welcome to oneEDSvoice
- a positively charged Ehlers Danlos Syndrome community.- join today!
- login
Genetics of Ehlers-Danlos Syndrome
study id #: NCT03093493
condition: Genetics Syndrome
Ehlers-Danlos Syndrome
status: suspended
purpose:We are planning to collected blood and saliva for DNA extraction to use for genetic testing of children and adults with EDS and their relatives. Medical records from other institutions and clinical notes for visits in Dr. Holick’s clinic will be reviewed to obtain the following information: previous diagnosis at other institutions, age, clinical signs and symptoms of EDS, Joints Hypermobility Syndrome (JHS), , and other metabolic or genetic disorders and laboratory results, radiology reports and images, and genetic testing that supports these diagnoses. Subjects’ peripheral vein blood and saliva will be taken. No clinical intervention/randomizations will be performed. No patients’ identifiers will be reported.
In this pilot study genomic DNA will be extracted and will be used for genotyping as sequencing in 30 EDS patients and their 30 relatives with or without EDS to compare genetic variations between them. After validation by Sanger sequencing for these variations, we plan to prepare a genetic panel for EDS. After all validation testing, we plan to evaluate the saliva DNA in a similar manner and compare the results with those obtained from the DNA from the blood sample. The purpose is that if they are comparable, we will be able to use saliva in place of blood as it easier method for accessing a person’s DNA. This will be especially helpful for evaluating infants or those patients who prefer not to have a blood sample drawn.
intervention: Diagnostic Test: Genotyping
expertly curated content related to this topic
-
Ehlers-Danlos Syndrome – A Reference Guide (The Hill Resource and Reference Guide)The Hill Resource and Reference Guide se...
-
‘Most Neglected Disorder in Modern Medicine’ Receives Major Classification UpdateThe American Journal of Medical Genetics...
-
Assessment of Small Fiber Neuropathy in Rare Diseases Using SudoscanSudoscan™ (Impeto Medical, Paris Franc...
-
Clinical and Molecular Manifestations of Heritable Connective Tissue DisordersThe purposes of this study are to identi...
-
Ehlers-Danlos SyndromeEhlers-Danlos syndrome (EDS) is the name...
-
Clinical and Molecular Manifestations of Heritable Disorders of Connective TissueBackground: - Heritable disorders of ...
-
Ehlers-Danlos Syndrome: Your Eyes and EDSEhlers-Danlos Syndrome (EDS) patients of...