Molecular and Genetic Studies of Congenital Myopathies
キーワード
概要
説明
The Congenital Myopathy Research Program consists of a group of scientists and healthcare providers all working to better understand the congenital myopathies. We are taking two approaches to reach our research goals. The first involves identifying and describing new genes and proteins involved in the skeletal muscles that allow our bodies to move. Simultaneously, studies are underway to identify genetic changes (mutations) that cause human neuromuscular disease. Thus, our second approach is to identify mutations, learn how they are inherited in families, and understand how they lead to weakness in individuals with neuromuscular disease. These approaches allow correlation of our basic muscle biology findings with our studies on muscle tissue of affected individuals.
Our research would not be possible without the generous participation of individuals and families with congenital myopathies. Participation in our studies is free of charge. Travel to Boston is not required, and we welcome the participation of individuals from around the world.
We appreciate the participation of all individuals with a congenital myopathy, as well as their first-degree relatives. Participants with a congenital myopathy are asked to donate medical records, a blood or saliva sample, and a muscle tissue sample (if available). Participating relatives are asked to donate a blood sample. The blood/saliva sample is used to acquire DNA (genetic material) which can be used to identify genetic changes and to study how a disease is inherited in a family. The medical records are employed to understand a participant's symptoms. The muscle tissue is used to better understand the disease at the muscular level by studying the gene expression and protein levels in individuals with congenital myopathies.
For more information, visit the Laboratory Website at www.childrenshospital.org/research/beggs.
日付
最終確認済み: | 07/31/2020 |
最初に提出された: | 01/04/2006 |
提出された推定登録数: | 01/04/2006 |
最初の投稿: | 01/08/2006 |
最終更新が送信されました: | 08/05/2020 |
最終更新日: | 08/09/2020 |
実際の研究開始日: | 07/31/2003 |
一次完了予定日: | 12/31/2049 |
研究完了予定日: | 12/31/2049 |
状態または病気
段階
適格基準
研究に適格な性別 | All |
サンプリング方法 | Non-Probability Sample |
健康なボランティアを受け入れる | はい |
基準 | Inclusion Criteria: - Individuals with a clinical or suspected diagnosis of a congenital myopathy and their family members Exclusion Criteria: - No specific exclusion criteria. Our studies do not include myotonia congenita or related conditions. |
結果
主な結果の測定
1. Identification of Neuromuscular Disease Genes [The time frame for disease gene discovery is unpredictable and may range from several days to several decades.]
二次的な結果の測定
1. Characterization of Clinical Features of Congenital Myopathies [The time frame for disease classification and genotype-phenotype correlation is unpredictable and may range from several days to several decades.]