Find Academic Supervisors

• Neurology
• Neuromuscular Disorders
• Medical Genetics
• +5 more

Prof. Ivailo Tournev, DSc, MD, is a distinguished Professor at Medical University - Sofia and New Bulgarian University (NBU), where he served as Head of the Department of Cognitive Science and Psychology (2013-2016) and currently serves on NBU's Governing Board. His career spans over three decades in neurology, neuromuscular disorders, and medical genetics, with current leadership roles including Head of the Clinic of Nervous Diseases at Alexandrovskа University Hospital and Director of the Expert Center for Genetic Nervous and Metabolic Diseases. Medical University - Sofia: Professor of Neurology (2006-present), Head of Nervous Diseases Clinic (2010-present) New Bulgarian University: Professor of Cognitive Science and Psychology (2008-present), Former Department Head (2013-2016) Professional Affiliations: World Society of Neuromuscular Disorders, European Consortium for Neural Muscle Atrophy, Bulgarian Neurological Society Prof. Tournev's research focuses on the intersection of neurology, genetics, and ethnic health disparities, particularly among Roma populations. His work has established Bulgaria as a global hub for studying founder-effect neuromuscular disorders in Romani communities. Key research areas include hereditary neuropathies, muscular dystrophies, epilepsy genetics, Wilson's disease, and rare genetic disorders. His laboratory pioneered the identification of multiple novel disease entities including CCFDN syndrome and Lom neuropathy, with over 65 research projects funded by international organizations including the European Commission, Muscular Dystrophy Association, and Wellcome Trust. His publication record includes over 80 peer-reviewed articles in high-impact journals such as Nature Genetics , Brain , and Annals of Neurology , with recent work emphasizing next-generation sequencing approaches, genotype-phenotype correlations in neuromuscular disorders, and translational applications for rare diseases. Prof. Tournev has secured over €15 million in research funding throughout his career, with current projects focusing on transthyretin amyloidosis, ALS genetics, and retinal degeneration diagnostics. Merril Spencer Award (European Society of Neurosonology) National Medical Award for Lifetime Achievement (2018) "Pitagor" Award from Ministry of Education for Exceptional Contributions to Medicine Golden Coin "Pismenost" from European Scientific and Cultural Community Council Honorary Citizen of Lom (2015) Prof. Tournev has mentored 18 PhD students to completion, with current advisees focusing on spinocerebellar ataxias, spastic paraplegias, and epilepsy genetics. His research team operates within the National University Biomedical Services Complex, collaborating with international consortia including TREAT-NMD and CARE-NMD. Current initiatives include establishing Bulgaria's first comprehensive neuromuscular registry and developing precision medicine approaches for hereditary neurological disorders through the MYO-SEQ project.

Thomas HaafView profile

Professor

• Epigenetics
• Genome Reprogramming
• Congenital Hearing Impairments
• +8 more

Thomas Haaf is a University Professor (Professor) at the Institute of Human Genetics, University of Würzburg. He earned his MD (summa cum laude) from the University of Würzburg in 1985 and habilitation in 1989. After postdoctoral research at Stanford and Yale (1989-1995) and a research group leadership at the Max Planck Institute for Molecular Genetics (1995-2001), he held the chair of human genetics at Mainz University Hospital (2001-2009) before returning to Würzburg in 2009. Research Interests: Epigenetic genome reprogramming and its role in developmental origins of health and disease (DOHaD) Impact of assisted reproductive technologies (ART) on epigenetic stability in offspring Paternal age and obesity as epigenetic risk factors for intergenerational disease Genetic basis of congenital hearing impairments and monogenic disorders Epigenetic effects of maternal gestational diabetes on fetal metabolism Article Trends: His research spans epigenetics, reproductive biology, and developmental disorders. Recent work focuses on DNA methylation dynamics in ART, paternal factors, and imprinted gene regulation. Collaborations with families from Turkey, Iran, and Pakistan have advanced understanding of autosomal recessive hearing loss. Scientific Awards: Heisenberg Scholarship Science Prize of the German Society for Human Genetics Advising & Collaborations: He leads a research group at Würzburg and has mentored students like Dr. Ramya Potabattula and Laura Bernhardt. His work utilizes animal models (New World monkeys, cattle, mice) and cross-institutional partnerships.

• Genetics
• Genomics
• Whole-exome sequencing
• +6 more

Thomas Kitzler is a Scientist at the Montreal University Health Centre (IR-MUHC) and an Assistant Professor in the Department of Human Genetics at McGill University . His research focuses on genetic and genomic mechanisms of kidney diseases , particularly congenital anomalies of the kidney and urinary tract (CAKUT) , focal segmental glomerulosclerosis , and renal ciliopathies . Affiliations : Center for Translational Biology Child Health and Human Development Program Division of Genetics, MUHC His laboratory utilizes whole-exome sequencing , zebrafish models , and patient-derived cell systems to uncover novel disease genes and pathways. Recent publications highlight discoveries in COL4A1 , ZMYM2 , and C2CD3 mutations linked to renal and neurodevelopmental disorders. Dr. Kitzler actively contributes to genetic characterization of nephrotic syndromes and polycystic kidney diseases , with a focus on precision medicine approaches for kidney transplant recipients and circulating podocyte-toxic factors in recurrent glomerular diseases. His work demonstrates interdisciplinary integration of clinical, genomic, and functional validation methods.

• Neurology
• Neuromuscular Diseases
• Autoimmune Disorders
• +3 more

Carmelo Rodolico is a Full Professor of Neurology at the University of Messina, serving as Director of the Complex Operational Unit of Neurology and Neuromuscular Diseases at University Hospital 'G. Martino' since 2022. He additionally heads the Regional Reference Center for Myasthenia (established 2012) and previously held leadership roles in the Italian Association of Myology (2015-2021). His dual academic-clinical career focuses on rare neuromuscular disorders with significant national healthcare impact. Professor Rodolico's research centers on autoimmune and genetic neuromuscular diseases, particularly congenital myasthenic syndromes, Pompe disease, and muscular dystrophies. His work spans clinical phenotype characterization, genetic discovery (including GFPT1 and TRPV4 mutations), biomarker development, and therapeutic strategy optimization. He actively contributes to European research networks and maintains collaborations with institutions across the EU and USA for multicenter studies of rare neurological conditions. His recent publications demonstrate consistent focus on long-term disease management in Pompe and GNE myopathies, FSHD epigenetics, ATTRv amyloidosis biomarkers, and immunotherapy-related neurotoxicity. The research emphasizes clinical translation through multicenter collaborations, natural history studies, and diagnostic protocol improvements for rare neuromuscular disorders. Professor Rodolico teaches Neurology in Physiotherapy and Audioprosthesis programs while leading clinical care through his hospital directorship. His guideline contributions for myasthenia management and active participation in multicentric trials indicate substantial research funding and clinical influence. The Regional Reference Center under his leadership serves as a national resource for complex myasthenia cases. He directs the Morphofunctional Characterization Laboratory of Neuromuscular Diseases, which integrates clinical, genetic, and morphofunctional analyses to study disease mechanisms and experimental therapies. His parallel leadership of the Autoimmune/Genetic Neurological Disorders Study Group creates a multidisciplinary research environment spanning headache, dementia, and movement disorder research alongside core neuromuscular work.

Sam Nicholas RussoView profile

Assistant Professor

• Neurometabolic disorders
• Pediatric neurogenetic disorders
• Pediatric neurodegenerative disorders
• +7 more

Sam Nicholas Russo, MD is an Assistant Professor in the Division of Child and Adolescent Neurology at McGovern Medical School, The University of Texas Health Science Center at Houston. His clinical and research work focuses on complex pediatric neurological conditions with metabolic and genetic underpinnings. Research Interests: Neurometabolic disorders including Wilson's Disease and mitochondrial disorders Pediatric neurogenetic conditions such as Juvenile Huntington Disease and Ataxia telangiectasia Neurodegenerative disorders of childhood Management of pediatric movement disorders including spasticity and dystonia Diagnostic approaches to rare metabolic neurological presentations Recent Publication Trends: Dr. Russo's research demonstrates consistent focus on rare neurological disorders with recent work (2020-2025) examining genetic variants in mitochondrial disorders (POLG, DNAJC30), novel treatments for metabolic conditions, and diagnostic imaging patterns in leukodystrophies. His publications bridge clinical neurology with molecular genetics, particularly in pediatric populations. Certifications: American Board of Psychiatry and Neurology certification in Neurology with Special Qualifications in Child Neurology (2021) Training Background: Completed all medical training at McGovern Medical School including MD (2016), Pediatric Neurology Residency (2018), Pediatric Neurology Fellowship (2021), and specialized Neurometabolic and Neurogenetic Disorders Fellowship (2022). This specialized fellowship training positions him at the intersection of pediatric neurology and metabolic genetics.