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Rare Disease Day 2017

The Malta BioBank/ and the Research Trust (RIDT) of the University of Malta once again organised the third national colloquium on research in rare disease. This year, the event took place on Thursday 23rd February 2017 at 8.00pm at the Auditorium of the ICT Faculty at the University of Malta.

The Colloquium was held with the support of the Dean of the Faculty of Medicine and Surgery, Prof Godfrey LaFerla and the Director of the Centre of Molecular Medicine and BioBanking, Prof Richard Muscat. The Hon Chris Fearne, Minister for Health and Ms Michelle Muscat, Chairperson of the Marigold Foundation and President of the National alliance for Rare Diseases Support were also present. The event also enjoyed the support of the Malta College of Family Doctors.

The event provided an opportunity for researchers and experts in various fields to present their research on a number of rare disorders. Some of these initiatives are being funded by the Research Trust (RIDT) of the University. The colloquium seeks to generate more awareness on such rare disorders to the public at large.

This event was supported by Vivian Corporation representing Pfizer, Shire and BioMarin in Rare Disease Research.


The Role of Family Doctors in Rare Diseases by Prof Pierre Mallia; Family doctors are have an essential role in identifing patients with rare disease and providing support to the families.

The National Alliance for Rare Diseases Support by Dr Alistair de Gaetano; The National Alliance for Rare Diseases Support is a non-governmental patient support group working closely with the Marigold foundation, which has been creating awareness about rare disease, providing support to patients and families, and promoting research at the University of Malta.

The Clinical Biobank of by Ms Joanna Vella; The Malta Biobank is a collection of biological samples used for common and rare disease research at the University of Malta in collaboration with the Department of Health and international biobank networks.

Autosomal Dominant Polycystic Kidney Disease by Dr Rosienne Farrugia; A new pathological mutation associated with a heritable kidney disease (Autosomal dominant polycystic kidney disease) was discovered in the Maltese population by using new DNA sequencing techniques.

BBMRI-ERIC Common Service Ethical, Legal and Social Issues by Dr Gillian Martin; A sociological pilot study was performed to assess the perception and behaviour of laypeople related to biobanking, in order to find the issues which affect participation in genetic research.

Orphan Medicines for Rare Diseases by Mr Amar Abbas and Ms Sharon Vassallo; A study is being done locally, to investigate how rare diseases are diagnosed, the acessability to treatment specific to rare disease, the use of health and support services and other factors eperienced by maltese people with rare diseases.

The Malta Rare Disease Register: One Year On by Dr Neville Calleja; In one year the Malta Rare Diseases Register has documented over 600 cases of rare diseases which include rare types of cancer, congenital anomalies and rare diseases requiring treatment abroad. Other types of rare diseases will be added to the register and data can be used to compare the incidence of rare diseases with other countries.

Zebrafish Animal Models to Study Bone Diseases by Dr Melissa Formosa; The zebrafish is a model organisim used in research to measure the observable charachteristics in order to discover the effects of genetic mutations in several diseases, such as bone disorders.

ALS/Motor Neuron Disease from Genes to Treatment by Ms Maya Lanfranco; Research is being performed at the University of Malta, using the fly as a model organisim, inorder to understand the development of motor neuron diseases (e.g. ALS and SMA) and develop new drugs for these diseases.

Pseudo Thalassaemia: a New Rare Disorder by Ms Laura Grech; By screening a number of individuals with hematological findings of thalassemia (a type of hereditary anaemia) , a subcategory of patients were found not having the thalassemia mutation. However they had mutations in the KLF1 gene and this can be helpful in subjects with unexplained haematological characteristics.

Therapeutics Research into Osteosarcomas: Rare Childhood Tumours by Prof Pierre Schembri Wismayer; Natural extracts and purified chemicals are being used to develop new drugs which can kill tumor cells in particular types of cancers (e.g. Osteosarcoma, Leukaemia).

Familial Breast Cancer by Prof Christian Scerri; Hereditary cancers are rare and genetic panels testing on multiple genes may be used. However a lot of genes are of unknown clinical significance and proper genetic testing also requires counselling, personal risk factors and family history.

Access the full set of abstracts here.