Department of Science, Systems and Models, Roskilde University, Universitetsvej 1, DK-4000, Roskilde, Denmark
Interests: primary cilia; Bardet–Biedl syndrome; RPE; iPSC; RT-PCR ; movement disorder; tuberous sclerosis
Special Issue Information
Dear Colleagues,
Individual rare disease affects few persons. There is no clear definition, but up to six persons per 10,000 is a good estimate. Because the total number of different rare diseases is extremely high, approximately 7000 of the total number of affected persons and families are quite high. Elucidating the disease-causing mechanisms behind all individual diseases leads to increased knowledge about how the normal body works and can thus contribute to the development of treatment for both rare and more frequent diseases.
In this Special Issue, we will focus on the group of rare diseases called ciliopathies. More precisely, we will focus on ciliopathies where the primary cilium is affected. These diseases include, but are not restricted to, Bardet–Biedl syndrome, nephronophthisis, cranioectodermal dysplasia, Joubert syndrome, Meckel–Gruber syndrome, oral–facial–digital syndrome, and short-rib polydactyly syndrome. We welcome submissions of reviews, research articles, short communications, and concept papers.
Prof. Lisbeth Birk Møller
Guest Editor
Manuscript Submission Information
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Keywords
- Primary cilia
- Genetic disease
- Cilia coordinated signaling
- Syndromic
- Pheno-genotype correlation
- Diagnoses
- Pathophysiological processes