Hereditary Research Lab’s (HRL):
The Hereditary Research Lab’s (HRL) 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. This facility provides genome-relate
d practical know-how, as well as computing-intensive tools with regard to DNA sequence and variation analyses for the entire academic community of The Palestinian Authority. Such strategic resource is essential for the ability to benefit from the outcome of the worldwide Human Genome Project (HGP). It is expected to support new biotechnology enterprises in the areas of diagnostics, agriculture, combating genetic diseases, drug development, and gene therapy.
يمثل النشاط البحثي لمختبر الأبحاث الوراثية (HRL) الاساس المتين في بناء الجينوم الوطني الفلسطيني national Genome Strategic Resource Laboratory: والذي يشمل علي تسلسل الحمض النووي على نطاق واسع ، واكتشاف تغيرات الحمض النووي (الطفرات ، والتغيرات الطبيعية غير الممرضة ، والتشوهات الكروموسومية) ، و تحليل المعلومات البيولوجية باستخدام الكمبيوتر والتقنيّات الإحصائيّة. يوفر هذا المرفق الدراية العملية المتعلقة بالجينوم ، فضلاً عن الأدوات الحاسوبية المكثفة فيما يتعلق بتسلسل الحمض النووي وتحليلات التباين للمجتمع الأكاديمي بأكمله في السلطة الفلسطينية. هذا المورد الاستراتيجي ضروري للقدرة على الاستفادة من نتائج مشروع الجينوم البشري العالم .(HGP) إن مختبر مثل مختبر الأبحاث الوراثية يساهم في تطوير العديد من المجالات مثل التشخيص والزراعة ومكافحة الأمراض الوراثية وتطوير الأدوية والعلاج الجيني. Understanding the human genome and identification of disease-causing variants requires major efforts in classification and interpretation of the genetic variation from high-throughput sequencing projects. Distinguishing disease-causing variants from benign polymorphism is the biggest challenge in the face of clinical researchers to identify the pathogenicity of a variant. Numerous databases on the imperative issue of genetic variation are now available, however; variants can have different risk profiles depending on the ancestry involved. This sheds the light on the importance of having our own database, a Palestinian database. The in-house Palestinian database is an infrastructure for management and analysis of genetic variants from whole exome sequencing data from more than 1000 unrelated individuals, sequenced as part of various disease-specific and population genetic studies. Building an in-house Database for Palestinians is ideal for Palestinian researchers, clinicians, or institutions in need of an efficient and flexible system for management and analysis of the large-scale genetic data generated by WES technologies.
• قاعدة بيانات فلسطينية:
يتطلب فهم الجينوم البشري وتحديد المتغيرات المسببة للأمراض جهودًا كبيرة في تصنيف وتفسير التباين الجيني للبيانات الناجية عن مشاريع معرفة تسلسل الحمض النووي الناتج عن التقنيات الحديثة . يعد التمييز بين المتغيرات المسببة للأمراض من المتغيرات الحميدة أكبر تحد يواجه الباحثين لتحديد الطفرات الممرضة. تتوفر الآن العديد من قواعد البيانات للتنوع الجيني والتي من الممكن أت تختلف في تعريفها وتحديدها تبعا للنسل والأسلاف. وهذا يسلط الضوء على أهمية وجود قاعدة بيانات خاصة بنا ، قاعدة بيانات فلسطينية.
قاعدة البيانات الفلسطينية الداخلية هي بنية تحتية لإدارة وتحليل المتغيرات الجينية من بيانات تسلسل الإكسوم الكامل لأكثر من 1000 فرد غير مرتبط ، متسلسلة كجزء من الدراسات الجينية المختلفة الخاصة بالأمراض والسكان. يعد بناء قاعدة بيانات داخلية للفلسطينيين أمرًا مثاليًا للباحثين والأطباء الفلسطينيين أو المؤسسات التي تحتاج إلى نظام فعال ومرن لإدارة وتحليل البيانات الوراثية واسعة النطاق الناتجة عن تقنيات WES.
*HRL Group:
1- Moein Kanaan
Professor of Molecular Genetics, Dean of science, Director of the Hereditary Research Lab, Bethlehem University, Palestine
Biography: Dr. Moein Kanaan is a professor of Molecular Genetics and a leading Palestinian geneticist. Over the last 15 years, Dr. Kanaan has been investigating the genetically isolated Palestinian population and its high consanguinity rate and identifying the genetic basis human disorders; these include: hearing loss, skin abnormalities, breast cancer and congenital heart diseases. By studying large consanguineous Palestinian kindred, Dr. Kanaan’s collaborative work has been able to profile novel and variant alleles undermining hearing loss and Epidermolysis Bullosa in the Palestinian population and just recently mapped and identified a few new hearing loss causing genes. Dr. Kanaan has been a member of the Research Task Force in Palestine. He has many publications to his credit and has participated in many international research effort and scientific networks. Dr. Kanaan is a recipient of many research and scientific awards.
2- Suhair lolar abu Hamameh
Mrs. at the Faculty of Science, Department of Biological Sciences, Bethlehem University, Palestine. She started working immediately at Hereditary Research Laboratory (HRL) at Bethlehem University on the genetics of Breast Cancer among Palestinian families. During that period she completed her master in Molecular Microbiology at The University of Jordan. Suhair received her doctorate (PhD) degree from The Hebrew University, Faculty of Medicine. Currently she is doing her Postdoctorate Fellow at Shaare Zedek Medical Center Jerusalem and at HRL lab.
3- Grace Rabie
Mrs. Grace Rabie is a Research Assistant at Hereditary Research Laboratory at Bethlehem University. Rabie was Bethlehem University’s valedictorian for the academic year 2015/2016 with a Bachelor degree in Biology and Medical Laboratory with a GPA of 3.97/4. Rabie has pursued a Master’s degree in Biotechnology at Bethlehem University in 2019. Over the past 5 years, Mrs. Rabie has carried out numerous of genetic tests on hereditary diseases in the Palestinian society with advanced capabilities, including Whole exome sequencing using NextSeq 500 for the identification of rare genetic variants in families with congenital anomalies, Copy number analysis using Affymetrix CytoScan 750K chips, Screening and validation of mutations in patients with osteopetrosis, and Familial Mediterranean Fever (FMF) and thrombophilia diagnosis.
4- Mariana Kawas
Mariana received her B.Sc. She started working immediately at Hereditary Research Laboratory (HRL) at Bethlehem University on the genetics of Myotonic Dystrophy1 among Palestinian families as a part timer, and at the same time she is working as a lab assistant at the faculty of Science, she conducts various tests and experiments, preparing test samples, keeping lab records and documenting test findings.
*Past Members:
1- Amal Abu Rayyan
Amal received her B.Sc. She started working immediately at Hereditary Research Laboratory (HRL) at Bethlehem University on the genetics of hearing loss among Palestinian families. During that period she completed her master in Biotechnology. HRL is highly equipped with state of the art equipment's were several projects are being conducted, including Breast Cancer, Ichthyosis, Epilepsy, Congenital Anomalies, and Intellectual Disabilities. She is actively involved in all of these projects, which require technical knowledge on the genetic level as well as cutting-edge techniques. The studies that have done at HRL lab have been published in well-known scientific journals. Amal received her doctorate (PhD) degree and she validated novel genes that cause hearing loss in Palestinian families employing CRISPR/Cas9 genome editing to assign causality to human mutations in the mouse. Currently she is doing her postdoctoral and work at Mary-Claire King's lab, at Medical Genetics department, University of Washington (UW), Seattle, Washington.
2- Lara Kamel
Lara completed her B.Sc. in Biotechnology and Genetics at Jordan University of Science and Technology. After finishing her B.Sc., she worked at the Hereditary Research Laboratory at Bethlehem University on the genetics of hearing loss and various other congenital abnormalities in the Palestinian population. She then worked at Istishari Arab Hospital, performing molecular and bioinformatics analysis to identify the underlying genetic cause of different diseases. Lara is performing an M.Sc. at the Laboratory of Prof. Karen Avraham, Tel Aviv University, studying the genetic basis of hearing loss, and determining the pathogenicity of multiple variants.
3- Christina Canavati
Mrs. Christina Canavati received her B.Sc. in Biotechnology and Genetics at Jordan University of Science and Technology and she was the valedictorian of her class with GPA of 97. After finishing her B.Sc., she worked at the Hereditary Research Laboratory at Bethlehem University on the genetics of Newborn hearing loss and various other congenital abnormalities in the Palestinian population. Canavati pursued her Master’s degree in Biotechnology at Bethlehem University in 2018. Over the past 4 years, Mrs. Canavati has carried out numerous of genetic tests on hereditary diseases in the Palestinian society with advanced capabilities, including Whole exome sequencing using NextSeq 500 for the identification of rare genetic variants in families with congenital anomalies, Copy number analysis using Affymetrix CytoScan 750K chips, Screening and validation of mutations in patients with osteopetrosis, and Familial Mediterranean Fever (FMF) and thrombophilia diagnosis. Currently, she is a doctorate student at The Tabach Lab, Department of Developmental Biology and Cancer Research Faculty of Medicine, The Hebrew University of Jerusalem.
