جست‌وجوی استاد و پژوهشگر

• Clinical Neurology
• Dementia
• Neurodegenerative Disorders
• +۳ مورد دیگر

Associate Professor Elizabeth McCusker is an Adjunct Associate Professor in the Department of Medicine at the University of Sydney’s Westmead Clinical School. Her work focuses on neurology, particularly Huntington’s Disease (HD), dementia, and genetic neurological disorders. She holds qualifications including MB BS (Hons) and FRACP, and has contributed to clinical trials and ethical guidelines in neurology. Her research interests include HD clinical phenotypes, genetic modifiers, and biomarker disclosure ethics. Notable contributions include the 2023 Lifetime Achievement Award from the Huntington Study Group USA. Her recent work analyzes HD nonmotor symptoms, cerebellar ataxia genetics, and Alzheimer’s biomarkers. Education: MB BS (Hons), MBioeth, FRACP Awards: Lifetime Achievement Award (2023) Key Themes: Neurodegenerative diseases, clinical trials, genetic analysis, ethical considerations Publications span HD diagnostic criteria, late-onset cases, and coenzyme Q10 trials. Her research emphasizes interdisciplinary care and improving quality of life for neurodegenerative disease patients.

Beata Jastrzebskaمشاهده پروفایل

دانشیار

• Pharmacology
• Neuroscience
• Ophthalmology
• +۳ مورد دیگر

Beata Jastrzebska is an Associate Professor in the Department of Pharmacology at Case Western Reserve University's School of Medicine. She holds membership in the Cleveland Center for Membrane & Structural Biology and has been an NIH-funded independent investigator since 2016. Her research focuses on retinal degenerative diseases, particularly understanding rhodopsin signaling and developing pharmacological treatments for conditions like retinitis pigmentosa. She also contributes to medical education, receiving the 2021 Edmond S. Ricanati IQ Facilitator Award for her teaching excellence. Dr. Jastrzebska earned her MSc in Biology from Warsaw University (1994) and a PhD in Biochemistry from the Nencki Institute of Experimental Biology (2003). Her postdoctoral training at the University of Washington and Case Western Reserve University advanced her expertise in GPCR signaling and structural biology. Her laboratory investigates rhodopsin oligomerization, light-induced retinal damage, and therapeutic strategies using small molecules and flavonoids. Key research areas include: rhodopsin dimerization/oligomerization, mechanisms of retinal degeneration, and preclinical models of inherited retinal diseases. Her work bridges basic science and translational medicine, aiming to identify novel drug targets and chaperone therapies. Awards: Edmond S. Ricanati, M.D. IQ Facilitator Award (2021) Advising & Grants: NIH-funded research on retinal degeneration mechanisms and pharmacological interventions. Active mentorship of graduate and medical students in pharmacology and ophthalmology research. Her lab is equipped to study retinal physiology, protein dynamics, and small molecule interactions in cellular and animal models.

• Dermatology
• Genodermatoses
• Inherited Skin Disorders
• +۳ مورد دیگر

Dr. Xingyuan Jiang is a Postdoctoral Associate in the Department of Dermatology at Yale School of Medicine, working in Dr. Keith Choate's laboratory. Her research focuses on genodermatoses, with particular emphasis on uncovering the molecular mechanisms underlying congenital and mosaic skin disorders. Dr. Jiang received her medical education at Peking University, where she earned her MBBS degree in 2020 followed by her MD in Dermatology in 2023. During her training at Peking University, she completed dermatology residency and conducted research on inherited skin disorders, identifying novel pathogenic variants involved in keratinization and pigmentation diseases. Her research interests center on genetic skin disorders, with particular focus on keratinization and pigmentation diseases. Dr. Jiang employs molecular and translational approaches to explore targeted therapeutic strategies for rare syndromic and mosaic skin conditions. She utilizes advanced genetic and genomic techniques to identify novel pathogenic variants and understand their functional consequences in skin biology. Dr. Jiang's publication record demonstrates a consistent focus on palmoplantar keratodermas, epidermal nevi, and other genetic skin conditions. Her research has identified novel genetic variants associated with these conditions and explored potential therapeutic interventions, including JAK inhibitors for inflammatory skin disorders. She frequently collaborates with researchers including Keith Choate, Ryland Mortlock, Christine Ko, Christopher Bunick, and Ivan Lomakin. Dr. Jiang is actively contributing to the field of dermatogenetics through her research in Dr. Choate's laboratory at Yale. Her work bridges basic science and clinical applications, with the goal of developing personalized treatments for patients with rare genetic skin disorders.

• Genetics
• Functional Genomics
• Neurodevelopmental Disorders
• +۱۲ مورد دیگر

Kristina Lanko is an Assistant Professor in the Department of Clinical Genetics at Erasmus MC, Faculty of Medicine. Her research is centered on understanding the genetic and molecular basis of neurodevelopmental and neurodegenerative disorders, with a strong focus on functional genomics and gene regulation. Her research interests span Genetics , Neuronal Differentiation , Regulatory Elements , Non-coding DNA , and Neurodevelopmental Disorders . She employs in vitro models, zebrafish, and patient-derived cells to study disease mechanisms and identify potential therapeutic strategies. Her work integrates molecular biology, epigenetics, and computational approaches to interpret disease-relevant genetic variants. The most recent articles highlight a consistent focus on neurogenetics and translational genomics . Themes include the role of ubiquitin proteases in neurodevelopment (e.g., USP7), modeling hereditary spastic paraplegia, interpreting non-coding variants using AI, and identifying biomarkers for spinal muscular atrophy. These studies demonstrate a translational trajectory from basic molecular mechanisms to clinical applications. No scientific awards were mentioned in the provided text. Kristina Lanko actively collaborates with leading researchers in the field, including Dr. Tamer Barakat, and contributes to significant discoveries in rare genetic diseases. While specific grants or advising roles are not detailed, her position as an assistant professor and co-authorship on multiple high-impact papers suggest active mentorship and research leadership. Her work is published in top-tier journals such as Genes & Development , Acta Neuropathologica , and Journal of Neuroinflammation . She is involved in building functional genomics resources and preclinical models, indicating leadership in a research team or lab focused on precision medicine for neurological disorders.

• Genetics
• Brain Development
• Regulatory Elements
• +۶ مورد دیگر

Eva Medico Salsench is a Researcher in the Clinical Genetics department at Erasmus MC, focusing on the molecular mechanisms of genetic brain disorders. Her work bridges fundamental genetic research with clinical applications, particularly in understanding regulatory elements and enhancer regions in neurodevelopment. Her research interests center on the non-coding genome's role in brain disorders, with specific expertise in enhancer regions, regulatory elements, and zebra fish models for studying neurological conditions. She investigates how mutations in genes like AMFR and YIF1B lead to disorders such as hereditary spastic paraplegia and other neurodevelopmental conditions, with recent work exploring potential statin treatments for genetic neurological disorders. Her publications from 2021-2023 demonstrate a strong focus on integrating multi-omics approaches to understand brain development and genetic disorders. The research spans from basic mechanisms of gene regulation to clinical applications, with particular attention to autosomal recessive inheritance patterns and potential therapeutic interventions. Dr. Medico Salsench collaborates extensively with international research teams across Europe and beyond, as evidenced by her multi-author publications with researchers from various institutions worldwide. Her work has gained attention in academic circles with significant citation counts and social media engagement.

• Genetics
• Developmental Biology
• Neuroscience
• +۳ مورد دیگر

Herma van der Linde is a researcher at Erasmus University Medical Center's Department of Clinical Genetics, leveraging zebrafish models to investigate genetic mechanisms of human diseases with emphasis on neurological, cardiac, and gastrointestinal disorders. Her research integrates multiple disciplines through: Neurogenetics of motor neuron diseases and leukodystrophy Molecular pathways in cardiomyocyte adhesion and heart development Intestinal morphogenesis and motility disorders Therapeutic translation including statin repurposing Cellular mechanisms of filamin isoforms and cytoskeletal regulation Recent publications demonstrate consistent focus on zebrafish-based discovery of disease-causing variants (e.g., AMFR, CSF1R, FLII), with strong translational emphasis on identifying druggable pathways. Her work bridges basic developmental biology with clinical applications across neurology, cardiology, and gastroenterology. Collaborative networks span international institutions as evidenced by multi-author publications, reflecting integrated approaches to complex genetic disorders through the Clinical Genetics department's research infrastructure.

• Genetics
• Clinical Genetics
• Molecular Genetics
• +۷ مورد دیگر

Ingrid van de Laar is a researcher in the Department of Clinical Genetics at Erasmus MC, a leading academic medical center in the Netherlands. Her work is centered on the genetic basis of hereditary connective tissue disorders, particularly vascular Ehlers-Danlos syndrome and Loeys-Dietz syndrome. She actively contributes to research on genotype-phenotype correlations, functional genomics using fibroblast models, and clinical natural history studies. Her research interests include clinical genetics , molecular genetics , vascular diseases , genotype-phenotype correlation , and hereditary connective tissue disorders . She employs fibroblast-based transcriptome and functional analyses to uncover pathogenic mechanisms in genetic conditions, especially where standard DNA testing fails to yield diagnoses. The recent articles highlight a strong focus on rare genetic syndromes, including SMAD3-related disorders, NF1 variants, and biallelic mutations in genes like PIGB, EFTUD2, and NANS. Her work spans clinical cohort studies, functional validation, and expanding the phenotypic spectrum of known genetic disorders. Many publications involve multidisciplinary collaboration across Dutch and international centers. She has contributed to high-impact journals such as Circulation: Genomic and Precision Medicine , Journal of Medical Genetics , and Human Molecular Genetics . Her research has been cited in peer-reviewed literature and referenced on platforms including Wikipedia, Mendeley, and X (formerly Twitter), indicating scholarly engagement and visibility. Ingrid van de Laar supervises research, as indicated by the 'Supervised Work (1)' on her profile. She is involved in doctoral training and likely mentors students in clinical and molecular genetics. Her work is supported by collaborative networks across Erasmus MC and national consortia. She is part of research teams studying vascular aging, connective tissue disorders, and rare genetic diseases. Her lab or research group likely operates within the Clinical Genetics department at Erasmus MC, collaborating closely with molecular biologists, clinicians, and bioinformaticians to advance diagnosis and understanding of genetic syndromes.

• Genetics
• Molecular Biology
• Biochemistry
• +۵ مورد دیگر

Ed Jacobs is a Researcher in the Department of Clinical Genetics at Erasmus University Rotterdam's Erasmus School of Medicine. His research program focuses on rare genetic disorders, with particular emphasis on lysosomal storage diseases and neurogenetic conditions. He maintains active collaborations with international research teams investigating exome sequencing applications, enzyme function analysis, and preclinical therapeutic models. Dr. Jacobs' research spans several critical areas in medical genetics, with primary focus on lysosomal storage disorders (particularly Mucolipidosis), autosomal recessive inheritance patterns , enzyme activity anomalies , and the diagnostic application of exome sequencing . His work with zebrafish models has yielded important insights into potential statin-based therapeutic approaches for certain neurodegenerative conditions. The fingerprint analysis of his research shows strong specialization in biochemistry, genetics, and molecular biology with particular emphasis on mucolipidosis (75%), fibroblast research (70%), and exome sequencing (62%). Analysis of Dr. Jacobs' publication record reveals a consistent translational research approach that bridges molecular mechanisms with clinical applications. His work demonstrates how advanced genomic techniques can identify disease mechanisms while simultaneously suggesting potential treatment pathways, as evidenced by his research connecting AMFR dysfunction with statin-responsive spastic paraplegia. The recurring theme across his publications is the systematic investigation of rare genetic disorders through integrated genomic, biochemical, and clinical analysis. Dr. Jacobs participates in substantial international collaborative projects focused on rare genetic diseases, as demonstrated by the multi-institutional authorship on his publications. His research has received attention across multiple platforms with significant Mendeley readership and social media engagement, particularly for his work on statin treatment for spastic paraplegia which was mentioned by 31 X users and read by 24 Mendeley users. While specific grant information isn't detailed in the available materials, his productive research output suggests active funding support for his investigations into lysosomal storage disorders and related conditions.

• Molecular Genetics
• Nephrology
• Amino Acid Transporters
• +۳ مورد دیگر

Dr. Noel Edwards is a Researcher at Newcastle University, specializing in molecular genetics, nephrology, and mitochondrial disorders. His work focuses on identifying genetic mutations underlying kidney diseases, ciliopathies, and cancer resistance mechanisms, with extensive collaborations including Professor John Sayer and Professor David Thwaites. Research Interests: Edwards investigates genetic drivers of renal anomalies (e.g., polycystic kidney disease, cystinuria), amino acid transporter dysfunction, and mitochondrial disorders. His cancer research explores autophagy-mediated resistance in melanoma and kinase inhibitor development. Key areas include genotype-phenotype correlations, therapeutic target discovery, and clinical translation of molecular findings. Publication Trends: Recent articles (2015–2022) demonstrate a consistent focus on genetic basis of kidney and urinary tract disorders, expanding into mitochondrial diseases and cancer therapeutics. Studies emphasize mutation analysis, functional validation, and clinical case correlations, utilizing techniques from gene panels to pharmacological optimization. Awards: None reported. Collaborations & Teams: Edwards frequently collaborates with nephrology and genetics researchers at Newcastle University, contributing to multidisciplinary projects on inherited disorders and drug discovery.

Robin D. Clarkمشاهده پروفایل

استاد

• Medical Genetics
• Pediatric Genetics
• Rare Diseases
• +۲ مورد دیگر

Robin D. Clark, MD is a Professor in the School of Medicine with dual appointments in the Pathology Division (Department of Pathology and Human Anatomy) and Pediatric Genetics Division (Department of Pediatrics). He earned his AB from Smith College in 1975 and MD from the University of Arizona in 1978. His research focuses on medical genetics and rare disease diagnostics, with specialization in: Neonatal genetic disorders and dysmorphology Whole exome sequencing applications in clinical care Genotype-phenotype correlations in developmental syndromes Teratogenic effects of prenatal exposures Recent publications (2018-2025) demonstrate strong emphasis on: Rapid genomic diagnostics implementation in neonatal intensive care Novel gene-disease associations (e.g., FLVCR1, PLS3, RHOBTB2) Clinical characterizations of rare syndromes Prenatal and perinatal genetic counseling applications

Krzysztof Palczewskiمشاهده پروفایل

استاد

• Genome Editing
• Vision Science
• Retinal Diseases
• +۵ مورد دیگر

Krzysztof Palczewski is a Donald Bren Professor and Distinguished Professor at the University of California, Irvine (UCI), School of Medicine, with joint appointments in Pharmacology, Ophthalmology, and Chemical Biology. His research focuses on the molecular mechanisms of vision, retinal diseases, and structural biology of G protein-coupled receptors (GPCRs). Education: Ph.D., Biochemistry, Technical University of Wrocław, Poland (1986) M.S., Chemistry, University of Wrocław, Poland Research Interests: His laboratory investigates photoreceptor function, visual signaling pathways, and retinal disease mechanisms. Key areas include: Genome editing for inherited retinal disorders Structure-function relationships of rhodopsin and GPCRs Chromophore recycling (visual cycle) Development of small molecule therapies for age-related macular degeneration Grants & Awards: NIH R01 grants (EY030873, EY09339, EY030912) Member of National Academy of Sciences (2022) and National Academy of Medicine (2019) Paul Kayser International Award for Retina Research (2018) Professional Roles: Director of the UCI Center for Translational Vision Research. Previously held leadership roles at Case Western Reserve University (Chair of Pharmacology) and the University of Washington (Professorships in Ophthalmology and Pharmacology). Labs & Collaborations: Leads a multidisciplinary team integrating structural biology, genetics, and pharmacology. Collaborates with the Infrared Neuroimaging (INP) and Chemical Biology programs at UCI.

• Nephrology
• Autosomal Dominant Polycystic Kidney Disease (ADPKD)
• Genetic Kidney Disorders
• +۳ مورد دیگر

Terry Watnick is the Joan B. and John H. Sadler, MD Professor of Nephrology at the University of Maryland School of Medicine. She holds her primary appointment in the Department of Medicine and directs an inherited renal disease clinic, serving as site principal investigator for ADPKD clinical trials. Her research focuses on the molecular mechanisms of cystic kidney diseases, particularly ADPKD, and its vascular complications. Brown University (Magna Cum Laude), Sc.B. (1981) Yale University School of Medicine, M.D. (1987) Internship and Residency in Internal Medicine at Yale-New Haven Hospital (1988-1990) Fellowship in Nephrology at Johns Hopkins Hospital (1995) Dr. Watnick's research investigates the vascular and lymphatic phenotypes linked to PKD1/2 mutations using mouse models and cell-based systems. Her lab explores genotype-phenotype correlations in ADPKD patients with aneurysms and employs Drosophila melanogaster to study ciliary trafficking of Polycystin-2. These studies have implications for understanding disease progression and developing targeted therapies. The articles she co-authored highlight advancements in ADPKD diagnostics, vascular pathology, and molecular signaling. Her work integrates genetic, developmental, and translational approaches, emphasizing the role of TGF-beta and ciliary pathways in disease mechanisms. NIH/NIDDK-funded Maryland PKD Research and Translation Core Center Principal Investigator Co-PI of the national PKD RTCC coordinating site Norman S. Coplon Grant Award, Lillian Jean Kaplan International Prize Andreoli Lectureship (2023) Dr. Watnick has secured grants such as the NIH Physician Scientist Award and National Research Service Award. She leads the Baltimore PKD Research and Clinical Core Center, supporting international researchers through specialized cores for antibody validation, mouse models, cell culture, and clinical trials. Her clinical work involves multicenter ADPKD studies.

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

Diana Valverde Perez serves as a full-time University Teacher at the University of Vigo, where she is affiliated with the Faculty of Biology and the Department of Biochemistry, Genetics and Immunology. She maintains dual institutional roles within the Biomedical Research Center and the XB5 Genomics and Biomedicine research group at the Vigo campus. Her academic foundation includes a 1997 PhD from the University of A Coruña, where her doctoral research under Dr. Monserrat Baiget Bastús investigated molecular mechanisms in Autosomal Recessive Pigmentary Retinosis, establishing early expertise in genetic disease pathways. Her research integrates Genomics and Biomedicine with specialized focus on Molecular Biology and Genetics, particularly examining biochemical and immunological aspects of inherited disorders. Current work through the XB5 research group emphasizes genomic approaches to disease mechanisms, with ongoing relevance to ophthalmological and systemic genetic conditions.

• Pediatrics
• Nephrology
• Liver Fibrosis
• +۵ مورد دیگر

Per Wittenhagen is a Clinical Associate Professor at the University of Southern Denmark, affiliated with the Department of Pediatrics and the Research Unit for Pediatrics (Odense). His research focuses on pediatric nephrology, immunosuppression, and liver fibrosis diagnostics. He is active in interdisciplinary studies linking nephrology to inflammatory bowel disease and biomarker development. Key Collaborations: Karolinska Institute (KI), Odense University Hospital (OUH) Research Trends: Recent publications highlight pediatric kidney transplantation outcomes, liver fibrosis diagnostics using the Enhanced Liver Fibrosis Score, and epidemiological studies in nephrology. His work emphasizes immunosuppressive drug effects, biomarker validation, and cross-sectional analyses of kidney complications in IBD patients. Email: pwittenhagen@health.sdu.dk

• Neurology
• Medical Genetics
• Neuromuscular Disorders
• +۵ مورد دیگر

Professor Ivailo Tournev, MD, DSc, is a prominent neurologist and medical geneticist at New Bulgarian University's Department of Cognitive Science and Psychology, where he served as Department Head (2013-2016) and currently serves on the Board of Trustees. Concurrently, he leads the Clinic for Nervous Diseases at University Hospital 'Alexandrovska' in Sofia. His career spans over three decades with appointments at Medical University-Sofia and extensive international collaborations. Dr. Tournev's research focuses on neuromuscular disorders in Roma populations , where he has identified multiple novel genetic diseases including CCFDN syndrome and various forms of Charcot-Marie-Tooth disease. His work bridges clinical neurology, medical genetics, and epidemiology, with particular emphasis on founder effects in isolated populations. Recent publications demonstrate his leadership in next-generation sequencing applications for rare diseases and genotype-phenotype correlations in Wilson disease and epilepsy. His scientific contributions include over 80 publications in high-impact journals such as Nature Genetics, Brain, and American Journal of Human Genetics, with research trends showing increasing focus on molecular diagnostics and translational applications. He has received numerous awards including the Merrill Spencer Award and Bulgaria's highest medical honor, the Pitagor Award. Merrill Spencer Award (European Society for Neurosonology) Pitagor Award (Ministry of Education) National Medical Award for Overall Contribution to Medicine Golden Coin Pismenost (European Scientific Council) Multiple first-place poster awards at National Neurology Congresses As scientific supervisor, he has mentored over 20 doctoral students specializing in neuromuscular disorders, epilepsy, and medical genetics. His leadership extends to major European projects including TREAT-NMD and CARE-NMD networks. Dr. Tournev directs the Expert Center for Genetic Neurological and Metabolic Diseases and has secured continuous research funding from national and international sources including the European Commission, AFM, and Wellcome Trust.