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Prof Eli Sprecher
Institution(s): Tel Aviv Medical Center and Tel Aviv University
Research focus: The genetic basis of skin diseases
What are your own areas of research, and what insights do these give you on EB?
Our group has been investigating the genetic basis of skin diseases for the past 25 years. Using large clinical datasets and advanced analytical tools, we aim at understanding the molecular genetics of both simple and complex traits. The identification of the genetic basis of a monogenic disorder invariably uncovers the physiological function of the protein defective in this condition. This new knowledge can in turn translated into innovative therapeutic tools. This approach is leading to novel developments of relevance to patients affected by genetic skin diseases including Epidermolysis Bullosa.
Where do you see the biggest contributions research can make to improving options for people with EB?
The three major areas where research efforts could contribute to ameliorate the condition of people with EB are:
- Prevention of disease manifestations: this can be achieved using classical approaches such as ex-vivo or in-vivo genetic corrections of the underlying defect associated with the various forms of the disease. Alternatively, less complex and possibly more practical approaches may include drug repurposing or the development of novel chemical entities using high throughput screening of small molecule libraries.
- Prevention of disease complications: this would entail strategies addressing the major pathologies associated with Epidermolysis Bullosa, namely malignant transformation, scarring and pruritus. These share common etiological factors, mainly the abnormal activation of potent inflammatory circuits, which are becoming increasingly amenable to pharmacological modulation.
- Prevention of non-physical consequences of the disease: digital tools which are increasingly becoming accessible have not been harnessed enough although they may provide solutions to a number of issues EB patients have to cope with such as: (1) the overwhelming availability of information which when not-well-founded can be detrimental; (2) isolation which is due to both social context as well as physical limitations. Digital tools are empowering in this situation; (3) difficult access to experimental therapies due to the need to travel. Digital tools can be used to facilitate enrollment, monitoring and in some cases, treatment itself.
What are the current most urgent research questions, both in basic knowledge and translational research?
Among the most pressing questions which have not yet been fully answered are:
- Can we cure the disease ? or is the best we can hope for, not more than attenuation of the disease manifestations?
- Given the fact many of the disease-associated complications are irreversible, when should treatment be implemented?
- What are the most important outcomes to be targeted by novel therapies and what is the best way to measure them?
- What is leading EB pathogenesis, and thereby, what should be our primary therapeutic target (mechanical failure of the basement membrane? inflammation and fibrosis?) and as a consequence, is it time to re-think of EB pathogenesis from a conceptual point of view ? As a side question, what are the consequences of our steadily growing understanding of the pathogenesis underlying the various forms of EB for a novel classification of the disease, which could help better guide treatment decisions ?
DEBRA and EB-ResNet members are grateful for your dedication to helping people with EB; what do you find rewarding about being a member of MSAP?
The possibility to share my experience with leaders in the field and together try to ensure that research efforts in EB serve in the best possible way the patients and their families.