Al-Aqeel Sewairi Syndrome , MIM#605156 , a Prototype for Personalized Medicine for the Study and Prevention of Genetic Metabolic Disorders in Saudi Arabia

Aida I. Al-Aqeel

doi:10.7707/hmj.v5i3.187

Article Details

Al-Aqeel Sewairi Syndrome , MIM#605156 , a Prototype for Personalized Medicine for the Study and Prevention of Genetic Metabolic Disorders in Saudi Arabia

Authors:

Aida I. Al-Aqeel

Publisher:

Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences

Main Topics:

Medicine

Journal:

Hamdan Medical Journal 2012 vol.5 Issue 3, pp.305-311

Document Type:

Article

Publication Date:

12/2012

Document Language:

English

Document ID (Org No.):

47547

Frequency:

Tri-Annual

eISSN:

2227247X

pISSN:

22272437

DOI:

10.7707/hmj.v5i3.187

Descriptors:

Abstract:

 Aims. Middle Eastern cultures are tribal and heavily consanguineous.Marriage between cousins has been part of the culture for millennia, leadingto ‘founder’ effect and a large number of autosomal diseases. In SaudiArabia, like other Middle Eastern countries, first-cousin marriages accountfor almost 60–70% of all marriages, leading to uniquely common disorderswhich are either rare by Western standards or completely unknown. Mostof these disorders lead to physical and mental handicap; affected childrenhave poor development and reduced mental capacity. Therefore, accuratediagnosis of the exact molecular defect and prevention is the main aim of ourmanagement of these children.Material and Methods. Applying personalized genomics for the diagnosis,prevention and treatment of our patients with genetic metabolic disordersin accordance with our Islamic ethical guidelines is our most importantstrategy in managing our patients. An example of such an application inSaudi Arabia is the previously described novel autosomal recessive osteolysis/arthritis syndrome, multicentric osteolysis nodulosis with arthritis (MONA)(NOA) (Al-Aqeel Syndrome) (MIM#605156), a distinctive autosomal recessivemulticentric osteolysis in Saudi Arabian families with distal arthropathyof the metacarpal, metatarsal and interphalangeal joints, with ultimateprogression to the proximal joints with decreased range of movements anddeformities with ankylosis and generalized osteopenia. In addition, patientshave large, painful to touch palmar and plantar pads; they are also found tohave hirsutism and mild dysmorphic facial features including proptosis, anarrow nasal bridge, bulbous nose and micrognathia.Results. The syndrome is caused by inactivating mutations in the MMP2gene, for which we have established prevention and therapeutic strategy.We have also established with other colleagues the exact genetic defectafter establishing the accurate diagnosis and the systematic prevention ofgenetic disorders by pre-implantation genetic diagnosis with a success inover 160 cases in which the result was the birth of normal children, includingpatients with Al-Aqeel Sewairi syndrome. We are also establishing stem celltherapy for Genetic Metabolic disorders, with Al-Aqeel Sewairi syndromeas the prototype for such promising modality for treatment of mental andphysical handicap in children. These strategies must be done in accordancewith our ethical and religious background, with priorities given to the rightsof patients and families to know and to make their own decisions as dictatedby our Islamic ethics.Conclusion. Personalized medicine includes diagnostic and prognosticapproaches, and must include personalized preventive and therapeuticstrategies in accordance with our Islamic ethical standards.

Article Details

Al-Aqeel Sewairi Syndrome , MIM#605156 , a Prototype for Personalized Medicine for the Study and Prevention of Genetic Metabolic Disorders in Saudi Arabia

Authors:

Aida I. Al-Aqeel

Publisher:

Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences

Main Topics:

Medicine

Journal:

Hamdan Medical Journal 2012 vol.5 Issue 3, pp.305-311

Document Type:

Article

Publication Date:

12/2012

Document Language:

English

Document ID (Org No.):

47547

Frequency:

Tri-Annual

eISSN:

2227247X

pISSN:

22272437

DOI:

10.7707/hmj.v5i3.187

Descriptors:

METABOLIC DISORDERS

DISABILITY

METABOLISM

DIAGNOSIS

THERAPY

PATIENTS

SAUDI ARABIA

Issues

Article Details

Authors: Aida I. Al-Aqeel

Publisher: Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences

Main Topics: Medicine

Journal: Hamdan Medical Journal 2012 vol.5 Issue 3, pp.305-311

Document Type: Article

Publication Date: 12/2012

Document Language: English

Document ID (Org No.): 47547

Frequency: Tri-Annual

eISSN: 2227247X

pISSN: 22272437

DOI: 10.7707/hmj.v5i3.187

Descriptors:

Issues

Authors:

Aida I. Al-Aqeel

Publisher:

Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences

Main Topics:

Medicine

Journal:

Hamdan Medical Journal 2012 vol.5 Issue 3, pp.305-311

Document Type:

Article

Publication Date:

12/2012

Document Language:

English

Document ID (Org No.):

47547

Frequency:

Tri-Annual

eISSN:

2227247X

pISSN:

22272437

DOI:

10.7707/hmj.v5i3.187