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Dr. Brent Fogel is a Professor in the Departments of Neurology and Human Genetics at the David Geffen School of Medicine, UCLA. He directs the Neurogenetics Clinic and the UCLA Clinical Neurogenomics Research Center , focusing on diagnosing and managing genetic neurological disorders such as cerebellar ataxia , ataxia with oculomotor apraxia , spastic paraplegia , and leukodystrophies . His research integrates genomics , bioinformatics , and neuroimaging to improve precision medicine in prenatal counseling and rare disease diagnosis. Education: MD, PhD from Medical College of Wisconsin (2003) PhD in Genetics (2001) Internship in Internal Medicine (Northwestern University, 2004) Residency in Neurology (UCLA, 2007) Fellowship in Neurogenetics (UCLA, 2009) Board Certified in Neurology (2009) Research Focus: Dr. Fogel’s work spans neurogenetics , spinocerebellar ataxia , leukodystrophy , and genomic technologies . He has pioneered gene discovery in hereditary ataxias, developed transcriptional biomarkers , and contributed to diagnostic guidelines for rare disorders. His studies on lysosomal genes in Parkinson’s disease and exome sequencing disparities address critical gaps in neurogenetic research. Key Collaborations: He leads multicenter studies with the Ataxia Global Initiative , Undiagnosed Diseases Network , and Genomics England Research Consortium . His lab ( FogelLab ) develops tools like multiWGCNA for gene network analysis.

• Neurogenetics
• Hereditary Ataxia
• Spinocerebellar Ataxia
• +7 more

Bernard Brais serves as Director of the Rare Neurological Diseases Group at the Montreal Neurological Institute-Hospital (The Neuro), which operates as a McGill University research and teaching institute and is part of the Neuroscience Mission of the McGill University Health Centre. His academic appointment at McGill University positions him within one of Canada's premier neuroscience research environments. Dr. Brais completed his MDCM, neurology residency, and PhD at McGill University, establishing his deep institutional connections. He additionally possesses specialized training as a historian of neurosciences and genetics, which informs his comprehensive approach to neurological disorders. His research program centers on the genetic basis of neurogenetic disorders with founder effects in Quebec populations, with particular emphasis on disorders exhibiting ataxic manifestations such as Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS). Since 2007, he has led a dedicated research team investigating ARSACS, building on his earlier work identifying causal genes for Oculopharyngeal muscular dystrophy (OPMD), Hereditary Sensory and Autonomic Neuropathy type II (HSANII), Limb Girdle Muscular Dystrophy with Quadriceps atrophy (LGMD2L), Pol III-related leukodystrophies, and ZAK congenital myopathy. Analysis of Dr. Brais's publication record reveals a cohesive research trajectory spanning clinical studies of disease progression, molecular genetics investigations of causal mutations, and preclinical work with animal models. His work consistently focuses on rare neurological conditions with strong genetic components, particularly those showing founder effects in Quebec populations, with substantial contributions to understanding neuromuscular disorders, ataxias, leukodystrophies, and neuropathies. As Director of the Rare Neurological Diseases research group, Dr. Brais oversees multiple research initiatives investigating various rare neurological conditions. His laboratory work integrates clinical research with basic science approaches, utilizing patient populations for clinical studies while employing cellular and animal models to elucidate disease mechanisms. His clinical work is associated with the Neuromuscular Programme at The Neuro, where he applies his research findings to patient care.

• Neurogenetics
• Rare Neurological Diseases
• Genetic Disorders
• +5 more

William Newman is a Clinical Professor of Translational Genomic Medicine at the University of Manchester and Honorary Consultant at Manchester University NHS Foundation Trust. He serves as President of the European Society of Human Genetics (2024-25) and Clinical Director of the NW Genomic Medicine Service Alliance. His roles include co-leading the BRC Theme on Rare Conditions and leading the NHSE Network of Excellence in Pharmacogenetics and Medicines Optimisation. Education: BSc (hons) Experimental Immunology and Oncology MB ChB (hons) from the University of Manchester PhD in genetics from the Wellcome Trust Cell Matrix Centre MA in Healthcare Ethics and Law Research Interests: Rare Conditions : Discovery of genetic causes using next-generation sequencing, focusing on Perrault syndrome, lower urinary tract disorders, and infection-triggered neuropathies. Pharmacogenetics : Clinical implementation of genetic testing to optimize medication responses, including the PALOH study for gentamicin-induced hearing loss prevention. Lower Urinary Tract Malformations : Studies on HPSE2 and LRIG2 genes in urofacial syndrome and bladder exstrophy, supported by the MRC-NIHR Rare Disease Node (REOLUT). Genetics of Perrault Syndrome : Identification of CLPP, MRPL49, PRORP, and DAP3 genes, exploring mitochondrial dysfunction mechanisms. Spliceosomal Disorders : Investigating craniofacial syndromes like Burn McKeown syndrome using mouse and stem cell models. Key Awards: New Statesman Healthcare Positive Impact Award 2022 Times Higher Education (THE) Research Project of the Year: STEM Award 2024 Teaching and Collaborations: Established MSc in Genomic Medicine and PGCert in Clinical Genetics with international partners. Collaborates with institutions like Newcastle University, UCL, and Cambridge on rare disease projects. Leadership in European Society of Human Genetics training programs for cardiac genetics professionals. Labs and Platforms: Manchester Centre for Genomic Medicine, Manchester Regenerative Medicine Network, and the Lydia Becker Institute.

• Pharmacogenetics
• Rare Inherited Conditions
• Genomics
• +3 more

Erik Weerts is a Clinician and Veterinary Pathologist (diplomate of the European College of Veterinary Pathologists) at Utrecht University's Faculty of Veterinary Medicine, Department of Biomolecular Health Sciences, Division of Pathology. He holds a PhD in Veterinary Medicine awarded in June 2023 for his thesis 'Coronaviruses in poultry: an ongoing pandemic?' Dr. Weerts' research focuses primarily on veterinary pathology with special emphasis on avian coronaviruses, particularly infectious bronchitis virus in poultry. His work spans comparative pathology, dual infection models, and molecular mechanisms of viral pathogenesis. He has published extensively on coronavirus-related topics, examining viral transmission, tissue tropism, host-pathogen interactions, and vaccine development. Analysis of his recent publications reveals a strong concentration on poultry diseases, particularly viral respiratory infections in chickens and turkeys. His research often examines the interplay between viral and bacterial pathogens, with significant work on infectious bronchitis virus pathogenesis and immune responses. Weerts frequently collaborates with researchers across multiple institutions, demonstrating a network spanning veterinary virology, immunology, and pathology. Diplomate of the European College of Veterinary Pathologists (February 2014) PhD in Veterinary Medicine (June 2023) Dr. Weerts performs diagnostic research including necropsies on domestic, exotic and wild animals, and biopsy examination. He has significant teaching responsibilities within the veterinary medicine program and participates in research collaborations both within and outside the Faculty of Veterinary Medicine, including heat stress in pigs and poultry studies with the Poultry Science Division and Population Health Sciences Department.

• Veterinary Pathology
• Avian Coronavirus Research
• Histopathology
• +4 more

Professor Robert Taylor is a leading academic in mitochondrial disease research at Newcastle University. His work focuses on genetic and molecular mechanisms underlying mitochondrial disorders, with contributions to understanding complex I and IV deficiencies, neurodevelopmental syndromes, and clinical-genetic correlations. He collaborates widely, publishing on topics like proteomics-based diagnostics, cerebellar degeneration mechanisms, and novel genetic variants. His research integrates clinical, biochemical, and genomic data to advance diagnostic guidelines and treatment strategies. Education/Training: Not explicitly stated in provided text. Affiliations: Newcastle University, multiple international collaborations. Research Interests: Professor Taylor’s work spans mitochondrial genetics, metabolic disorders, and translational research. Key areas include mitochondrial tRNA mutations, complex assembly defects, and applications of proteomics in variant prioritization. He investigates clinical manifestations of genetic variants, such as in RYR1, PTPMT1, and NDUFA13, and their impacts on neurological and metabolic systems. Articles Trends: Recent work emphasizes proteomic approaches for rapid variant identification, cerebellar degeneration mechanisms, and multi-omics analysis of mitochondrial dysfunction. Studies highlight clinical heterogeneity in cohorts like pediatric Egyptian patients and African populations with King-Denborough syndrome. Advising/Grants: Leads multidisciplinary teams and participates in large-scale studies like the UK National Registry of Rare Kidney Diseases. Co-authors include prominent researchers in mitochondrial medicine, indicating collaborative grant activities. Labs/Teams: Likely part of Newcastle’s Mitochondrial Research Group, contributing to diagnostic guideline development (e.g., UK Best Practice Guidelines).

• Mitochondrial Disease
• Genetics
• Genomics
• +5 more

Rancoita Paola Maria Vittoria is an Associate Professor of Medical Statistics (MED/01) at the Faculty of Medicine and Surgery, Vita-Salute San Raffaele University (UniSR), since 2022. She is actively involved in research activities at the University Center for Statistics for Biomedical Sciences (CUSSB) and serves on the Board of Directors of CUSSB (since 2016) and the Scientific Committee of CeNRI (Center for Nursing Research and Innovation, since 2016). She also participates in academic governance through multiple committees in the International MD Program (since 2020) and the Doctoral School in Public Health at the University of Milan-Bicocca (since 2020). Research Focus : Her work centers on developing and applying statistical methodologies in biostatistics and bioinformatics, including survival analysis with frailty models, repeated measures and clustered data analysis, genomic data integration via Bayesian regression, and stochastic geometry for angiogenesis image analysis. These techniques address clinical challenges like missing data handling and prognostic index identification. Academic Background : PhD in Mathematics and Statistics for Computational Sciences (2010), University of Milan Post-doctoral Researcher (2010-2011), IDSIA/IOSI Switzerland Research Fellow (2012-2013), Statistics SECS-S/01, Faculty of Psychology, UniSR Fixed-Term Researcher (2014-2021), Medical Statistics MED/01, UniSR Scientific Recognition : WHO Statistical Consultant (2022) Task Force Member, Stop TB Partnership (2020) ISBA Travel Award (2010) INdAM Fellowship (2004-2006) Leadership Roles : She served as Treasurer in the Italian Region of the International Biometric Society (2018-2021) and held leadership roles in Società Italiana di Statistica Medica ed Epidemiologia Clinica (2020-2021). Her teaching spans statistics, bioinformatics, and clinical data science across undergraduate and postgraduate programs at UniSR and Milan-Bicocca University.

• Biostatistics
• Bioinformatics
• Survival Data Analysis
• +6 more

Quasar S Padiath is a Chair and Professor in the Department of Human Genetics at the University of Pittsburgh, with a secondary affiliation in Neurobiology. He is also a member of the Center for Neuroscience (CNUP). MBBS, Kilpauk Medical College, Madras, India (1995) PhD, Indian Institute of Science, Bangalore, India (2001) Dr. Padiath's research focuses on the molecular mechanisms of neurological disorders, particularly those involving myelin formation and maintenance. His lab utilizes human genetic approaches alongside model organisms (mice, fruit flies) to study demyelinating diseases like leukodystrophies, with a special emphasis on Autosomal Dominant Leukodystrophy (ADLD) caused by Lamin B1 overexpression. His work explores lipid metabolism, nuclear lamina organization, and genetic mutations affecting myelination. The selected publications highlight his contributions to understanding the role of lamin proteins in myelin biology, identifying novel genetic variants causing leukodystrophies, and modeling neurological disorders. These studies span genetics, neurobiology, molecular biology, and pathology, with recurring themes in nuclear lamina structure and neurodegenerative mechanisms. Contact: 3115 Public Health, University of Pittsburgh | qpadiath@pitt.edu | 412-624-7203 | Curriculum Vitae

• Molecular Genetics
• Neurobiology
• Neurogenetics
• +3 more

Prof. Mirco Fanelli is a Full Professor (Professore Ordinario) at the University of Urbino Carlo Bo, Department of Biomolecular Sciences (DISB), based in Fano campus. His research and teaching focus on epigenetics, cancer biology, and molecular pathology. Teaches courses: Epigenetics and Human Diseases, General Pathology and Immunology, Molecular Pathology and Laboratory, and Translational Cancer Research Coordinates epigenetic research components in international cancer studies Active in molecular diagnostics and biomolecular sciences Research interests center on epigenetic mechanisms in cancer , including histone modifications (oncohistones), chromatin dynamics, and therapeutic applications of epigenetic findings. His work spans both basic science and translational perspectives. Key publications examine cancer-related histone mutations, X-linked neurogenetic disorders (ABCD1 gene), metal-based antineoplastic agents, and POLR3A-associated leukodystrophy. These studies reflect interdisciplinary approaches combining molecular biology, genetics, and chemistry. He leads a research group hosted at the Pathology Lab , focusing on molecular diagnostics and translational research in cancer and rare diseases.

• Epigenetics
• Cancer Research
• Molecular Pathology
• +3 more

Nadia Merchant, MD is an Assistant Professor of Pediatrics in the Division of Pediatric Endocrinology at UT Southwestern Medical Center. She joined the institution in February 2024 after completing her medical degree at Weill Cornell Medical College in Qatar. Her clinical training includes pediatric residency at Dayton Children's/Wright State University, genetics residency and pediatric endocrine fellowship at Texas Children's Hospital. Her research focuses on bone health, skeletal dysplasia, genetic growth disorders, and endocrinopathies in neuromuscular disorders. Key areas include the intersection of genetics and endocrinology, particularly in rare conditions such as achondroplasia and RASopathies. She has led clinical trials for vosoritide and denosumab in pediatric populations, emphasizing translational research and drug implementation guidelines. Her publications span over a decade, with recent work addressing novel therapies for growth disorders, iodine deficiency hypothyroidism, and endocrine surveillance in Duchenne muscular dystrophy. She actively collaborates in global initiatives like the International RASopathies Symposium to advance care for rare genetic conditions. Dr. Merchant’s work bridges clinical care and research, advocating for multidisciplinary approaches to skeletal and metabolic disorders. She contributes to consensus guidelines and serves on committees shaping pediatric endocrinology practices at UT Southwestern and beyond.

• Pediatric Endocrinology
• Bone Health
• Skeletal Dysplasia
• +3 more

Dr. Chris Duncan serves as the Director of Infectious Disease Research at the NIHR Newcastle Clinical Research Facility , affiliated with Newcastle University and Newcastle upon Tyne Hospitals NHS Foundation Trust . His work spans multiple research units, including the Clinical Ageing Research Unit and Royal Victoria Infirmary Clinical Research Unit . Focus areas: SARS-CoV-2, RSV, HIV, and immunodeficiency-related infectious diseases Key collaborations: NIHR , CNTW NHS Trust , and UK Health Security Agency Research emphasizes vaccine efficacy , immune responses , and clinical trials for viral infections. Articles analyze booster vaccines , immune correlates , and host genetic factors in disease outcomes. Notable trials include RECOVERY and Com-COV2 studies. His work intersects public health , molecular biology , and clinical therapeutics , with implications for managing infectious diseases in immunocompromised populations and healthcare settings.

• Infectious Diseases
• Vaccine Development
• Immunology
• +5 more

Ali Fatemi, MD, MBA, serves as Chief Medical Officer at Kennedy Krieger Institute and Professor of Neurology and Pediatrics at Johns Hopkins University School of Medicine. He directs the Division of Neurogenetics and the Moser Center for Leukodystrophies, holding the Blum-Moser Chair for Pediatric Neurology while leading research at the Hugo W. Moser Research Institute. Medical degree, Medical University of Vienna (1999) Post-doctoral fellowship in neurogenetics, Kennedy Krieger Institute (2001) Child neurology residency, Massachusetts General Hospital/Harvard Medical School Dr. Fatemi's research integrates bench and clinical investigations focused on white matter disorders. His laboratory pioneers oligodendroglial biology , cell-based therapies using glial restricted precursors, and nanomedicine applications for myelination disorders. Clinically, he specializes in X-linked adrenoleukodystrophy and genetic causes of cerebral palsy, with work demonstrating that genomic diagnosis significantly impacts management of neurodevelopmental disabilities. Analysis of his publication record reveals sustained focus on leukodystrophy mechanisms and therapeutic innovation , leveraging advanced neuroimaging (diffusion tensor, magnetization transfer MRI) and regenerative approaches. His interdisciplinary work bridges neurology, genetics, and nanotechnology to address rare white matter diseases. Dr. Fatemi's 2014 study in Annals of Neurology was recognized by Neurology Today as one of the year's top neurogenetics findings. He serves on the Scientific Advisory Board of the United Leukodystrophy Foundation and Drug Safety Monitoring Boards for clinical trials. As an active mentor and grant-funded investigator, he oversees translational research programs while serving on journal review panels. His leadership in the Moser Center drives collaborative efforts in leukodystrophy diagnosis and treatment development. Dr. Fatemi directs the Moser Center for Leukodystrophies research team, which includes nanomedicine specialists and neuroimaging experts developing therapies for white matter injury. His laboratory's work on glial restricted precursors and nanodendrimers represents cutting-edge approaches to myelin repair.

• Leukodystrophies
• White Matter Disorders
• Neurogenetics
• +5 more

Mohamed Farah is an Associate Professor in the Department of Neurology at the Johns Hopkins University School of Medicine. His research focuses on the cellular and molecular mechanisms of axonal regeneration and neurodegeneration, particularly in peripheral nerve injury and motor neuron diseases such as ALS. His primary research areas include: Cellular and Molecular Neuroscience Neurobiology of Disease Axonal Regeneration in the Peripheral Nervous System Motor Neuron Disease Models Human iPSC-Derived Neuron Pathobiology Dr. Farah's recent publications highlight his work on enhancing axonal regeneration through BACE1 inhibition, modeling ALS using patient-derived iPSCs, and developing microfluidic platforms for live imaging of neuronal regeneration. His studies integrate rodent models of peripheral nerve injury and neuropathy with advanced in vitro 3D neuronal spheroid cultures to investigate therapeutic strategies for accelerating nerve repair and counteracting neurodegeneration. His research has been published in high-impact journals such as Scientific Reports and Annals of Clinical and Translational Neurology , demonstrating a strong focus on translational neuroscience and preclinical therapeutic development. Dr. Farah leads an active research laboratory that employs morphological, electrophysiological, and behavioral methodologies. His lab has secured research funding (implied by ongoing projects) and collaborates with experts in neurology and translational neuroscience. He mentors junior researchers and students, contributing to training the next generation of neuroscientists. His lab is particularly known for its work on: The LTN/CMM system for studying axonal sprouting in ALS models RNA profiling of axons and somas in ALS patient-derived motor neurons Pharmacological and genetic manipulation of BACE1 and its substrates (APP, TNFR1)

• Cellular and Molecular Neuroscience
• Neurobiology of Disease
• Axonal Regeneration
• +8 more

Bradley Miller, MD, PhD is a Professor and Division Director of Pediatric Endocrinology at the University of Minnesota Medical School, with faculty appointments in the Department of Pediatrics and the Masonic Institute for the Developing Brain (MIDB). He serves as a team member at the Mucopolysaccharidosis (MPS) Center and Leukodystrophy Center, and is a practicing Pediatric Endocrinologist. Education: MD, PhD Affiliations: Department of Pediatrics, MIDB, MPS Center, Leukodystrophy Center Fields of Interest: Pediatric Endocrinology, MPS, Leukodystrophy, Neurogenetics, Developmental Biology, Genetic Metabolic Disorders Contact: Email mille685@umn.edu or call (612) 624-5409.

• Pediatric Endocrinology
• Mucopolysaccharidosis (MPS)
• Leukodystrophy
• +3 more

Professor Paola Maria Vittoria is an Associate Professor of Medical Statistics at the Faculty of Medicine and Surgery, Vita-Salute San Raffaele University (UniSR), since 2022. She actively contributes to research at the University Center for Statistics for Biomedical Sciences (CUSSB) and serves on the Scientific Committee of the Center for Nursing Research and Innovation (CeNRI). Her work spans national and international collaborations, including statistical consultancy for the World Health Organization. Research Interests : Biostatistics and bioinformatics Survival data and prognostic indices Repeated measures and missing data analysis Genomic data integration Stochastic geometry applications in angiogenesis imaging Education : Master's in Applied Mathematics (University of Milan, 2006) PhD in Mathematics and Statistics for Computational Sciences (University of Milan, 2010) Scientific Awards : ISBA Travel Award (2010) INdAM Fellowship (2004–2006) Academic Contributions : Teaching roles in Basic Medical Statistics and Applied Medical Statistics at UniSR's International MD Program Leadership in the Italian Region of the International Biometric Society (2018–2021) and COSTNET network (2016–2020)

• Biostatistics
• Bioinformatics
• Survival Data Analysis
• +5 more

Luigi Naldini is a renowned Italian scientist and academic at San Raffaele Vita-Salute University , serving as Director of the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) since 2008. Over a 25-year career, he has revolutionized gene therapy through lentiviral vector development, impacting genetic disease treatment, cancer immunotherapy, and stem cell research.

• Gene therapy
• Cell therapy
• Hematopoietic stem cells
• +6 more