جست‌وجوی استاد و پژوهشگر

• Genetic Dermatology
• Medical Genetics
• Skin Biology
• +۳ مورد دیگر

Jian Xing is a Postdoctoral Associate in the Department of Pathology at the Yale School of Medicine. Their research focuses on genetic and molecular mechanisms underlying skin disorders, particularly those caused by genetic variants. They are affiliated with the Kleinstein Lab, contributing to studies on inherited skin conditions and their pharmacological treatments. Educational background includes a PhD in Neuroscience/Biomedical Science from the University of Connecticut (2023) and a MS in Biomedical Engineering (2018). Research interests include analyzing genetic mutations linked to disorders like epidermolysis bullosa, ichthyosis, and keratoderma, as well as investigating treatments using drugs like baricitinib and upadacitinib. Recent work explores molecular pathways such as PI3K/AKT/mTOR and TRPM4-associated conditions. Publications highlight contributions to understanding skin hyperpigmentation, vascular malformations, and genetic syndromes. No scientific awards are listed. Advising and grants: No formal students listed, but actively involved in collaborative lab-based research. Lab affiliations include the Kleinstein Lab.

• Genetics
• Paediatrics
• Child Health
• +۷ مورد دیگر

Dr. Janine Smith is a Lecturer in the Paediatrics & Child Health department at the University of Sydney , affiliated with the Children's Hospital, Westmead . Her research focuses on genetic diseases , musculoskeletal diseases , and reproductive, maternal, and child health . She has contributed extensively to studies in mitochondrial disorders , congenital heart disease , and genomic medicine . Key themes in her work include Healthy Ageing , Lifespan , and clinical genetics . Her publications span high-impact journals such as New England Journal of Medicine and Nature Genetics , emphasizing genotype-phenotype correlations , epigenetic biomarkers , and genetic diagnostics . Recent articles highlight advances in long-read sequencing and whole-genome analysis for complex conditions like intellectual disability and retinal dystrophies . Contact: janine.smith@sydney.edu.au

• Neurogenetics
• Leukodystrophy
• Microglia
• +۸ مورد دیگر

Leslie Sanderson is an Assistant Professor in the Department of Clinical Genetics at Erasmus MC, where she conducts research on rare genetic neurological disorders. Her work integrates molecular genetics, zebrafish models, and cellular biology to understand disease mechanisms and identify potential therapies. Her research focuses on neurogenetic conditions, particularly leukodystrophies, microglial dysfunction, lysosomal storage disorders such as mucopolysaccharidosis, and hereditary spastic paraplegias. She investigates the role of genes involved in membrane trafficking (e.g., VPS16, VPS41, AMFR) and microglial regulation (e.g., CSF1R) in neurodegeneration. The recent articles highlight a strong trend in identifying novel genetic causes of rare diseases and exploring repurposed drug treatments, such as statins. Her studies often involve international collaborations and utilize zebrafish and patient-derived fibroblasts to model disease and test therapeutic interventions. No scientific awards mentioned in the provided text. There is no information available about student advising, grants, or formal mentorship roles in the given text. Her collaborative publications suggest involvement in large research consortia and team-based science, but specific details on grants or leadership roles are not provided. Leslie Sanderson is part of a research team at Erasmus MC focused on clinical genetics and neurodegenerative diseases, likely working within a laboratory environment that uses zebrafish and cellular models to dissect disease mechanisms. She collaborates closely with senior researchers such as Dr. T.J. van Ham and other international experts in genetics and neurology.

• Human Genetics
• Medical Genetics
• Genomic Sequencing
• +۴ مورد دیگر

Prof. Dr. Kerstin Kutsche is a distinguished researcher at the Institute of Human Genetics within the Medical Faculty of University Medical Center Hamburg-Eppendorf. With over a decade of continuous research funding from the Deutsche Forschungsgemeinschaft (DFG), she leads multiple projects focused on identifying genetic causes of rare disorders through advanced sequencing technologies. Her work spans from basic gene discovery to functional characterization of disease mechanisms. Dr. Kutsche's primary research interests center on neurodevelopmental disorders, syndromic conditions, and molecular diagnostics. She has pioneered approaches using whole-exome sequencing (WES), whole-genome sequencing (WGS), and RNA sequencing to uncover genetic variants responsible for conditions including microphthalmia with linear skin defects (MLS) syndrome, Marfan syndrome and related aortopathies, and various neurocardiofaciocutaneous syndromes. Her research integrates genomic analysis with functional studies to elucidate disease mechanisms, particularly focusing on how genetic variants affect cellular processes like mitochondrial function, synaptic transmission, and developmental pathways. Her recent publications demonstrate a strong focus on genotype-phenotype correlations, with particular attention to how specific variant types (nonsense, missense, structural variants) manifest in clinical presentations. The research trends show increasing sophistication in integrating multi-omics approaches, especially combining WGS with RNA-seq to validate pathogenic variants and understand their functional consequences. Principal Investigator for DFG project KU 1240/13-1 (2020-2025) on genome and RNA sequencing in Mendelian disorders Lead researcher for multiple DFG-funded projects spanning from 2011 to present Active collaborator on international research consortia studying rare genetic disorders

Jamal Nasirمشاهده پروفایل

دانشیار

• Human Genetics
• Genomics
• Exome Sequencing
• +۷ مورد دیگر

Jamal Nasir is an Associate Professor in Human Genetics & Genomics at the University of Northampton , affiliated with the Science Centre for Physical Activity and Life Sciences. He is actively engaged in research and is accepting PhD students. His research spans human genetics and genomics, with a focus on identifying genetic causes of rare disorders such as deafness and muscular dystrophy, and exploring the role of host genetics in infectious diseases like COVID-19. He contributes to major international initiatives including the COVID-19 Host Genetics Initiative and the Global Alliance for Genomics and Health (GA4GH) . His recent publications highlight trends in genomic data sharing, ethical research practices, population-specific genetic variations, and the use of exome sequencing in consanguineous families. His work often involves large-scale collaborations and addresses issues of diversity and equity in genomic research. He has been featured in 36 press/media items, with research widely covered by news outlets, blogs, and social media, indicating strong public and academic engagement. Dr. Nasir advises students and participates in collaborative grants, particularly in international genomic consortia. His ORCID is 0000-0001-6378-5616 . He is involved in research networks focused on genomic data standards, ethical data use, and improving representation in human genetic studies. His work through GA4GH contributes to shaping global policies for responsible data sharing in healthcare and research.

• Mitochondrial Genetics
• Mitochondrial Diseases
• Exercise Physiology
• +۲ مورد دیگر

Dr Julie Murphy is a researcher at Newcastle University specializing in mitochondrial genetics and diseases, with a focus on DNA deletion disorders, therapeutic interventions, and exercise physiology in mitochondrial myopathies. Her work bridges basic research and clinical applications through extensive collaboration with leading experts including Emeritus Professor Doug Turnbull and Professor Robert Taylor. Her research interests center on mitochondrial DNA maintenance mechanisms, satellite cell dysfunction in muscle tissue, and the development of exercise-based therapies for mitochondrial disorders. She has pioneered investigations into endurance and resistance training protocols for patients, while contributing significantly to mitochondrial donation research for preventing inherited disease transmission. Her work integrates molecular diagnostics, histopathological analysis, and longitudinal clinical studies to address therapeutic challenges in mitochondrial medicine. Analysis of her 2010-2020 publications reveals consistent focus on mitochondrial DNA deletion quantification methods, exercise-induced adaptations in muscle fibers, and translational pathways for mitochondrial replacement therapy. Key trends include the evolution from basic deletion mechanism studies toward clinical applications of exercise interventions and policy development for mitochondrial donation, demonstrating her role in advancing both scientific understanding and clinical practice in the field.

Gina Ravenscroftمشاهده پروفایل

استاد

• Rare genetic diseases
• Neurogenetic diseases in babies and children
• Gene discovery in severe early-onset diseases
• +۱۰ مورد دیگر

Professor Gina Ravenscroft is a Rare Disease Genetics and Functional Genomics Professor at the University of Western Australia, working within the Genome Biology and Genetics Program at the Harry Perkins Institute of Medical Research. She received her PhD from UWA in 2009 and established her own research group at the Harry Perkins Institute in 2020. As an NHMRC Career Development Fellow and Honorary Patricia Verne Kailis Fellow, she leads the Rare Disease Genetics and Functional Genomics Group, which continues to work closely with the Preventive Genetics Group of Prof Nigel Laing. Professor Ravenscroft's educational background includes: PhD from the University of Western Australia (2009) Professor Ravenscroft's research focuses on rare genetic diseases, with particular emphasis on neurogenetic diseases in babies and children. She is recognized as a world leader in fetal akinesias and congenital myopathies. Her work spans gene discovery in severe early-onset diseases, neuropathies, skeletal muscle biology, transcriptomic profiling, functional genomics, and biobanking of patient-derived iPSCs. She has identified more than 10 novel human disease genes and continues to investigate the pathobiology associated with genetic defects using laboratory-based assays. Her publications demonstrate a consistent focus on neuromuscular and neurogenetic disorders, with particular attention to congenital myopathies, fetal movement disorders, and gene discovery in rare diseases. Her research combines genomic technologies with functional validation to identify disease mechanisms and potential therapeutic targets. Professor Ravenscroft has received numerous scientific awards and recognitions: Young Myologist of the Year at the 2016 International Congress of the World Muscle Society Australian Institute of Policy and Science Young Tall Poppy (2016) Associate Member of the Australian Academy of Health and Medical Sciences (2020) NHMRC Career Development Fellow NHMRC Early Career Fellowship (2011-2016) Honorary Patricia Verne Kailis Fellow Professor Ravenscroft is a committed advocate for medical research and early- and mid-career researchers. She serves as Secretary of the National Association of Research Fellows (NARF) and Chair of the Harry Perkins Institute's EMCR Committee. Her research is supported by NHMRC funding and other grants, enabling her team to pursue innovative approaches to rare disease diagnosis and treatment development. The Ravenscroft Lab is a collaborative team of medical scientists, genetic counsellors, and clinicians focused on advancing knowledge and increasing diagnosis for people living with rare diseases. The lab emphasizes collaboration, curiosity, excellence, and integrity in research, while prioritizing inclusiveness, growth, respect, and creating a positive workplace environment.

• Mental Retardation
• Genome Sequencing
• X-Inactivation
• +۵ مورد دیگر

Yuwei Shi is a Researcher at the Department of Clinical Genetics, Erasmus University Medical Center, specializing in the genetic basis of neurodevelopmental and neurological disorders through advanced genomic methodologies. Shi's research portfolio encompasses: Neurogenetics of intellectual disability and neurodevelopmental disorders High-throughput sequencing applications (Exome, Genome, RNA) X-chromosome inactivation mechanisms Autosomal recessive inheritance patterns Gene deletion events in cytogenetic contexts Hereditary spastic paraplegia pathogenesis Recent publications demonstrate integration of multi-omics approaches with functional validation, particularly in expanding phenotypic spectra of rare genetic disorders and identifying novel therapeutic targets like statin-based interventions for spastic paraplegia. The work consistently leverages international collaborations across clinical genetics networks to bridge molecular findings with patient phenotypes.

Alexandre Reymondمشاهده پروفایل

استاد

• Human Genetics
• Genome Annotation
• Genome Structure
• +۵ مورد دیگر

Alexandre Reymond is a Professor at the University of Lausanne's Center for Integrative Genomics within the Faculty of Biology and Medicine . He previously served as Director of the Center (2015-2022) and held roles at the University of Geneva Medical School and the Telethon Institute of Genetics and Medicine (TIGEM). His research focuses on genome structure, copy number variants (CNVs), and their impact on human genetics and phenotypic variation. Reymond earned his Ph.D. in Molecular Biology from the University of Lausanne in 1993, followed by postdoctoral training at Harvard Medical School. His work has advanced understanding of CNVs' effects on gene expression and their roles in neurodevelopmental disorders like those linked to the 16p11.2 locus. He has led large-scale studies on CNVs' global impact on transcriptomes and complex traits. Key research themes include: Genome Annotation: Mapping structural variations and their functional consequences. 16p11.2 Locus: Disentangling the evolutionary and clinical implications of this region in autism, obesity, and metabolic disorders. Phenotypic Variation: Linking CNVs to traits like cognitive function and disease susceptibility. Honors include leadership roles in the European Society of Human Genetics and collaborations with institutions like the Estonian Biobank. His lab investigates genetic modifiers, transcriptomic profiles, and epigenetic mechanisms underlying human disease. Funding sources include the Swiss National Science Foundation, EU Horizon 2020, and the Simons Foundation Autism Research Initiative (SFARI).

• Molecular Biology
• Genetics
• Medical Diagnostics
• +۴ مورد دیگر

Ihab Bishara Yousef Lolas is a Molecular Biologist at Aalborg University Hospital's Faculty of Medicine, Department of Molecular Diagnostics. With a PhD in Plant Molecular Biotechnology, his research spans molecular biology, genetics, and medical diagnostics with a focus on cardiovascular genetics, cancer pharmacogenomics, and genetic disorders. His work demonstrates a transition from plant molecular biology to clinical applications. Dr. Lolas's research interests center on molecular diagnostics with applications in cardiovascular genetics, particularly familial hypercholesterolemia in Faroese populations, and cancer pharmacogenomics, specifically DPD genotype analysis for chemotherapy personalization. His work also includes genetic studies of hearing loss and other genetic disorders. His research combines laboratory molecular techniques with population-based clinical studies, focusing on how genetic variations manifest in clinical phenotypes. Analysis of Dr. Lolas's publication history reveals a clear evolution from plant molecular biotechnology (reflected in his PhD work on plant transcription factors and environmental biotechnology) to medical applications, with a significant focus on cardiovascular genetics and cancer pharmacogenomics in recent years. His work frequently involves Danish and Faroese populations, suggesting strong regional collaboration and focus on population-specific genetic conditions. Dr. Lolas maintains an active research profile with publications spanning two decades, demonstrating sustained contributions to molecular diagnostics and genetic research. His recent media appearance on May 14, 2024, discussing genocide or reconciliation in Tversted, indicates engagement with broader societal issues beyond pure research.

Kristen Fishler Maloneمشاهده پروفایل

استادیار

• Genomic Medicine
• Genetic Counseling
• Rapid Genome Sequencing
• +۷ مورد دیگر

Kristen Fishler Malone, MS, CGC, is an Assistant Professor in the Department of Genetic Medicine at the University of Nebraska Medical Center's Munroe-Meyer Institute. She is a licensed and certified genetic counselor providing patient care in both inpatient intensive care units across Omaha and outpatient clinics for children with variations of sexual development. Her educational background includes a Master of Science from the University of Cincinnati (2018) and a Bachelor of Science from the University of Maryland (2014), along with certification by the American Board of Genetic Counseling and licensure in Nebraska. Fishler Malone's research focuses on the ethical implementation of rapid genomic testing in critical care, the use of technology and AI to improve access to genetics consultations, and defining the role of genetic counselors in inpatient settings. She is passionate about education, serving as Capstone Course Director and mentoring students in the UNMC Genetic Counseling Education Program. Her recent publications reveal a strong trend in health services research within genetic counseling, particularly workflow analysis, telehealth implementation, and optimizing genomic medicine delivery in neonatal and pediatric intensive care. She also contributes to clinical guideline development for trisomy conditions. Genetic Counseling Program Inspirational Mentorship Award, 2021 Munroe-Meyer Institute Researcher Standout Award Winner, 2020 Fishler Malone mentors genetic counseling students through capstone projects and clinical rotations, emphasizing research education. Her work has been supported by institutional and collaborative research efforts. She is actively involved in professional organizations including the National Society of Genetic Counselors, where she contributes to the Inpatient Special Interest Group and the Research Quality and Outcomes Committee. She leads and participates in research teams focused on critical care genomics, telehealth implementation, and genetic counseling practice outcomes, often collaborating with multidisciplinary groups across institutions.

• Human Genetics
• Skin Disorders
• Genodermatoses
• +۴ مورد دیگر

Keith Choate, M.D., Ph.D., is the Aaron B. and Marguerite Lerner Professor and Chair of Dermatology at Yale School of Medicine, with secondary appointments as Professor of Genetics and Pathology. He also serves as Associate Dean for Physician-Scientist Development and co-chief of dermatology at the Saint Raphael campus. Dr. Choate is a physician-scientist who employs human genetics to understand fundamental mechanisms of disease, particularly focusing on rare inherited and mosaic skin disorders. His research spans three main areas: identification of novel genetic causes of inherited skin disorders including ichthyosis, inflammatory disorders and alopecia; identification of novel genetic causes of mosaic skin disorders; and elucidation of mechanisms of revertant mosaicism in ichthyosis. His laboratory has identified the genetic basis of over 12 disorders and developed new therapeutic approaches informed by genetic findings. His work has led to the discovery that isotretinoin (Accutane), a commonly used acne medication, can counteract the effects of genetic mutations in certain ichthyosis disorders. Dr. Choate's publications demonstrate a strong focus on pathogenesis-guided classification of epidermal differentiation disorders, with recent work establishing new classification systems for nonsyndromic and syndromic epidermal differentiation disorders, palmoplantar disorders, and ichthyosiform dermatoses. His research increasingly addresses health equity issues, with studies on the Ichthyosis Scoring System in skin of color and quality-of-life impacts in females with ichthyosis. Interurban Clinical Club Regional Award (2018) American Dermatological Association National Award (2017) American Society for Clinical Investigation National Award (2016) American Academy of Dermatology Young Investigator Award (2011) Alpha Omega Alpha (2004) As an educator, Dr. Choate mentors undergraduate, graduate, and medical students, teaches at Yale Medical School, and trains resident physicians and fellows. He is director of research for the Yale Medicine Department of Dermatology and associate director of the Yale Medical Scientist Program. His clinical practice treats patients with various skin conditions including skin cancer, severe acne, psoriasis, and genetic skin disorders, with expertise that leads to referrals from across the country and around the world.

• Genetic Kidney Diseases
• Polycystic Kidney Disease
• Polycystic Liver Disease
• +۷ مورد دیگر

Whitney Besse, MD, is an Assistant Professor of Medicine in the Section of Nephrology at Yale School of Medicine, Department of Internal Medicine. She is a physician-scientist with a focus on genetic kidney and liver diseases, particularly polycystic disorders. She is affiliated with the Janeway Society, the Polycystic Kidney Disease Program, and the Yale Center for Genomic Health. Education: BS (Hon), Biomedical Engineering, Brown University (2003) MD, University of Connecticut School of Medicine (2009) Residency, Yale School of Medicine (2012) Clinical Fellow, Research Track, Yale School of Medicine (2015) Postdoctoral Research Fellow, Yale School of Medicine (2018) Dr. Besse's research centers on the genetics of inherited kidney diseases, with a primary focus on polycystic kidney and liver diseases. She employs exome sequencing, gene discovery, and functional studies in vitro and in animal models to uncover novel disease genes and understand molecular mechanisms, particularly those involving Polycystin-1 maturation. Her work aims to translate genetic findings into improved diagnostics and targeted therapies. Her recent publications highlight her contributions to identifying genes such as DNAJB11 , GANAB , and ALG9 as causative in atypical or isolated forms of cystic disease, advancing the understanding of disease spectra and genetic modifiers. Scientific Awards: Doris Duke Clinical Scientist Development Award Polycystic Kidney Disease Research Award Mentored Research Award Clinical Scientist Development Award Young Physician-Scientist Award Research Fellowship Award Dr. Besse has served as a reviewer for journals such as American Journal of Kidney Disease and Nature Communications , and is a member of thesis committees, including for MD/PhD student Patricia Bunda. She has been the Principal Investigator for a study on genetic determinants of polycystic livers and a Sub-Investigator in a study on aneurysms in ADPKD. Her laboratory operates at the intersection of clinical nephrology and molecular genetics, contributing significantly to the field through collaborative research and national working groups.

• Epidermolysis Bullosa
• Spinal Muscular Atrophy
• Genetics
• +۶ مورد دیگر

Henny Lemmink is a researcher actively contributing to genetics, molecular biology, and genomics, with a focus on hereditary disorders like epidermolysis bullosa and spinal muscular atrophy. Their work aligns with UN Sustainable Development Goals related to health and well-being. Key research areas include: Genetic variant interpretation in diagnostics Next-generation and long-read sequencing applications Hereditary disease screening methodologies Recent publications highlight advancements in genome diagnostics, tRNA modification analysis, and DNA variant pipelines. Their research has been cited in multiple peer-reviewed journals and featured in professional media coverage, including commentary on SMA diagnostic tools.

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.