Genetics of Mendelian Diseases in Qatar

Weill Cornell Medicine (WCM)

Status: Completed

Conditions: Mendelian Disorders

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT02021734

13-00065 [JIRB]

12217/12 (Other Identifier)

Details and patient eligibility

About

There are certain categories of diseases which are more prevalent in the Arab world due to increased rates of consanguinity in relatively isolated populations. The goal is to discover these mutations by using next-generation human genetics tools.

Full description

There are certain categories of diseases which are more prevalent in the Arab world due to increased rates of consanguinity in relatively isolated populations. The goal is to discover these mutations by using next-generation human genetics tools. These include high-throughput sequencing and genotyping along with the necessary bioinformatics analyses that will lead to the discovery of the causes of most inherited diseases in the region.The secondary objective will be to build a comprehensive catalogue of genetic variation in the Arab world. This will include all detected mutations, not only the subset that are causing disease (from primary objective), but also known trait-altering mutations as well as general diversity on the DNA level among human populations of this region. This catalogue can become a widely useful resource for many projects down the road, as it relies on anonymizing individual samples and instead displaying data in aggregate as the cohorts of collected samples grow over the years.

The study will include all genetic disorders from all ethnic backgrounds but Mendelian disease for which a gene mutation has already been identified will be excluded.

Evidence of Mendelian Transmission determined by fulfilling one of the following criteria:

Multiple affected family members (at least first degree relative with disease) History of consanguinity Severe disease in newborn in the absence of family history Sydromic disease in single individuals Congenital abnormality affecting major organ system(s) Mendelianized extremes of common disease (eg sever familial diabetes/ obesity/ hypertension)

Enrollment: 400 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• All included individuals must provide informed consent
• All genetic disorders are included
• All ethnic backgrounds are accepted
• Disease must be genetic with no evident environmental cause
• Evidence of Mendelian Transmission determined by fulfilling one of the following criteria:
• Multiple affected family members (at least first degree relative with disease)
• History of consanguinity
• Severe disease in newborn in the absence of family history
• Sydromic disease in single individuals
• Congenital abnormality affecting major organ system(s)
• Mendelianized extremes of common disease (eg sever familial diabetes/ obesity/ hypertension)

Exclusion criteria

• Individuals who do no consent to be included
• Mendelian disease for which a gene mutation has already been identified
• Individuals for which a molecular diagnosis has already been established by alternative method
• Disease for which an environmental factor is most likely the cause
• Disease for which late age of onset rule out Mendelian transmission
• Common diseases for which late age of onset rule out Mendelian transmission