Molecular Genetics Lab

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Molecular Genetics Lab

The Molecular Genetics Lab (MGL) clinical service, research activity and infrastructure constitute a major effort in building a national Genome Strategic Resource Laboratory for genome methodologies – large scale DNA sequencing, the detection of DNA variations (mutations, polymorphisms and chromosomal breakpoints), and computational genomics in the context of prevention, diagnosis, treatment, prognostic and management of genetic diseases whether inherited or acquired. The MGL reflects our conviction that the genetics of Palestinian populations present both the greatest challenge and the great opportunity for public heath workout. We also believe that scientists who live in the same places as those people most appropriately address genetics of the people.

Medical Services

Services offered by the Molecular Genetics Lab

  1. The Genetic Basis of Childhood Recessive Diseases in the Palestinian Population.

We are actively testing and searching for recessive childhood disease at the population level, in a community where such diseases pose a particular burden because of the cultural preference for consanguineous marriage.  Our activity therefore offers an unprecedented opportunity to combine gene discovery with improved care for affected families and communities.

 

  1. BROCA – Breast and Ovarian Cancer Associated Genes – Cancer Risk Panel.

Breast cancer incidence rates among Palestinian women are increasing. More formally, Palestinians women with a mother or sister with breast cancer experienced a 6-fold increased risk of the  illness, a significantly higher relative risk than among other.

    • BROCA platform is useful for the evaluation of patients with a suspected hereditary cancer predisposition, with a focus on syndromes that include breast or ovarian cancer as one of the cancer types and other cancer types such as colorectal, endometrial, pancreatic, endocrine, or melanoma.
    • The assay utilizes next generation sequencing to complete sequence all exons and flanking introns of these genes AND detects large deletions, duplications, and mosaicism.

 

  1. Tumor profiling for therapeutic and prognostic services.

Here we profile both solid myeloid cancers for genetic determinants of therapy and prognostics.

 

  1. Forensic, Parental and HLA Typing
    •  Ultra – High – Resolution HLA typing.

HLA typing by next-generation sequencing (NGS), Utilizes TruSight HLA Sequencing Panel produces high-resolution typing of 11 HLA loci with no ambiguous, phase-resolved HLA typing results. A simplified workflow enables turnaround time of less than 48 hours.

    •  Parental and Forensic Testing.

The analysis of short tandem repeat loci is an important complement to the length – and sequence – based DNA typing systems already in use for human identification. The AmpFlSTR Profiler Plus PCR Amplification protocols have been optimized to give the sensitivity and specificity necessary for forensic analysis.

 

  1. Preimplantation Genetic Diagnosis/Screening (PGD/S).

PGD can be considered as a very early form of prenatal diagnosis. Its intended goal is to diagnose a specific genetic disease on oocytes or embryos before a clinical pregnancy has been established, by selecting and transferring to the uterus only unaffected embryos.

The range of genetic defects which can be diagnosed has expanded dramatically and now includes numerical and structural chromosomal abnormalities through preimplantation screening (PGS) such as translocations and inversions, in which it has proven to decrease the number of spontaneous abortions while preventing the conception of affected babies,

More recently, HLA matching, with or without PGD diagnosis, has been introduced with the aim of recovering compatible stem cells from cord blood at birth for transplantation to an existing sick child.

 

  1. Noninvasive prenatal testing (NIPT), this test is done on the tenth week of pregnancy by taking a blood sample from the pregnant women to avoid chromosomal abnormality associated with chromosome 13, 18, 21 and XY.

 

  1. Pre Marriage Testing; is done to rule out any possible carrier state for both couples and thus reduce the possibility of effective pregnancy outcome. The test covers the common genetic abnormalities observes in Palestine.

 

  1. Chromosomal Copy Number and CytoScan High Definition (HD) Solution.

Deletions and duplications of chromosomal segments (copy number variants, CNVs) are a major source of variation between individual humans and are an underlying factor in human in many diseases, including mental illness, developmental disorders and cancer.

In addition, regular Karyotyping the CytoScan 750K array comprehensive coverage for known constitutional genes on a single array provides the power to detect all aneuploidies, and copy number changes, copy-neutral LOH, uniparental isodisomy (UPD), and regions identical-by-descent.

 

  1. Whole Genome and Exome Sequencing.

The use of whole-exome or genome sequencing (WES and WGS) in the clinical setting has increased significantly in the past few years.  Many patients with rare disorders now have diagnoses made through WES and had previously spent years on an uninformative diagnostic. Often WES is a less expensive option than serial genetic testing for conditions characterized by genetic heterogeneity due to involvement of a large number of genes. For families concerned about the risk of recurrence or considering having additional children, time is often precious and female fertility can be limited. For all these reasons, a comprehensive method of genomic testing such as WES is appealing, but data about its use in the clinical setting are limited.

We have found that WES and WGS significantly improve our diagnostic ability; we have addressed many of the practical problems of its clinical implementation and routinely use it as a primary test in patient’s genetic evaluation.

Head Of Molecular Genetics Lab

Prof. Moien Kanaan

Prof. Moien Kanaan

Professor of Molecular Genetics

Dr. Moien Kanaan is a Professor of Molecular Genetics and the Director of the Hereditary Research Lab (HRL), at Bethlehem University and the Molecular Genetics Lab (MGL) at Istishari Arab Hospital.

Dr. Kanaan is a leading Palestinian geneticist investigating the genetically isolated Palestinian population and its high consanguinity rate and identifying the genetic basis for few disorders. Dr. Kanaan’s collaborative work has been able to profile novel and variant alleles undermining hearing loss, epidermolysis bullosa, breast cancer, congenital heart disease, epilepsy, developmental delays, metabolic disorders and hypodontia in the Palestinian population and just recently mapped and identified few new culprit genes.

Under Dr. Kanaan’s direction the lab has introduced pre-gestational diagnosis (PGD/S) and screening, Noninvasive prenatal testing   and the capacity for next generation sequencing in Palestine.   Dr. Kanaan just finalized a full Palestinian genome-sequencing project and revealed some unique novelties.  Dr. Kanaan has many publications to his credit and is a recipient of many research grants and scientific awards.

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