This conference will discuss rare metabolic disorders, their detection, current research, disease management and treatment. With a number of sessions over three days, many aspects of the metabolome will be covered, bringing together those working in academia, medicine, biotechnology and pharmaceuticals from all over the world.

Metabolic diseases disrupt normal metabolism which is the process of converting food to energy on a cellular level. They affect the ability of the cell to perform critical biochemical reactions that involve the processing or transport of proteins, carbohydrates, or lipids.

Most metabolic diseases are inherited disorders and are caused by mutations that result in incorrectly functioning or missing enzymes that are needed for cells to perform metabolic processes. There are a large number of metabolic diseases, disorders and conditions that affect a vast array of areas of the body from the respiratory system to the eyes.

Dr. Umur A. Kayabasi, from the Lifemed Health Center in Turkey, will be discussing the “Recent Advances in the Treatment of Mitochondrial Ophthalmic Diseases.” He will be focussing on two diseases in particular: Chronic Progressive External Ophthalmoplegia and Leber’s Hereditary Optic Neuropathy. “There are extremely important developments in both conditions which were incurable until recently.  For CPEO, there is a very promising drug therapy trial going on in the US and for LHON, gene therapy trials have started in Paris”. Dr Kayabasi will be giving the initial results of these novel treatments.

Some metabolic disorders can be treated if diagnosed early and if treatment is started at a young age. However, others have no effective therapy and can cause severe problems, despite early diagnosis. Therefore there is a lot of research being conducted into novel treatments in many areas, including gene therapy.

Rare Metabolic Disorders 2016 will explore some of these new options through various talks over the three days. Dr Takis Athanasopoulos, University of London, will be speaking about “Gene and Cell therapy approaches for rare diseases,” Dr Martino Picardo, Stevenage Bioscience Catalyst, will be discussing “The role of Open Innovation in development of new therapies for rare diseases,” and Dr Adina Milac, Institute of Biochemistry of the Romanian Academy, will explore “Computational approaches to targeted drug design in metabolic diseases.”

Treating metabolic disorders requires a wholesome approach whereby non-medicinal treatment may also be needed in order to restore quality of life. Familial dysautonomia (FD) is a rare genetic disease that impairs vital functions and causes neural and motor deficiency. These deficiencies are often characterised by static and dynamic instability as well as by osteoporosis. As a result people with FD are at a high risk of falls, physical impairment and fractures.

There will be a whole session on FD with a number of speakers discussing the disease, its detection and research into treatment. As well as novel medicinal treatments, novel ways to use technology for therapeutic effects are being developed to help treat FD.

Rosalee Gefen, from The Zinman College of Physical Education & Sport Sciences in Israel, will be speaking about a new mobile application for balance training in people with Familial dysautonomia. She said “Balance training for people with FD poses unique challenges so there is a need for ways to deliver active balance training to these individuals in a safe and feasible manner. As they rely mainly on vision for balance, an iPhone application was designed to train balance by interfering with the anticipatory processing of visual information, therefore challenging the somatosensory and vestibular system to supply information.”