Professor Ari Zimran discusses the importance of early diagnosis in Gaucher disease.

 In Advocacy & Awareness, Congresses, Fabry Disease, Gaucher Disease

An Interview with Professor Ari Zimran, M.D, Head of the Gaucher Clinic at the Shaare Zedek Medical Centre in Jerusalem. Ahead of SSIEM 2016, we had the pleasure of interviewing Professor Ari Zimran, M.D, Professor for Neurology about his opinion on the link between Gaucher disease and Parkinson’s disease (PD), the benefits of pedigree analysis and other topics related to lysosomal storage diseases (LSDs). See below for the discussion and visit the Rare 2 Aware blog again for more information from leaders in the rare disease space. Q) Are there any hot topics in the field of LSDs you are interested in hearing more about at this year’s congress? A) I don’t believe there are any new results in Gaucher disease research at present but an upcoming hot topic in the Gaucher disease research field will be the link between Gaucher disease and Parkinson’s disease (PD). There is evidence that Gaucher disease mutations can cause a pre-disposition to PD, and that the onset of PD can appear earlier and can be more severe in Gaucher patients. If a PD therapy becomes available, the importance of diagnosing Gaucher early will increase further. Q) What is your view on the importance of newborn screening? A) For any disorder where treatment is available, and where it makes a difference between a normal life and a disabled life, it would justify early diagnosis, and the earliest possible is obtained through newborn screening. Even when treatment is not available, but the disease is associated with significant morbidity, another reason to justify newborn screening is to allow parents to decide whether they want to have another child, to avoid having a sibling with the same disease. In all cases, genetic counselling must be given. I am also aware of the difficulties of implementing a broad newborn screening programme. As an example in Gaucher disease, screening might detect a lot of newborns who won’t experience symptoms or need treatment. Screening for mutations associated with severe symptoms would help avoid this. Society should be able to cope with the high cost of newborn screening as it may eventually lead to less expenditure on healthcare and welfare, and ultimately can prevent misery and allow people to fulfil their lifetime dreams. Q) What is your view on the importance of pedigree analysis? A) Pedigree analysis should be implemented in Gaucher disease. It doesn’t require the same level of resources as newborn screening and has higher returns because if one person in the family has the disease, there is a high probability of finding another patient in the same family. Q) What are the biggest challenges in managing Gaucher disease? A) The key challenge remains early diagnosis and timely introduction of therapy before irreversible changes occur in the patient. Even today after >20 years since the first Enzyme Replacement Therapy (ERT), too many patients are diagnosed late after irreversible symptoms have occurred. A second challenge is to find a way to prevent/treat/manage the neuronopathic symptoms of type 3 Gaucher disease. Q) Do you recommend patients are assessed for cognitive involvement? A) Type 3 Gaucher patients are determined by genetic testing, not by neuro-cognitive testing. Neuro-cognitive testing should be part of the disease monitoring in type 3 patients. Disclaimer: The views expressed in this post do not necessarily reflect the views of Shire INTSP/C-ANPROM/RDBU/16/0028(1) September 2016 The post Professor Ari Zimran discusses the importance of early diagnosis in Gaucher disease. appeared first on Rare2Aware.

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