Rare Diseases
THE NEWEST DIAGNOSTIC METHODS.
UNIQUE SPECIALISTS.
TREATMENT SUCCESS WITH BMT — UP TO 97 %
Hadassah Means:
| Cutting-edge genetic tests. Innovative methods of enzyme replacement therapy. |
| Advanced techniques of stem cell transplant and bone marrow transplant (BMT). |
| Constant implementation of innovative drugs developed by scientists of the Hadassah MC. |
SPECIALISTS KNOWN WORLDWIDE
• The head of the BMT and Immunotherapy (for children and adults) department, professor Polina Stepensky has more than 20 years of experience. She is a member of the European Committee of BMT in non-malignant diseases. In 2018-2020 professor Stepensky has been in the list “Best Israeli physicians” annually published by the FORBES Magazine. Bone marrow transplants performed by professor Stepensky have saved dozens of children with osteopetrosis, primary immunodeficiency (PID), and many other rare genetic (orphan) diseases.
• The head of the Pediatric Bone Marrow Transplant department, Doctor Irina Zaidman has more than 18 years of experience. Doctor Zaidman has performed over 400 successful BMT procedures. In 2018-2020 Doctor Zaidman has been in the list “Best Israeli physicians” annually published by the FORBES Magazine. When issuing the international accreditation of the European Transplant and Cell Therapy Committee (JACIE) to the BMT department, committee experts have specifically praised the working qualities of Doctor Zaidman.
• The head of the Genetic and Metabolic Disease Department of Hadassah University Hospital professor Orly Elpeleg has more than 28 years of experience. Professor Elpeleg has become the first Israeli genetic scientist to start exome research. Genetic scientists of the hospital guided by professor Elpeleg has detected over 100 new gene mutations causing dangerous diseases.
• Professor Shimon Edwardson is a very skilled pediatric neurologist with an experience of 25 years. He is one of the leading specialists of the Hadassah University Hospital in this sphere. He specializes in diagnostics and treatment of genetic diseases affecting the nervous system. He is a famous scientist awarded with a lot of prestigious grants and prizes for research work.
TREATMENT OF ORPHAN DISEASES AT HADASSAH UNIVERSITY HOSPITAL
Cutting-edge methods of orphan disease treatment — from enzyme replacement therapy to gene therapy and stem cell transplant — are used in Hadassah Hospital. The treatment is carried out under the guidance of internationally known specialists, including oncohematologists professor Polina Stepensky and Doctor Irina Zaidman. Hadassah University Hospital is an initiator and a participant of many international clinical trials which are aimed at finding an efficient treatment for lethal diseases which are currently not managed by medicine.
SUCCESS OF THE BONE MARROW TRANSPLANT DEPARTMENT
Over 4,200 bone marrow transplants (over 1,380 in children) had been performed by December 2019 in Hadassah Medical Center. In August 2018, the BMT department of Hadassah became the first Israeli bone marrow transplant center that received full accreditation from the International Joint Accreditation Committee ISCT-EUROPE & EBMT (JACIE).
DIAGNOSED AND TREATED ORPHAN DISEASES AT HADASSAH UNIVERSITY HOSPITAL
| • Osteopetrosis | • Aplastic anemia | • Primary immunodeficiencies | • Adrenoleukodystrophy (X-ALD) |
| • Metachromatic leukodystrophy | • Congenital dyskeratosis | • Cystic fibrosis | • Hirschsprung's disease |
| • Familial Mediterranean fever | • Mucopolysaccharidoses I and II type (MPS I/II) | • Gaucher disease | • Krabbe disease |
| • Thalassemia | • Retinoblastoma | • Nijmegen breakage syndrome | • Mucolipidosis |
| • Adrenogenital syndrome | • Fabry disease | • Alpha-mannosidosis | • Thrombocytopenic purpura |
| • Arnold-Chiari malformation 1 type | • Crohn's disease | • Congenital ichthyosis | • Niemann-Pick disease |
| • Neurofibromatosis 1 type | • Moya-Moya disease | • Nephrotic syndrome | • Von Hippel-Lindau syndrome |
| • Schwachman-Diamond syndrome | • Pulmonary hypertension | • Tuberous sclerosis | • Wilson's disease |
| • Spinal muscular atrophy | • Cushing disease | • Atypical hemolytic-uremic syndrome | • Duchenne muscular dystrophy |
| • Haemangioma | • Burkitt lymphoma | • Juvenile monocytic leukaemia | • Menkes disease |
| • Thymoma | • Lymphosarcoma | • Pediatric genetic agranulocytosis |
HADASSAH — A CENTER OF RARE DISEASE STUDIES
The Hadassah University Hospital is a renowned leader in the sphere of orphan disease research. Scientists known all over the world work here, including professor Orly Elpeleg — the leading genetic physician, pediatrician, head of the Genetic and Metabolic Disease Department.
The Hadassah Clinic often hosts leading foreign scientists, while professor Elpeleg is the head of one such international research groups. The laboratories and research institutes of Hadassah Hospital are constantly working on the detection of yet unknown rare diseases, as well as the development and implementation of new diagnostic and treatment methods.
ACCURATE AND PROMPT DIAGNOSIS IS LIFE-SAVING
Currently over 7000 orphan diseases have been discovered. Often these pathologies are “disguised” as typical diseases, which confuses non-specialist physicians and leads to unnecessary treatment methods.
DIAGNOSTIC METHODS OF ORPHAN-DISEASES :
| • advanced computer visualization means • advanced equipment • cutting-edge tests. |
In many cases orphan diseases may be identified only based on genetic tests. The leading genetic scientists of the world work at Hadassah Hospital. They have at their disposal cutting-edge tests providing not only maximal accuracy, but also diagnostic efficiency.
UNIQUE EQUIPMENTS
The innovative NovaSeq 6000 sequencer manufactured by the Illumina Company is used to perform genetic tests in order to detect hereditary diseases, including unknown to science ones. This device allows to sequence the exome (DNA scanning to detect the sequence of protein-coding genes) much faster and more accurately than earlier. Unlike other Israeli medical centers, where this device is used almost exclusively with the purposes of research, it is actively used in Hadassah Hospital to diagnose genetic diseases.
This difference in approaches is related to the size of the genetic database: if the base is small, NovaSeq 6000 work concerning quick comparative analysis loses any sense. Hadassah University Hospital owns the most complete genetic database in Israel called HADASSOME, so the sequencer here is used exclusively for clinical purposes. Genetic scientists from other medical centers of the country constantly ask Jerusalem colleagues for advice.
The device scans the DNA which is extracted from the patient’s blood obtained during a routine blood test. The genetic material is placed into a special flow cuvette divided into a multitude of cells. A modern robotic system prepares the material for scanning.
NovaSeq 6000 has enhanced accuracy — each cell is scanned 32 million times by the device. One more advantage of the cutting-edge device is its throughput — it can scan up to 30 genetic samples simultaneously.
Exome sequencing is performed with the modern and high-speed PipeLine software system.
All these perfect technologies have made the sequencing process much more accurate and have allowed to shorten it as well — the patient receives the results in less than 2 weeks.
