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New Study Results: Severity scoring system to identify patient risk for genetic conditions #NSGC21

September 23, 2021 Ruth O'Keefe Leave a Comment

Development and implementation of an automated severity scoring system to identify patients at possible increased risk for specific genetic conditions NSGC 2021 Poster UM353 Authors: Dawn Laney, MS, CGC 1,2… CONTINUE

Filed Under: Education, Events, News Tagged With: AI, algorithm, Dawn Laney, differential diagnosis, EHR, electronic health records, Emory University, Fabry disease, Gaucher disease, genetic condition, genetic counselor, genetic risk, hereditary angiodema, ICD10, Jessica Dronen, Lafayette General Hospital, machine learning, medical records, NSGC21, patient identification, pilot project, research study, Takeda, ThinkGenetic, ThinkGenetic Foundation, UM353

April Book Spotlight: “Can I Play if I Have Fabry?” by Dawn Laney

April 8, 2021 Jessica Dronen, MS, CGC 1 Comment

by Jessica Dronen, MS, CGC, Genetic Diseases Research and Information Specialist, ThinkGenetic Welcome to ThinkGenetic’s first genetic book spotlight! Starting this month we will be pairing a review of one… CONTINUE

Filed Under: Education, Genetic Book Club Tagged With: book club, Can I Play if I Have Fabry, childrens book, Dawn Jacob, Dawn Jacob Laney, Fabry, Fabry disease, Fabry Support and Information Group, FSIG, Jessica Dronen, National Fabry Disease Foundation, NFDF

ThinkGenetic Announces Integration of Innovative Diagnostic Aid in Takeda Pilot Awareness Initiative

December 15, 2020 Ruth O'Keefe 2 Comments

ThinkGenetic - Takeda - Pilot Partnership

Pilot program brings genetic tools and education to patients searching for answers tied to their chronic medical conditions in Taiwan, Mexico, Argentina, Brazil, Turkey, and Russia BOSTON, December 15, 2020… CONTINUE

Filed Under: News, Press Tagged With: Fabry disease, Gaucher disease, genetic disease, Hunter syndrome, MPS II, partnership, pilot, Shire, Takeda, ThinkGenetic

Fabry Disease Study Using ThinkGenetic Diagnostic Aid to be Showcased at WORLDSymposium

December 20, 2017 Ruth O'Keefe Leave a Comment

ThinkGenetic SymptomMatcherTM Diagnostic Aid Tested for Patients with Fabry Disease in Study by Emory University School of Medicine, Grady Memorial Hospital and University of Georgia College of Pharmacy ThinkGenetic today… CONTINUE

Filed Under: Events Tagged With: Carol Ogg, Dawn Jacob Laney, diagnostic odyssey, Emory University School of Medicine, Fabry disease, genetic disease, Grady Memorial Hospital, lysosomal diseases, Morgan Simmons, SymptomMatcher, Taylor Mitchell, ThinkGenetic SymptomMatcher, University of Georgia College of Pharmacy, WORLDSymposium

Partnership in the FDNA Year of Discovery

May 15, 2017 Carol Ogg, BS Pharm 2 Comments

   Not too long ago it was taught in medical school that rare diseases were just that- rare and you probably wouldn’t see a patient with a rare disease in… CONTINUE

Filed Under: Education, Partners Tagged With: Carol Ogg, Fabry, Fabry disease, Face2Gene, Facial Phenotypes, FDNA, Homocystinuria, IEM, inborn errors of metabolism, inherited metablic disorder, LSD, lysosomal storage diseases, metabolic conditions, MPS Diseases, Mucopolysaccharidosis, Rare Disease, Year of Discovery

ThinkGenetic to Attend and Exhibit at 13th Annual WORLDSymposium™

January 27, 2017 Ruth O'Keefe Leave a Comment

ThinkGenetic is excited to be heading to sunny San Diego, California this February to participate in the annual Lysosomal Disease Network WORLDSymposium.  The Symposium is an interdisciplinary forum to explore,… CONTINUE

Filed Under: Events Tagged With: alpha mannosidosis, Carol Ogg, Dave Jacob, Dawn Laney, diagnosis, Fabry disease, Gaucher disease, Krabbe disease, LSD, lysosomal disease, lysosomes, Morgan Simmons, Mucolipidosis, Mucopolysaccharidosis, neuronal ceroid lipfuscinosis, pompe disease, Ruth O'Keefe, Sandhoff disease, Tay-sachs disease, WORLDSymposium, WORLDSyposia

Weekly Site Update for 10/25/2016

October 25, 2016 thinkgenetic Leave a Comment

recently added updates

ThinkGenetic strives to create, update and review content regularly to ensure the information we provide is accurate, referenced and available 24/7 to our audience. If you wish to see your… CONTINUE

Filed Under: Updates Tagged With: alpha-Gal, angiokeratomas, Barrett's esophagus, esophageal adenocarcinoma, Fabry disease, genetic condition, GLA gene, GNE Myopathy, GNEM, I-cell disease, Isovaleric acidemia, IVD gene, Leber hereditary optic neuropathy, Mucolipidosis ii alpha, Mucolipidosis ii beta, muscular dystrophy

Weekly Site Update for 09/19/2016

September 19, 2016 thinkgenetic Leave a Comment

recently added updates

ThinkGenetic strives to create, update and review content regularly to ensure the information we provide is accurate, referenced and available 24/7 to our audience. If you wish to see your… CONTINUE

Filed Under: Updates Tagged With: Achondroplasia, dwarfism, Fabry, Fabry disease

Weekly Site Update for 09/12/2016

September 12, 2016 thinkgenetic Leave a Comment

recently added updates

ThinkGenetic strives to create, update and review content regularly to ensure the information we provide is accurate, referenced and available 24/7 to our audience. If you wish to see your… CONTINUE

Filed Under: Updates Tagged With: 2-Methyl-3-Hydroxybutryric acidemia deficiency, 2M3HBA, achondrogenesis, acromicria, ADAMTSL4, Aicardi, aicardi syndrome, alpha mannosidosis, Alpha-thalassemia, ALS, Alzheimer disease, Amyotrophic lateral sclerosis 1, and premature menopause syndrome, ARPKD, Autosomal recessive polycystic kidney disease, Barrett esophagus, CAH, CARASIL, Cartilage-hair hypoplasia, Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, CHH, Congenital Adrenal Hyperplasia, Congenital insensitivity to pain, Congenital lactase deficiency, Cri-du-chat syndrome, DHMN5, Dihydrolipoamide dehydrogenase deficiency, Distal hereditary motor neuropathy, DLD, eye disorder, Fabry disease, Fetal parvovirus syndrome, Fetal trimethadione syndrome, Fragile x tremor/ataxia syndrome, FXTAS, GA-1, GA-2, Gaucher disease, genetic disease, genetic disorder, Glutaric acidemia, Glutaric acidemia type 1, Glutaric acidemia type 2, HD, Hereditary Diffuse Gastric Cancer, Hereditary polyneuropathy, Huntington's disease, intellectual disability, isoleucine, Li-fraumeni syndrome, Lundberg syndrome, mental retardation syndrom, Mitochondrial Neurogastrointestinal Encephalopathy, Mucopolysaccharidosis type (MPS) IV, Muir-Torre syndrome, NBS, Nemaline Myopathy, Neuronal ceroid lipofuscinosis, Nijmegen breakage syndrome, Ornithine Transcarbamylase Deficiency, Thalidomide embryopathy, Tridione, Trisomy 20p, Trisomy 8q, type V, x-linked, X-linked juvenile retinoschisis

6th Annual Fabry Family Medical Conference

September 6, 2016 Ruth O'Keefe Leave a Comment

Featured - NFDF

On September 8-9, 2016 in Greensboro, North Carolina the National Fabry Disease Foundation (NFDF) will be hosting it’s annual Fabry Family Medical Conference. An important event for all individuals with Fabry disease… CONTINUE

Filed Under: Events, News Tagged With: Dave Jacob, Dawn Laney, Emory University, Fabry, Fabry disease, Fabry Family Medical Conference, genetic counselor, National Fabry Disease Foundation, NFDF, Ruth O'Keefe

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