جست‌وجوی استاد و پژوهشگر

Patrick Dionمشاهده پروفایل

استادیار

• Neurodegenerative Disorders
• Genetics
• Amyotrophic Lateral Sclerosis
• +۴ مورد دیگر

Patrick Dion is an Assistant Professor in the Department of Neurology and Neurosurgery at McGill University's Montreal Neurological Institute-Hospital (The Neuro). His research focuses on identifying novel genetic risk factors in neurological conditions and characterizing the underlying pathogenic events associated with these risk factors. Dr. Dion received his academic training at Canadian institutions: M.Sc. (1987-1989) at Université de Sherbrooke Ph.D. (1990-1995) at Université de Montréal Post-doctoral research at Hospital for Sick Children in Toronto (1995-96) Post-doctoral research at Centre for Research in Neuroscience of McGill University (2014-2016) Dr. Dion's research primarily focuses on neurodegenerative disorders , with particular emphasis on amyotrophic lateral sclerosis (ALS) , essential tremor , and restless legs syndrome . His work on the nuclear pore component, Gle1, in ALS opened new avenues for examining nuclear-cytoplasmic export defects where Gle1 is mislocalized. His research combines genetic analysis with molecular biology to identify and characterize genetic risk factors in neurological conditions, contributing significantly to our understanding of disease mechanisms. Analysis of Dr. Dion's publication record reveals a strong focus on genetic studies of neurodegenerative disorders. His work spans genome-wide association studies, identification of novel genetic variants, and characterization of pathogenic mechanisms. The predominant fields covered in his research include ALS genetics, movement disorders, and the molecular mechanisms underlying neurological conditions, with a particular emphasis on protein mislocalization and genetic susceptibility factors. Dr. Dion is actively involved in research related to neurodegenerative disorders through his membership in the Neurodegenerative Disorders Research Group at The Neuro. His collaborative work has resulted in numerous publications in high-impact journals, demonstrating his significant contributions to the field of neurological genetics and his commitment to advancing our understanding of complex neurological diseases.

Bo Yuanمشاهده پروفایل

دانشیار

• Genetics
• Genomics
• Clinical Genetics
• +۴ مورد دیگر

Bo Yuan is an Associate Professor at the Department of Molecular and Human Genetics, Baylor College of Medicine, specializing in genetics and genomics. His research focuses on copy number variants (CNVs), Mendelian disorders, and neurodevelopmental genetics. Education : BS from Nankai University (2009), PhD from Baylor College of Medicine (2015), Postdoctoral Fellowship at Baylor College of Medicine (2019). Bo Yuan’s research explores the genetic basis of congenital disorders, variant interpretation, and clinical exome sequencing. He has contributed significantly to understanding CNVs in autosomal recessive diseases and genomic medicine applications. His recent publications highlight advancements in AI-driven diagnostics, variant prioritization, and genetic mechanisms in neurodevelopmental and immunological conditions. Key areas include Mendelian disorders, haploinsufficiency, and genomic architecture. Memberships : American Society of Human Genetics (Member, 2013), American College of Medical Genetics (Member, 2018).

Vernon R Suttonمشاهده پروفایل

استاد

• Medical Genetics
• Clinical Genetics
• Biochemical Genetics
• +۱۲ مورد دیگر

Dr. Vernon R Sutton, M.D. is a full-time Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine, where he also serves as Vice Chair for Graduate Medical Education. He is the Medical Director of Biochemical Genetics at Baylor Genetics and directs the Medical Genetics Residency & Fellowship Programs at BCM. Additionally, he directs the Inborn Errors of Metabolism Service at Texas Children’s Hospital. Education: B.A. from Transylvania University, Kentucky (1988) M.D. from University of Kentucky College of Medicine (1992) Residency: Pediatrics, Washington University Affiliate Hospitals (1996) Fellowship: Medical Genetics, Baylor College of Medicine (1999) Research Interests: Dr. Sutton’s research is anchored in clinical genetics and biochemical genetics, with a strong emphasis on gene discovery, genotype–phenotype correlations, and metabolomics. He has defined the phenotypic spectra for numerous syndromes including Robinow, White-Sutton, Aicardi, Goltz, and osteogenesis imperfecta. His laboratory was the first in the world to offer large-scale clinical metabolomic profiling, revolutionizing the screening and diagnosis of inborn errors of metabolism. As Principal Investigator of the NIH-funded Brittle Bone Disorders Consortium, he leads longitudinal multicenter studies of osteogenesis imperfecta, integrating patient-reported outcomes, imaging, molecular diagnostics, and therapeutic trials. Research Trends in Recent Publications: Across his 15 most recent papers, Dr. Sutton consistently bridges deep phenotyping with cutting-edge omics technologies. Topics span untargeted metabolomics for metabolic disease screening, skeletal phenotyping in Robinow syndrome, patient-centered outcome measures for osteogenesis imperfecta, and mechanistic dissection of WNT signaling perturbations. His work highlights a translational pipeline that moves from bedside observation to bench discovery and back to improved clinical care. Scientific Awards & Honors: American Board of Medical Genetics & Genomics – Certified in Clinical Genetics American Board of Medical Genetics & Genomics – Certified in Clinical Biochemical Genetics Fellow, American College of Medical Genetics and Genomics (FACMG) Member, American Society of Human Genetics Member, International Skeletal Dysplasia Society Member, Society for Inherited Metabolic Disorders Leadership & Grant Support: Principal Investigator, Brittle Bone Disorders Consortium, Rare Diseases Clinical Research Network (multi-site NIH NCATS, NICHD, NIDCR, NIAMS & NIMH funding) Clinical Director, Baylor Center for Genomic Research to Elucidate the Genetics of Rare Disorders (GREGoR) – NIH/NHGRI Director, Medical Genetics Residency & Fellowship Programs, Baylor College of Medicine Medical Director, Biochemical Genetics Laboratory, Baylor Genetics Laboratory & Clinical Teams: Dr. Sutton leads a multidisciplinary team at the Biochemical Genetics Laboratory of Baylor Genetics that develops and deploys high-throughput metabolomic assays. He mentors residents and fellows in the Medical Genetics training programs and collaborates closely with the Brittle Bone Disorders Consortium and the GREGoR consortium, fostering a rich environment for translational research and education.

Bakri Alzarkaمشاهده پروفایل

استادیار

• Pediatric Nephrology
• Inherited Renal Disorders
• Chronic Kidney Disease
• +۴ مورد دیگر

Bakri Alzarka, M.D., is an Assistant Professor in the Department of Pediatrics at the University of Maryland School of Medicine, with a clinical focus on pediatric nephrology. He also serves as the Interim Division Head of Pediatric Nephrology, overseeing administrative responsibilities. Education: University of Aleppo- Faculty of Medicine (MD, 2010); Joan C Edwards School of Medicine at Marshall University (Internship, Residency, 2013–2015); Children's National Medical Center (Fellowship, Pediatric Nephrology, 2018); George Washington University School of Medicine and Health Sciences (MS, Clinical and Translational Research, 2018). Dr. Alzarka specializes in inherited renal disorders, with clinical interests spanning congenital kidney anomalies, chronic kidney disease, hypertension, electrolyte disorders, and kidney transplantation. His research has contributed to understanding hepatorenal fibrocystic diseases, including the development of centralized clinical databases for rare kidney conditions. He is actively involved in professional societies such as the American Society of Nephrology, American Society of Pediatric Nephrology, and American Society of Transplantation. The highlighted article (2017) reflects his work on clinical database systems for autosomal recessive polycystic kidney disease, emphasizing data integration for longitudinal patient studies and translational applications.

• Ocular Genetics
• Inherited Retinal Diseases
• Retinal Dystrophies
• +۳ مورد دیگر

Suzanne Broadgate is a Postdoctoral Researcher (Researcher) at the Nuffield Department of Clinical Neuroscience, University of Oxford, and an active member of the United Kingdom Inherited Retinal Disease Consortium. Her work focuses on identifying disease-causing genes for inherited retinal dystrophies using next-generation sequencing techniques applied to patient data from Oxford Eye Hospital. Her educational background includes: BSc (Hons) in Experimental Pathology from the University of Glasgow (final-year research on Six gene family expression in the eye) PhD in Genetics from UCL Institute of Ophthalmology Dr. Broadgate's research centers on ocular genetics with emphasis on inherited retinal diseases, particularly macular dystrophies and diabetic macular oedema. She employs whole exome/genome sequencing to characterize retinal maintenance genes and establish molecular diagnoses, directly linking genetic findings to therapeutic target identification. Her methodology integrates clinical data with advanced genomic analysis to elucidate retinal physiology in health and disease. Analysis of her publications (2005-2020) reveals a strategic evolution from foundational molecular biology (murine Cds genes, FGFR3 neurodevelopment) to specialized ocular genetics. Recent work demonstrates expertise in genotype-phenotype correlations for BEST1/EYS variants, underrepresentation of diabetic macular oedema in genetic studies, and novel mutation identification in ARL2BP. Key trends include increasing focus on next-generation sequencing applications and translational research connecting genetic diagnoses to therapeutic development. Dr. Broadgate has not been documented as receiving scientific awards. As a consortium member, she contributes to large-scale genomic analysis projects without individual grant leadership. Her collaborative work with Oxford Eye Hospital clinicians emphasizes patient-centered molecular diagnostics, though no student mentorship activities are referenced. Current efforts prioritize expanding the genetic understanding of retinal diseases through consortium-driven data sharing. Her laboratory work centers on next-generation sequencing data analysis within the United Kingdom Inherited Retinal Disease Consortium framework, leveraging institutional resources at Nuffield Department of Clinical Neuroscience for genomic interpretation and target validation.

Zsolt Urbanمشاهده پروفایل

دانشیار

• Genetics of connective tissue disorders
• Cutis laxa
• Supravalvular aortic stenosis
• +۶ مورد دیگر

Zsolt Urban, PhD is an Associate Professor in the Department of Human Genetics at the University of Pittsburgh Graduate School of Public Health. His research focuses on the genetic causes of rare, inherited connective tissue and cardiopulmonary disorders, with particular interest in cutis laxa, supravalvular aortic stenosis, Williams-Beuren syndrome, and arterial tortuosity syndrome. His work helps with the diagnosis, management, and counseling of affected individuals and families. Dr. Urban received his MS in Molecular Biology and Biotechnology from the University of Szeged in Hungary (1992), followed by a PhD in Biology from Semmelweis University in Budapest (1997). He completed postdoctoral training in Molecular Genetics at the University of Hawaii (2001). His research program employs human cells, tissues, zebrafish, and mouse models to understand the molecular, cellular, and developmental mechanisms connecting DNA variants to disease phenotypes. The laboratory develops freely available resources to educate professional and lay community members about rare diseases in their research portfolio. Dr. Urban's long-term goal is to develop targeted treatments for the diseases under investigation. Analysis of Dr. Urban's publication record reveals a sustained focus on elastin biology, connective tissue disorders, and cardiovascular genetics. His work spans basic molecular mechanisms of elastic fiber formation to clinical applications for diagnosis and potential treatment strategies. The research demonstrates strong interdisciplinary collaboration across genetics, dermatology, cardiology, and pulmonary medicine. Dr. Urban teaches several courses in the Human Genetics program including HUGEN 2038 Human Genetics Journal Club and Peer Review, HUGEN 2032 Genetic Techniques, HUGEN 2040 Molecular Basis of Human Inherited Disease, and HUGEN 3020 Doctoral Research and Professional Skills Development. His laboratory maintains the Cutis Laxa Resource website (cutislaxa.pitt.edu), providing educational materials about rare connective tissue disorders. The research group collaborates with investigators to apply their expertise to diverse projects on obesity, renal, cardiovascular, pulmonary, and infectious diseases.

Peter van Tintelenمشاهده پروفایل

استاد

• Inherited Cardiomyopathies
• Genetic Cardiology
• Molecular Genetics
• +۴ مورد دیگر

Peter van Tintelen is a Full Professor at Utrecht University, affiliated with strategic programs including Cancer , Child Health , and Circulatory Health . His research focuses on inherited heart diseases, particularly cardiomyopathies and arrhythmias. Key research areas include: Gene and variant identification in inherited cardiomyopathies Disease mechanisms and outcome modifiers Therapy optimization and novel treatment exploration Genetics-first approaches to arrhythmogenic cardiomyopathy Chemotherapy-induced cardiotoxicity modeling His recent publications highlight interdisciplinary work bridging genetics, cardiology, and translational medicine. Notable external roles include board membership at Cardio Genetica and advisory positions in Dutch cardiovascular research foundations.

• Genetics
• Genomics
• Pediatrics
• +۶ مورد دیگر

Benjamin Kamien is a Clinical Senior Lecturer at the University of Western Australia Medical School in the Pediatrics department. His research focuses on genetic and genomic mechanisms underlying congenital disorders and perinatal death. University: University of Western Australia School: Medical School Department: Pediatrics Academic Rank: Senior Lecturer Research Interests: Kamien's work spans genetics, genomics, and molecular biology with an emphasis on Mendelian syndromes, genotype-phenotype correlations, and clinical applications of genomic sequencing. He investigates conditions like CTNND1-related blepharocheilodontic syndrome and BRAT1-related neurogenetic disorders. Publications: Recent articles highlight his contributions to understanding genitourinary anomalies in genetic syndromes, refining genomic autopsy methodologies, and characterizing novel phenotypes through international collaborative studies. Collaborations: Kamien engages in cross-institutional research networks, including the Broad Institute Center for Mendelian Genomics and Genomic Autopsy Study Research Network, with active global participation in patient cohort analyses.

• Stem Cell Research
• Genetics
• Molecular Biology
• +۳ مورد دیگر

Khine Zaw is an Adjunct Research Fellow at the UWA Medical School , affiliated with the Centre for Ophthalmology and Visual Science (linked to the Lions Eye Institute) at The University of Western Australia. Their research focuses on stem cell biology, genetics, and ophthalmology. Contact: khine.zaw@uwa.edu.au . Key Research Interests: Induced Pluripotent Stem Cells CDH23 gene mutations in inherited diseases Stem cell line generation Autosomal recessive inheritance patterns Karyotyping for genetic stability Publication Trends : Recent work centers on creating stem cell models for genetic eye disorders, particularly leveraging iPSC technology to study CDH23 variants implicated in autosomal recessive conditions.

Richard Alan Lewisمشاهده پروفایل

استاد

• Genetic Disorders
• Hereditary Eye Diseases
• Medical Genetics
• +۳ مورد دیگر

Richard Alan Lewis, M.D., M.S., is a Professor at Baylor College of Medicine, holding concurrent roles in the Departments of Molecular and Human Genetics, Ophthalmology, Medicine, Pediatrics, and affiliated institutes such as the Huffington Center on Aging and Dan L Duncan Comprehensive Cancer Center. His research focuses on hereditary eye disorders, genetic systemic diseases, and ocular manifestations of systemic hereditary conditions. He has pioneered genetic mapping for X-linked ocular disorders, including retinitis pigmentosa and Lowe syndrome, and collaborated extensively on studies of syndromes like Bardet-Biedl and Usher. Education: BA from Harvard College (1965), MD and MS from the University of Michigan (1969 and 1974). Professional affiliations include the Cullen Eye Institute and leadership roles in the National Eye Institute’s eyeGENE Program and the Undiagnosed Diseases Network. Key contributions include defining digenic triallelic inheritance in LMBBS and leading the AREDS2 trial on nutritional supplements for macular degeneration. His grants include the 25-year Studies of the Ocular Complications of AIDS (SOCA) and the AREDS2 clinical trial. Collaborations span interdisciplinary teams at Baylor, focusing on genetic diagnostics and rare disease mechanisms. He remains active in clinical practice, advising on genetic eye diseases and systemic associations.

• Genetics
• Ophthalmology
• Inherited Retinal Diseases
• +۳ مورد دیگر

Pam Heutinck serves as a Researcher in the Department of Ophthalmology at Erasmus University Rotterdam (Erasmus MC), specializing in the genetic and imaging analysis of inherited retinal disorders. Her work bridges clinical ophthalmology with molecular genetics, focusing on diagnostic and therapeutic innovations. Her primary research interests include Genetics (particularly exome sequencing applications), Inherited Retinal Diseases (autosomal recessive/dominant forms), Adaptive Optics Imaging for photoreceptor analysis, and Optic Neuropathy mechanisms. Recent investigations explore population-specific genetic variants in Iranian cohorts, comparative analyses of WFS1 versus OPA1 mutations, and novel pharmacological approaches using somatostatin analogues for macular complications. Analysis of her 2024-2025 publications reveals a cohesive research trajectory centered on genetic diagnostics for retinal dystrophies and high-resolution imaging techniques. Key trends include: (1) expanding exome sequencing applications across diverse populations; (2) leveraging adaptive optics for cellular-level retinal pathology assessment; (3) developing targeted therapies for macular complications in inherited diseases. This work consistently integrates molecular genetics with advanced ophthalmic imaging modalities. Dr. Heutinck maintains extensive collaborative networks across Erasmus MC departments and international institutions, as evidenced by multi-institutional publications involving Iranian research teams, European genetic consortia, and cross-specialty clinical partnerships. Her fingerprint confirms dominant contributions in Genetics (100% research footprint), Ophthalmoscopy (92%), and Exome Sequencing (66%), with significant impact in Optical Coherence Tomography (61%) and Photoreceptor morphology (57%).

• Genetics
• Molecular Biology
• Genomics
• +۳ مورد دیگر

Prof. Arthur Bergen is a Professor at the Department of Pathology within Erasmus MC, part of Erasmus University Rotterdam. His research focuses on genetic and molecular mechanisms underlying retinal disorders, particularly gyrate atrophy, inherited retinal dystrophies, and choroid plexus biology. Key topics include whole genome sequencing, genetic variants, and cellular pathways affecting vision. He collaborates internationally on large-scale studies like the RD5000 Consortium and has contributed to understanding refractive errors through genome-wide analyses. Research interests emphasize translational applications of genomic data to inherited ocular diseases. His work bridges basic science and clinical insights, with publications in high-impact journals like Nature Genetics and PLoS ONE. Bergen is active in multidisciplinary teams addressing genetic underpinnings of retinal pathology and systemic implications of choroid plexus function.

John Chiltonمشاهده پروفایل

دانشیار

• Medical Education
• Neuroscience
• Cell Biology
• +۷ مورد دیگر

Dr. John Chilton is an Associate Professor of Bioscience Communication at the Peninsula Medical School , University of Plymouth, and serves as Associate Head of School for Admissions, Marketing, and Recruitment . His academic roles include leading biochemistry education and integrating interdisciplinary approaches like Enquiry-Based Learning (EBL) and Braingineering into medical curricula. He co-created Wordotomy , an educational game for teaching healthcare terminology widely adopted in medical schools and distributed globally via Focus Games. His research focuses on neurobiology , cell signaling , and medical education innovation . Key areas include CLCC1 protein interactions in retinal degeneration, astrocyte metabolic responses to inflammation, and axon guidance mechanisms in neural development. His work contributes to UN Sustainable Development Goal 3 (Good Health and Well-being) through advancing medical education equity and scientific breakthroughs in neurodegenerative diseases. Recent studies explore pandemic impacts on student well-being (2024), gamification in anatomy outreach (2025), and genetic mutations linked to motor neuropathies and dystonic tremors. His interdisciplinary approach bridges basic science, clinical education, and technology-driven learning tools. Dr. Chilton champions widening access to higher education , designing admissions strategies that foster inclusivity. His collaborations span academia and industry, notably with Focus Games for educational game distribution.

• Neurodegenerative Diseases
• Mitochondrial Genetics
• Genetic Disorders
• +۳ مورد دیگر

Dr. Michael Keogh is a Researcher at Newcastle University, contributing to neurogenetic and mitochondrial disease research. His work focuses on genetic mechanisms underlying neurodegenerative diseases, mitochondrial dysfunction, and brain iron accumulation. He has collaborated extensively with experts in neurology and genetics, publishing widely on topics such as Alzheimer's disease, Lewy body dementia, and genetic variants linked to neurological disorders. His research interests include understanding the role of genetic mutations (e.g., PLCG2, STXBP1, SCP2) in disease etiology, mitochondrial DNA variations, and the molecular pathways driving neurodegeneration. Recent studies have explored hereditary ferritinopathies, oligogenic genetic interactions, and the clinical implications of exome sequencing in undiagnosed ataxias. Dr. Keogh’s publications highlight a focus on translational research, including the development of diagnostic tools like the SVI variant interpretation system. His work bridges basic science and clinical applications, contributing to both mechanistic understanding and potential therapeutic avenues in neurodegenerative diseases.

Anneke den Hollanderمشاهده پروفایل

استاد

• Ophthalmology
• Disease modeling
• Functional genomics
• +۸ مورد دیگر

Anneke den Hollander is currently Head of Functional Genomics and Cellular Genomics at the Genomic Research Center in Cambridge, MA, USA. Previously, she served as Full professor (90% Ophthalmology, 10% Human Genetics) at Radboudumc, Nijmegen, Netherlands from 2014 to 2021, and Associate professor from 2009–2014. Her research focuses on ophthalmology, functional genomics, and inherited retinal dystrophies. Education: PhD (cum laude) in Human Genetics from Radboud University (2002), MSc in Biomedical Sciences from Leiden University (1996). Research Interests: Disease modeling, genomics, age-related macular degeneration, and serum biomarkers. Her work bridges clinical ophthalmology with genomic technologies to understand inherited eye disorders and develop diagnostic tools. Awards: Includes the 2023 President’s Award (AbbVie), 2017 VICI Award (NWO), and 2015 Cogan Award (ARVO). She has secured over €5.2M in personal research funding and contributed to €14.9M as co-applicant. Leadership & Grants: Founded Radboudumc’s Expert Center for Hereditary Blindness (2015). Served on NWO’s Translational Adult Stem Cell Research review committee and editorial boards for PLoS ONE and Molecular Vision . Organized international conferences on genetic eye diseases and therapeutic developments. Labs/Teams: Leads the Functional Genomics team at Genomic Research Center and previously directed ophthalmogenetic research at Radboudumc. Supervised 15 completed PhD students (2 cum laude) and currently advises 9 doctoral researchers.