Scientific - Medical Brainstorming about the UBTF Mutation
9 March 2018
LOCATION: BLAVATNIK CENTER
A rare mutation – Between Science and Medicine
In the framework of the goals of promoting research and development of drugs and innovative methods of treatment for the orphan disease – CONDBA, a first meeting took place on 9 March 2018, in Blavatnik Center for Drug Discovery.
In the meeting, there was a discussion regarding:
• The scientific plan and collaboration between the two labs – in Blavatnik center and the Technion, scanning FDA approved drugs and cannabis derivate fractions on fibroblasts of children who suffer from the disease
• A Genetic study in Haifa University on several patients DNA samples / Axoms. The aim is to test the possibility that several other mutations in other genes contribute to UBTF pathology.
• A non-invasive technology such as the Neurosteer was suggested (https://neurosteer.com) that is a wearable device which can give a hint of ways to optimize some exercises for cognitive and motor maintenance. We will start soon.
• A Study which will monitor circadian and yearly rhythms that will take place in TAU/Sagol. A disturbance may be a result of the disease or secondary to the change of lifestyle. In both cases, there is the damage to the quality of life and if it is so we can try to improve the situation
• Analyzing the clinical data gathered from the other parents in Israel and around the world in order to have a better understanding of the pathophysiology and dynamics of the disease – Schneider hospital.
Prof. Miguel Weil
Neurobiology, Head of the Laboratory for Drug Research at the BLAVATNIK Center, Tel Aviv University / Sagol
Gil Atzmon, Ph.D. | Albert Einstein College of Medicine
The Laboratory of Genetics and Epigenetics of Aging and Longevity
Head of the Laboratory of Genetics and Epigenetics and Ageing, University of Haifa
Dr. Anat Grinfeld, PhD
Head of Research Unit, Department of Medical Imaging, Rambam
Prof. Noga Kronfeld Schor
Zoology, Head of the Laboratory of Ecological and Evolutionary Physiology Tel Aviv University / Sagol.
Kronfeld Schor Noga
Dr. Helit Nabel Rozen
Genetics – Molecular research in cancer, advanced microscopic use. The Technion
Dr. Talia Kinnar MD Family Medicine
Dr. Yuval Landau MD Neurology – metabolism Schneider Hospital
Dr. Ganelin Etty MD Neuroimmunology – Schneider Hospital
Expressed their willingness to cooperate in the future:
Dr. Pavel Goldstein – Colorado University / Cognitive and Affective Neuroscience Laboratory
Dr. Rami Reshef – Head of the Department of Evolutionary Biology, University of Haifa
Prof. Gidi Rechavi – Director of the Sheba Center for Cancer Research Sheba Hospital
Prof. Oded Rechavi – Neurobiology / Genetics Tel Aviv University / Sagol