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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

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

How Animals Help Us Understand Genetic Disease

August 2, 2017 Morgan Simmons, MMSc, CGC Leave a Comment

Genetic Condition and Animals - ThinkGenetic

Did you know that more than 50% of Americans own pets? Whether they have cats, dogs, horses, birds, or tropical fish – Americans are pet lovers. And while ThinkGenetic focuses… CONTINUE

Filed Under: Education Tagged With: animals and genes, Batten disease, CLHN6, CLN5, Ehlers-Danlos, Ernest Hemingway, Gaucher disease, gene mutations, genetic condition, genetic disease, genetic sequencing, Gregor Mendel, NCL, neuronal ceroid lipfuscinosis, pets, polydactyly, Thomas Hunt Morgan

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

ThinkGenetic Extends Handshake to the National Gaucher Foundation

October 6, 2016 Ruth O'Keefe Leave a Comment

Advocacy Partnership Leads to Increased Awareness and Future Contributions for Gaucher Disease In a show of support, the National Gaucher Foundation (NGF) has entered into an advocacy partnership agreement with… CONTINUE

Filed Under: News, Partners Tagged With: education, Gaucher disease, Len Barker, National Gaucher Foundation, NGF, Partners, Ruth O'Keefe

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

Weekly Site Update for 09/06/2016

September 6, 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: abnormalities, autism, dysplasia, Fragile X, Fragile X syndrome, Gaucher, Gaucher disease, GBA, Robinow, Robinow syndrome

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