Cross-border rare disease advocacy: Preethi Krishnaraj interviews Harsha Rajasimha.

Autor: Krishnaraj P; Max Planck Institute for Heart and Lung Research, Department of Developmental Genetics, 61231 Bad Nauheim, Germany., Rajasimha HK; Indo US Organization for Rare Diseases (IndoUSrare), Herndon, VA, USA.; Jeeva Clinical Trials, Inc., Manassas, VA, USA.; Affiliate Faculty, School of Systems Biology, George Mason University, Fairfax, VA, USA.

Publikováno v: Disease models & mechanisms [Dis Model Mech] 2024 Jun 01; Vol. 17 (6). Date of Electronic Publication: 2024 Jan 25.

Recent Advances in Systems and Network Medicine: Meeting Report from the First International Conference in Systems and Network Medicine.

Autor: Kurnat-Thoma E; National Institutes of Health, National Institute of Nursing Research (NIH/NINR), Bethesda, Maryland.; Genetics and Genomics, Georgetown University School of Nursing and Health Studies, Washington, District of Columbia., Baranova A; The Chronic Metabolic and Rare Diseases Systems Biology Initiative (ChroMe RaDSBIn), School of Systems Biology, George Mason University, Fairfax, Virginia., Baird P; Global Software Standards, Philips, Pleasant Prairie, Wisconsin., Brodsky E; Pine Biotech, New Orleans, Louisiana., Butte AJ; Bakar Computational Health Sciences Institute, University of California San Francisco (UCSF), San Fransisco, California., Cheema AK; Department of Biochemistry, Molecular and Cellular Biology, Georgetown University Medical Center, Washington, District of Columbia., Cheng F; Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland Clinic, Cleveland, Ohio., Dutta S; Research Collaboratory for Structural Bioinformatics Protein Data Bank (RCSB PDB) and Institute for Quantitative Biomedicine, Rutgers University, The State University of New Jersey, Piscataway, New Jersey., Grant C; Rare Disease Institute, Division of Genetics and Metabolism, Children's National Medical Center, Washington, District of Columbia., Giordano J; Department of Neurology, Neuroethics Studies Program-Pellegrino Center for Clinical Bioethics, and O'Neill-Pellegrino Program in Brain Sciences and Global Law and Policy, Georgetown University Medical Center, Washington, District of Columbia.; Department of Biochemistry, Neuroethics Studies Program-Pellegrino Center for Clinical Bioethics, and O'Neill-Pellegrino Program in Brain Sciences and Global Law and Policy, Georgetown University Medical Center, Washington, District of Columbia., Maitland-van der Zee AH; Department of Respiratory Medicine, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Fridsma DB; American Medical Informatics Association, Washington, District of Columbia., Jarrin R; Department of Biochemistry, Molecular and Cellular Biology, Georgetown University Medical Center, Washington, District of Columbia., Kann MG; Department of Biological Sciences, University of Maryland Baltimore County, Baltimore, Maryland., Keeney J; Department of Biochemistry and Molecular Medicine, George Washington University, Washington, District of Columbia., Loscalzo J; Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Madhavan G; National Academy of Engineering, The National Academies of Sciences, Engineering, and Medicine, Washington, District of Columbia., Maron BA; Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., McBride DK; Center for Advanced Healthcare Learning and Simulation (CAHLS), Washington, District of Columbia., McKean M; Georgetown University Global Health Initiative, Georgetown University Medical Center, Washington, District of Columbia., Mun SK; Arlington Innovation Center, Health Research, Virginia Tech, Arlington, Virginia., Palmer JC; Caldwell Palmer, Denver, Colorado., Patel B; Center for Devices and Radiological Health, Food and Drug Administration, White Oak, Maryland., Parakh K; Yale School of Medicine, New Haven, Connecticut., Pariser AR; National Institutes of Health, National Center for Advancing Translational Sciences (NIH/NCATS), Bethesda, Maryland., Pristipino C; Interventional Cardiology Unit, San Filippo Neri ASL Roma 1 Hospital, Rome, Italy.; Italian Association for Systems Medicine and Healthcare (ASSIMSS), Rome, Italy., Radstake TRDJ; Department of Rheumatology, Clinical Immunology and Center of Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands., Rajasimha HK; The Chronic Metabolic and Rare Diseases Systems Biology Initiative (ChroMe RaDSBIn), School of Systems Biology, George Mason University, Fairfax, Virginia.; Jeeva Informatics Solutions, Inc., Reston, Virginia., Rouse WB; McCourt School of Public Policy, Georgetown University, Washington, District of Columbia., Rozman D; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Saleh A; Scipher Medicine, Boston, Massachusetts., Schmidt HHHW; Department of Pharmacology & Personalized Medicine, Faculty of Health, Medicine & Life Sciences, Maastricht University, Maastricht, The Netherlands., Schultz N; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York., Sethi T; Department of Computational Biology, Indraprastha Institute of Information Technology Delhi (IIIT), Delhi, India., Silverman EK; Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Skopac J; MITRE Corporation, McLean, Virginia., Svab I; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Trujillo S; Life Sciences/Digital Medicine, American Medical Association, Washington, District of Columbia., Valentine JE; Hyman, Phelps & McNamara PC, Washington, District of Columbia.; University of Maryland Carey School of Law, Baltimore Maryland., Verma D; Systems Engineering Research Center (SERC), Stevens Institute of Technology, New Jersey., West BJ; Army Research Laboratory, Army Research Office, Durham, North Carolina., Vasudevan S; Department of Biochemistry, Molecular and Cellular Biology, Georgetown University Medical Center, Washington, District of Columbia.

Publikováno v: Systems medicine (New Rochelle, N.Y.) [Syst Med (New Rochelle)] 2020 Feb 26; Vol. 3 (1), pp. 22-35. Date of Electronic Publication: 2020 Feb 26 (Print Publication: 2020).

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

Autor: Ratnapriya R; Neurobiology Neurodegeneration and Repair Laboratory., Zhan X; Center for Statistical Genetics, Department of Biostatistics and., Fariss RN; Biological Imaging Core., Branham KE; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48109, USA., Zipprer D; Neurobiology Neurodegeneration and Repair Laboratory., Chakarova CF; Department of Genetics, UCL-Institute of Ophthalmology, Bath Street, London EC1V 9EL, UK., Sergeev YV; Ophthalmic Genetics and Visual Function Branch., Campos MM; Biological Imaging Core., Othman M; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48109, USA., Friedman JS; Neurobiology Neurodegeneration and Repair Laboratory., Maminishkis A; Section of Epithelial and Retinal Physiology and Disease., Waseem NH; Department of Genetics, UCL-Institute of Ophthalmology, Bath Street, London EC1V 9EL, UK., Brooks M; Neurobiology Neurodegeneration and Repair Laboratory., Rajasimha HK; Neurobiology Neurodegeneration and Repair Laboratory., Edwards AO; Institute for Molecular Biology, University of Oregon and Oregon Retina, Eugene, OR 97401, USA., Lotery A; Faculty of Medicine, Clinical and Experimental Sciences, University of Southampton, Southampton SO16 6YD, UK., Klein BE; Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and, Public Health, Madison, WI 53726, USA., Truitt BJ; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA., Li B; Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA., Schaumberg DA; Division of Preventive Medicine, Brigham and Women's Hospital, Boston, MA 02215, USA, Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA., Morgan DJ; Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA., Morrison MA; Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA., Souied E; Hôpital Intercommunal de Créteil, Hôpital Henri Mondor - Université Paris Est Créteil 94000, France., Tsironi EE; Department of Ophthalmology, University of Thessaly School of Medicine, Larissa, Greece., Grassmann F; Institute of Human Genetics, University of Regensburg, Regensburg 93053, Germany., Fishman GA; Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL 60607, USA., Silvestri G; Centre for Vision and Vascular Science, Queen's University, Belfast, UK., Scholl HP; Wilmer Eye Institute, Johns Hopkins University, 600 N. Wolfe Street, Baltimore, MD 21287, USA., Kim IK; Retina Service and Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA., Ramke J; The Fred Hollows Foundation, Auckland, New Zealand, School of Social Sciences, University of New South Wales, Sydney, Australia., Tuo J; Section of Immunopathology and., Merriam JE; Department of Ophthalmology and., Merriam JC; Department of Ophthalmology and., Park KH; Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul 463-707, Republic of Korea., Olson LM; Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA., Farrer LA; Departments of Medicine (Section of Biomedical Genetics), Ophthalmology and Biostatistics, Neurology, Epidemiology, Boston University Schools of Medicine and Public Health, Boston, MA 02215, USA., Johnson MP; Texas Biomedical Research Institute, San Antonio, TX 78245, USA., Peachey NS; Cleveland Clinic Foundation, Cole Eye Institute, Cleveland, OH 44195, USA, Louis Stokes Cleveland VA Medical Center, Cleveland, OH 44195, USA., Lathrop M; Department of Genetics, Institut de la Vision - Inserm Université Pierre et Marie Curie UMR-S 968, Paris, France., Baron RV; Department of Human Genetics and., Igo RP Jr; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA., Klein R; Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and, Public Health, Madison, WI 53726, USA., Hagstrom SA; Cleveland Clinic Foundation, Cole Eye Institute, Cleveland, OH 44195, USA., Kamatani Y; Department of Genetics, Institut de la Vision - Inserm Université Pierre et Marie Curie UMR-S 968, Paris, France., Martin TM; Oregon Health & Science University, Portland, OR 97239, USA., Jiang Y; Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA., Conley Y; Health Promotion and Development, School of Nursing, 440 Victoria Building, 3500 Victoria St, Pittsburgh, PA 15261, USA., Sahel JA; Department of Genetics, Institut de la Vision - Inserm Université Pierre et Marie Curie UMR-S 968, Paris, France., Zack DJ; Wilmer Eye Institute, Johns Hopkins University, 600 N. Wolfe Street, Baltimore, MD 21287, USA., Chan CC; Section of Immunopathology and., Pericak-Vance MA; Bascom Palmer Eye Institute and Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33125, USA., Jacobson SG; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA., Gorin MB; Department of Ophthalmology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA., Klein ML; Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science, University, Portland, OR 97201, USA., Allikmets R; Department of Ophthalmology and Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA., Iyengar SK; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA., Weber BH; Institute of Human Genetics, University of Regensburg, Regensburg 93053, Germany., Haines JL; Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA., Léveillard T; Department of Genetics, Institut de la Vision - Inserm Université Pierre et Marie Curie UMR-S 968, Paris, France., Deangelis MM; Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA., Stambolian D; Department of Ophthalmology, and Department of Genetics, University of Pennsylvania, Philadelphia, PA 9104, USA., Weeks DE; Department of Human Genetics and Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA., Bhattacharya SS; Department of Genetics, UCL-Institute of Ophthalmology, Bath Street, London EC1V 9EL, UK., Chew EY; Clinical Trials Branch, Division of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Heckenlively JR; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48109, USA., Abecasis GR; Center for Statistical Genetics, Department of Biostatistics and., Swaroop A; Neurobiology Neurodegeneration and Repair Laboratory, swaroopa@nei.nih.gov.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2014 Nov 01; Vol. 23 (21), pp. 5827-37. Date of Electronic Publication: 2014 Jun 04.

Developing rods transplanted into the degenerating retina of Crx-knockout mice exhibit neural activity similar to native photoreceptors.

Autor: Homma K; Laboratory for Retinal Regeneration, Center for Developmental Biology, RIKEN, Kobe, Japan. kohei.homma@nih.gov, Okamoto S, Mandai M, Gotoh N, Rajasimha HK, Chang YS, Chen S, Li W, Cogliati T, Swaroop A, Takahashi M

Publikováno v: Stem cells (Dayton, Ohio) [Stem Cells] 2013 Jun; Vol. 31 (6), pp. 1149-59.

Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.

Autor: Priya RR; Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD, USA., Rajasimha HK, Brooks MJ, Swaroop A

Publikováno v: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2012; Vol. 884, pp. 335-51.