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Molecular and Genetic Studies of Congenital Myopathies

Yalnız qeydiyyatdan keçmiş istifadəçilər məqalələri tərcümə edə bilərlər
Giriş / Qeydiyyatdan keçin
Bağlantı panoya saxlanılır
Statusİşə qəbul
Sponsorlar
Boston Children's Hospital
Əməkdaşlar
Muscular Dystrophy Association

Açar sözlər

Mücərrəd

In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (neuromuscular diseases present from birth), including central core disease, centronuclear/myotubular myopathy, congenital fiber type disproportion, multiminicore disease, nemaline myopathy, rigid spine muscular dystrophy, SELENON (SEPN1) and RYR1 myopathy and undefined congenital myopathies. The primary goal of the research is to better understand the genes and proteins (gene products) involved in muscle functioning and disease. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with congenital myopathies in the future. For more information, visit the Laboratory Website at www.childrenshospital.org/research/beggs

Təsvir

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.

Tarixlər

Son Doğrulandı: 07/31/2020
İlk təqdim: 01/04/2006
Təxmini qeydiyyat təqdim edildi: 01/04/2006
İlk Göndərmə: 01/08/2006
Son Yeniləmə Göndərildi: 08/05/2020
Son Yeniləmə Göndərildi: 08/09/2020
Həqiqi Təhsilin Başlama Tarixi: 07/31/2003
Təxmini İlkin Tamamlanma Tarixi: 12/31/2049
Təxmini İşin Tamamlanma Tarixi: 12/31/2049

Vəziyyət və ya xəstəlik

Central Core Disease
Centronuclear Myopathy
Congenital Fiber Type Disproportion
Multiminicore Disease
Myotubular Myopathy
Nemaline Myopathy
Rigid Spine Muscular Dystrophy
Undefined Congenital Myopathy

Faza

-

Uyğunluq Kriteriyaları

Təhsilə Uyğun CinslərAll
Nümunə götürmə metoduNon-Probability Sample
Sağlam Könüllüləri qəbul edirBəli
Kriteriyalar

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.

Nəticə

İlkin nəticə tədbirləri

1. Identification of Neuromuscular Disease Genes [The time frame for disease gene discovery is unpredictable and may range from several days to several decades.]

This is an ongoing genetic discovery study aimed at finding and confirming pathogenic mutations in known and new disease genes.

İkincili Nəticə Tədbirləri

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.]

As known as known and new disease genes are identified the resulting genotypes are correlated with subject phenotypes.

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