Research output: Contribution to journal › Article › peer-review. * Systems Biology 100% * Inborn Genetic Diseases 38% ... Research output Research output per year 1989 2006 2007 2008 2009 2010 2012 2013 2014 2021 2023 * 339 Article ... Cell Death and Disease. 14, 5, p. 319 319.. Research output: Contribution to journal › Article › peer-review ... Cancer research. 83, 9, p. 1503-1516 14 p.. Research output: Contribution to journal › Article › peer-review ...
Genetic Association Studies 24% * Inborn Genetic Diseases 23% * Microcephaly 23% * Haplotypes 23% ... Dive into the research topics where Genetic Medicine is active. These topic labels come from the works of this organizations ...
Embracing Monogenic Parkinsons Disease: The MJFF Global Genetic PD Cohort. the MJFF Global Genetic Parkinsons Disease Study ... Research output: Contribution to journal › Article › peer-review. Open Access. * Inborn Genetic Diseases 100% ... Peereman, J., Bae, S. & Lin, T. C., 2022 Oct 1, In: Environmental Research Communications. 4, 10, 101002.. Research output: ... Using ΔK280 TauRD Folding Reporter Cells to Screen TRKB Agonists as Alzheimers Disease Treatment Strategy. Weng, Z. K., Lin, T ...
Inborn Genetic Diseases 90% * Parkinson Disease 81% * Phosphotransferases 75% * Latin America 57% ... Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinsons disease (LARGE-PD ... Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinsons disease (LARGE-PD ... PLoS Neglected Tropical Diseases. 9, 7, p. 1-26 26 p., A019.. Research output: Contribution to journal › Article › peer-review ...
Genetic Recombination 70% * DNA Damage 31% * Inborn Genetic Diseases 16% 29 Scopus citations ... ERIC, the European Research Initiative on CLL, Mar 11 2021, In: Blood. 137, 10, p. 1365-1376 12 p.. Research output: ... Research output Research output per year 1981 2002 2005 2007 2008 2009 2010 2013 2014 2022 * 182 Article ... Journal of Proteome Research. 14, 4, p. 1957-1967 11 p.. Research output: Contribution to journal › Article › peer-review ...
In utero gene editing for monogenic lung disease. Alapati, D., Zacharias, W. J., Hartman, H. A., Rossidis, A. C., Stratigis, J ... Nucleic Acids Research. 46, 16, p. 8275-8298 24 p.. Research output: Contribution to journal › Article › peer-review ... Research output Research output per year 2015 2018 2022 2023 2023 * 358 Citations ... In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease. Bose, S. K., White, B. M., ...
Dive into the research topics of Structural basis of the filamin A actin-binding domain interaction with F-actin. Together ... Inborn Genetic Diseases 6% * Cell Movement 6% * Proteins 5% Powered by Pure, Scopus & Elsevier Fingerprint Engine™ © 2023 ...
Inborn Genetic Diseases 93% * Type 2 Diabetes Mellitus 75% * Obesity 70% 6 Scopus citations ... Norambuena, G. A., Khoury, M. & Jorgensen, C., Apr 2012, In: Pediatric Research. 71, 4 Pt 2, p. 452-458 7 p.. Research output: ... Carrion, F. A. & Figueroa, F. E., 2011, In: Stem Cell Research and Therapy. 2, 3, 23.. Research output: Contribution to journal ... Research output Research output per year 1989 2015 2017 2018 2019 2020 2021 2022 2023 2023 * 53099 Citations ...
Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review. * Inborn Genetic Diseases 100% ... Rosenbergs Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 2. Elsevier, p. 185-200 16 p.. Research ... Neurodegenerative Disease Research and Commonalities with Metabolic Diseases. Söderbom, G., Esterline, R., Oscarsson, J. & ... Advances in Alzheimers Disease; vol. 7).. Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer- ...
Inborn Genetic Diseases 90% * Parkinson Disease 81% * Phosphotransferases 75% * Latin America 57% ... Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinsons disease (LARGE-PD ... Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinsons disease (LARGE-PD ... PLoS Neglected Tropical Diseases. 9, 7, p. 1-26 26 p., A019.. Research output: Contribution to journal › Article › peer-review ...
Childrens Medical Center Research Institute at UT Southwestern (CRI) is a joint venture of UT Southwestern Medical Center and ... Inborn errors of metabolism Inborn errors of metabolism (IEMs) are a large category of rare human diseases caused by mutations ... Scientists in CRIs Genetic and Metabolic Disease Program (GMDP) are identifying the genetic basis of new human diseases and ... Genetic variation and human disease On average, the genetic makeup of any two people differs by 1 in every 1,000 base pairs, ...
Inborn Genetic Diseases 64% * Disorder 59% * Oman 50% * Qatar 25% 1 Citation (Scopus) ... Genetic disorders in the United Arab Emirates. Al-Gazali, L. & Ali, B. R., 2010, Genetic Disorders Among Arab Populations. ... Genetic Testing and Molecular Biomarkers. 16, 5, p. 366-371 6 p.. Research output: Contribution to journal › Article › peer- ... Akawi, N. A., Al-Jasmi, F., Al-Shamsi, A. M., Ali, B. R. & Al-Gazali, L., 2013, In: Orphanet Journal of Rare Diseases. 8, 1, 87 ...
Here is a listing of all Penn Vet research laboratories. ... in animal models of human genetic diseases. In these diseases, ... metabolic screening for inborn errors of metabolism, hematological, and other diagnostic services. ... including research to uncover the genetic basis and developing genetic tests for canine and feline diseases. ... which allows genetic diagnosis of embryos before transfer to avoid production of foals with genetic diseases, and methods for ...
Erdmann, J., 21.01.2021, In: Orphanet Journal of Rare Diseases. 16, 1, p. 41 41.. Research output: Journal Articles › Letters ... What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?. ... German AIBD Study Group, 19.05.2021, In: Orphanet Journal of Rare Diseases. 16, 1, p. 228 228.. Research output: Journal ... EU-GEI High Risk Study, 04.2021, In: Schizophrenia Research. 230, p. 104-107 4 p.. Research output: Journal Articles › Letters ...
... a potentially fatal genetic cardiac disease characterized by delayed myocardial repolarization. We use transfer entropy (TE) to ... Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › Scientific › peer-review ... a potentially fatal genetic cardiac disease characterized by delayed myocardial repolarization. We use transfer entropy (TE) to ... a potentially fatal genetic cardiac disease characterized by delayed myocardial repolarization. We use transfer entropy (TE) to ...
... and forum for research labs and societies worldwide. ... A hub covering the latest stem cell research and news from ... Neuromuscular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Nervous System Diseases. Interventions: ... Clinical Trials: Musculoskeletal Disease. Each Clinical Trial will open in a new browser window or tab. ... Sponsors: Jagiellonian University; National Center for Research and Development, Poland; KCRI. Not yet recruiting ...
Alzheimers Research UK Thames Valley * Alzheimers Research UK Thames Valley Network Members ...
Treatment for Krabbes disease: Finding the combination. (2016) Journal of neuroscience research. 94 (11): 1126-37. doi:10.1002 ... Graziano AC, Cardile V. History, genetic, and recent advances on Krabbe disease. (2015) Gene. 555 (1): 2-13. doi:10.1016/j.gene ... Related articles: Inborn errors of metabolism. * disorders of carbohydrate metabolism*glycogen storage disease ... lysosomal storage diseases *free sialic acid storage disorders (e.g. Salla disease) ...
Inborn genetic diseases*Inborn errors of metabolism*Brain Diseases, Metabolic, Inborn*Disorder of the urea cycle metabolism* ... CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar ...
Genetic Diseases, Inborn. *Integrative Medicine. .single-neutral-profile-picture_svg__cls-1{fill:none;stroke:currentColor; ... Community-Engaged Research (CEnR). .add_svg__a{fill:none;stroke:currentColor;stroke-linecap:round;stroke-linejoin:round}. ...
Genetic Diseases, Inborn. *Diseases. *Autism Spectrum Disorder. *Neurodevelopmental Disorders. .single-neutral-profile-picture_ ... Community-Engaged Research (CEnR). .add_svg__a{fill:none;stroke:currentColor;stroke-linecap:round;stroke-linejoin:round}. ...
Research activities include a partnership with Roche focused on inflammatory bowel disease (IBD), and a collaboration with ... both inborn errors of metabolism, as well as other disorders in which the disease-specific metabolites transit through the GI ... This pipeline is fueled by the Synthetic Biotic platform, which applies precision genetic engineering to well-characterized ... This enables Synlogic to create GI-restricted, oral medicines designed to consume or modify disease-specific metabolites - an ...
ORD Home , Rare Diseases Terms , Genetic and Rare Diseases Information Center. Research and Clinical Trials , Research and ... Train graduate students, pediatric residents, clinical fellows and junior faculty members in the field of inborn errors of ... Extramural Research Program NIH Establishes Rare Diseases Clinical Research Network. Rare Diseases Clinical Research Network On ... for rare diseases research. The supplemental grants ranged from research on prion disease to scleroderma, to congenital heart ...
Research Focus. Use of molecular technologies in the diagnosis of genetic diseases, clinical genetics, and dysmorphology; ... educational programs in medical genetics residency training, Newborn screening and inborn errors of metabolism. ... Primary ovarian insufficiency in classic galactosemia: Current understanding and future research opportunities. Journal of ... National Society of Genetic Counselors, Perinatal Quality Foundation and Society for Maternal Fetal Medicine. Obstet Gynecol ...
The hypothesis that inborn errors of immunity underlie infectious diseases is gaining experimental support. However, the ... A coherent genetic architecture of infectious diseases is lacking. We suggest that life-threatening infectious diseases in ... His group studies the human genetic determinism of pediatric infectious diseases, particularly mycobacterial diseases, invasive ... Responsible Conduct of Research Training*Instruction in Responsible Conduct of Research - Postdoc IRTA, CRTA, VF, Research ...
... in studying the human genetic basis of life-threatening diseases that strike previously healthy human beings. In particular, ... They are therefore focusing their research on: (1) attempting to discover monogenic IEI underlying severe forms of COVID-19 in ... they and others have identified monogenic (involving a single gene) inborn errors of immunity (IEI) that selectively underlie ... Tayfun Özçelik, dean of the Faculty of Science, is serving as a member of the steering committee of the COVID Human Genetic ...
All About Rare Diseases and Genetic Disorders. In the US a rare disease is defined as a health condition affecting 200,000 ... Research is leading to a better understanding of the genetic basis for neuromuscular disorders, including SMA, and new ... Importance of Medical Foods and the Alphabet Soup of Inborn Errors of Metabolism. For people with inborn errors of metabolism ( ... Direct-to-Consumer Genetic Testing & Children. The Genetic Counseling team explains what to consider when looking for a service ...
CureGN Consortium, Jun 2023, In: American Journal of Kidney Diseases. 81, 6, p. 695-706.e1. Research output: Contribution to ... A genetic disorder reveals a hematopoietic stem cell regulatory network co-opted in leukemia. Voit, R. A., Tao, L., Yu, F., ... the SPARK Consortium, Jun 2023, In: Autism Research. 16, 6, p. 1210-1224 15 p.. Research output: Contribution to journal › ... Age of Onset and Disease Course in Biopsy-Proven Minimal Change Disease: An Analysis From the Cure Glomerulonephropathy Network ...
... and research funding institutions make up some of the vital pieces of this team. When a new genetic disease is suspected, all ... Inborn errors of metabolism include biochemical disorders due to a genetic defect in the structure and/or function of a protein ... With this distinction, congenital diseases can be genetic, but not all congenital diseases are genetic.2 For example, an ... The number and variety of genetic diseases is extremely large and many of them are very rare, with new diseases recognized at ...
Inherited metabolic disorders (IMDs), also known as Inborn errors of metabolism (IEM) are a group of rare disorders caused by ... Learn more about latest research. News article about recent systematic review and meta-analysis exploring why protein ... Overview of the management of Maple Syrup Urine Disease (MSUD). By Dr Kevin Strauss M.D. - Medical Director, Clinic for Special ... International expert speakers will share the latest insights into the management of maple syrup urine disease. Join them and ...