An integrated platform for neuromuscular diseases in Serbia, the Serbian Neuromuscular Disease Network, NMD-SerbNet, was officially launched on 1 November 2014 during SERBORDISinn and the 2014 GoldenHelix Symposium "Genomics of Rare Diseases" held in Belgrade, Serbia. Adult and pediatric clinicians and basic science researchers from several institutions have joined forces to collaborate in the network including, Clinic for Neurology and Psychiatry for Children and Youth (Faculty of Medicine, University of Belgrade), Neurology Clinic (Clinical Center of Serbia, Faculty of Medicine, University of Belgrade), Clinical Hospital Center Zemun, Center for Human Molecular Genetics (Faculty of Biology, University of Belgrade), Institute of Human Genetics (Faculty of Medicine, University of Belgrade) and Institute for Molecular Genetics and Genetic Engineering (University of Belgrade).
The main goal of NMD-SerbNet is to improve diagnosis, research and therapy of neuromuscular disorders in Serbia through the synchronization of activities and systematic connection of detailed clinical and genetic information, biomaterial availability and research datasets related to Serbian patients. By increasing the number of neuromuscular diseases fully diagnosed in Serbia, engaging with other Serbian clinicians and researchers, and strengthening the links with patient organizations NMD-SerbNet will ultimately bring benefit to patients suffering from these disabling diseases.
More information related to the NMD-SerbNet, Serbian patient registries, available genetic tests and biomaterial, and ongoing research activities can be obtained by contacting Snezana Kojic at email@example.com.
Genetic tests for neuromuscular diseases currently available in Serbia
|Disease||Gene/Type of analysis||Laboratory|
|Duchenne and Becker muscular dystrophy (DMD/BMD)||
DMD duplication and deletionshaplotype analysis
|Myotonic dystrophy (DM1)||DMPK||CHMG/NC|
|Myotonic dystrophy (DM2)||CNBP (ZNF9)||CHMG|
|Limb girdle muscular dystrophy 2A (LGMD2A)||CAPN3||NC|
|Congenital cataracts, facial dysmorphism and neuropathy (CCFDN)||CTDP1||CHMG|
|Neuromyotonia and axonal neuropathy (NMAN)||HINT1||CHMG|
|Hereditary Neuropathy with liability to Pressure Palsies (HNPP)||PMP22 deletion||CHMG/NC|
|Congenital myasthenic syndrome (CMS)||CHRNE||CHMG|
|Spinal muscular atrophy (SMA)||SMN1||CHMG|
|Amyotrophic Lateral Sclerosis 1 (ALS1)||
Frontotemporal Dementia and/or
|Amyotrophic Lateral Sclerosis (FTDALS1)|
|Kennedy’s disease (SBMA)||AR||CHMG/NC|
|Mitochondrial disorders||mtDNA sequencing||NC|
|Myoclonic epilepsy with ragged-red fibers (MERRF)||MT-TK||CHMG|
¨Center for Human Molecular Genetics, Faculty of Biology, University of Belgrade£Neurology Clinic, Clinical Center of Serbia, Faculty of Medicine, University of Belgrade