Realizing the outreach potential of our success the HRL has opened its capacity for services for all health and agriculture sectors (public and private), for Palestinian researchers and for training and workshops. The HRL success has been instrumental in offering a joint master program in Biotechnology jointly with Palestine Polytechnic University.
Focal Point Of Services and Research
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 The list of genetic test incudes for example:
- Monogenic diseases relevant to the Palestinian population…
B- and Alpha thalassemia, Thrombophilia profile, FMF, PKU, DMD, CF, SMA, Ataxia, Myotonia, X-Fragile,Myofibril diseases, Myasthenia Gravis, Metabolic diseases (quite few), hearing loss, Epidermolysis bullosa, Osteopetrosis, CHD, Epilepsy, Autism spectrum disorders and many others developmental and neurological disorders.
- Infertility tests… Y chromosome deletions, chromosome
copy number changes and infertility panels testing in both males and females, Noninvasive prenatal testing, Aneufast and chromosomal array testing
- Clincal oncology testing…ex: residual disease testing
KRAS/NRAS/BRAF/Jak2 testing, Microsatellite Instability, Clone assessment in Leukemia. and all actionable mutation profiling solid and myeloid (100 genes and fusion proteins)
2. BROCA – Breast and Ovarian Cancer Associated Genes-Cancer Risk Panel
Breast cancer incidence rates among Palestinian women are increasing, probably as the result both of lifestyle changes among some young women and of improved reporting practices. Breast cancer appears disproportionately in some extended families in this population. 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.
Clustering of breast cancer in a limited number of families in an otherwise low-incidence region could reflect familial clustering of non-genetic risk factors, or genetic predisposition,
or both. Our interest is in identifying the genetic component of this familial risk and providing appropriate
services, recommendations and counselling to genetically high-risk women.
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. Depending on the causative gene involved, these cancers may co-occur with other
cancer types (such as colorectal, endometrial, pancreatic,
endocrine, or melanoma).
The assay utilizes next generation sequencing to completely sequence all exons and flanking introns of these genes AND detects large deletions, duplications, and mosaicism.
Genes include : AKT1, APC, ATM, ATR, BAP1, BARD1, BMPR1A,
BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK1, CHEK2,
CTNNA1, FAM175A (Abraxas), GALNT12, GEN1, GREM1,
HOXB13, MEN1, MLH1, MRE11A, MSH2 (+EPCAM), MSH6,
MUTYH, NBN, PALB2, PIK3CA, PPM1D, PMS2, POLD1, POLE,
PRSS1, PTEN, RAD50, RAD51, RAD51C, RAD51D, RET, SDHB,
SDHC, SDHD, SMAD4, STK11, TP53, TP53BP1, VHL, and XRCC2.
3. 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. Consequently, PGD may spare the couple decisions regarding possible pregnancy termination, ensuring a pregnancy free of the disease.
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
4. 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.
Chromosomal array (CMA) has many advantages over conventional cytogenetic and molecular karyotyping techniques. The indicated array can be comprehensive (genome-wide), high resolution, amenable to automation, rapid, and sensitive. 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.
5. Total Exome Sequencing
The use of whole-exome sequencing (WES) 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 odyssey enduring costly, time consuming, and sometimes invasive procedures associated with medical risks that are stressful for families and providers and imposing a heavy burden on the health-care system. 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 significantly improves our diagnostic ability; we have addressed many of the practical problems of its clinical implementation and routinely
use WES as a primary test in patients’ genetic evaluation.