EJP on Rare Diseases InfoDay and Brokerage Event

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Afyonkarahisar Health Sciences UniversityMuhsin Elmas

ABOUT US

My name is Muhsin. I m from Afyonkarahisar/Turkey. I have been working in Medical Genetics for 10 years. During this time, I created an

archive of genetic diseases. I have many clinical, laboratory, radiological, genetic data of around 1700 patients. In the list below, I'm

posting these patient groups that I have in my archive. About 540 patients in my archive have a definite genetic diagnosis.

OUR RESEARCH INTEREST-2

• Followed by a clinical prediagnosis 1700 Diagnosed by cytogenetic and / or molecular analysis 541 Genome Mutations 277• Gene Mutations 197 Neurological diseases group 951 Endocrine

disease group 118 Cardiac disease group 185 Disease group withmultiple congenital anomalies 51 Dermatogenetic disease group 36 Ophthalmogenetic disease group 73 Skeletal dysplasia disease group178 Disease group with genital anomaly 26 Others (GIS anomalies, hematology, oncology) 81

Consulting for rare disease(Service)

• I can provide clinical information about rare disease in Turkey. (inheritance model, disease phenotypes, laboratuary results, radiologic results, natural history, current diagnostic and management practices, physician perspectives, etc.)

OUR PROJECT IDEA-1

• Project Title: Advanced diagnostic genetic analysis.• Objectives:

There is a group of patients that we cannot diagnose despite many tests.

We performed chromosome analysis, microarray analysis, WES analysis and still could not make molecular diagnosis.

1) I would like to collobarate to investigate these patients with NGS / WGS technique.

2)Probably find a new candidate gene and do cell culture and function studies for it.

OUR PROJECT IDEA-2

• Multi-omic approach to Charcot-Marie-Tooth (CMT) Hereditary Neuropathy• Charcot-Marie-Tooth (CMT) hereditary neuropathy refers to a group of disorders

characterized by a chronic motor and sensory polyneuropathy, also known as hereditary motor and sensory neuropathy (HMSN). Individuals with CMT manifest symmetric, slowly progressive distal motor neuropathy of the arms and legs usually beginning in the first to third decade and resulting in weakness and atrophy of the muscles in the feet and/or hands. The affected individual typically has distal muscle weakness and atrophy, weak ankle dorsiflexion, depressed tendon reflexes, and pes cavus foot deformity (i.e., high-arched feet). More than 80 different genes are associated with CMT. Information on 74 of the known CMT-associated genes including mode of inheritance and neuropathy type (axonal, demyelinating, and dominant intermediate). On the one hand, we have patients with CMT, whose genetic defect remains elusive. We plan to use genomic tools to identify new genes and new disease mechanisms. On the other hand, we believe that many other patients with symptoms that fit with CMT (like weakness, ataxia, numbness of the extremities, tingling, distal muscle atrophy etc.), may have a CMT that presently escapes diagnosis because the diagnostic tools are insufficient. We will work to develop new biomarkers based on proteomics, peptidomics and metabolomics.

Current and Required Partners

No Partner Name Type Country Role in the Project

01 Univ.02 SME

03 Ind.

040506

07

08

THANK YOU…

• drmelmas@gmail.com• Afyonkarahisar Health Sciences University

Medical Genetic Department