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Extracting Electronic Health Record (EHR) Data Using Transfer Learning

January 9, 2023 Corey Fournier, Senior Data Engineer 1 Comment

by Corey Fourier, Senior Data Engineer At ThinkGenetic, Inc. our goal is to reduce the time to diagnosis for genetic and rare conditions. Given they are rare, we must be… CONTINUE

Filed Under: Research, Tech Tagged With: algorithms, BERT model, clinical note, EHR, electronic health records, genetic conditino, genetic condition, Google, ICD-10, Medical Coding, medical record, misdiagnosed, Name Entity Recognition, Natural Language Processing, NLP, Procedures codes, Rare Disease, rare genetic disease, Relation Extraction, Semantic Role labeling, Shi and Lin, Snomed, structured data, T5, Text-to-text Transfer Transformers, undiagnosed, unstructured data

ThinkGenetic and Guardian Research Network Announce Partnership

July 28, 2022 Ruth O'Keefe 2 Comments

Guardian Research Network® and ThinkGenetic Announce Collaborative Partnership to Accelerate Diagnosis and Treatment Options for Patients with Genetic Diseases and Inherited Predisposition to Cancer Joint effort recognizes combined missions to support… CONTINUE

Filed Under: News, Partners, Press Tagged With: algorithm, announcement, Bruce Braughton, Dave Jacob, diagnostic odyssey, digital health, EHR, electronic health records, genetic condition, genetic disease, GRN, Guardian Research Network, healthcare, Mark Watson, partnership, press release, PTC Therapeutics, Rare Disease, ThinkGenetic

Event: Care Models and Advocating for Yourself with CARES Foundation

January 7, 2022 Ruth O'Keefe Leave a Comment

Are you living with or caring for someone with adrenal insufficiency (such as CAH, Addison’s disease, and PCOS)? You’re invited to a special online event… Webinar: Care Models; Advocating for… CONTINUE

Filed Under: Advocacy, Events Tagged With: adrenal insufficiency, advocacy, CAH, Care Model, caregiver, CARES Foundation, Cushing syndrome, Dawn Laney, Dina Matos, Emory University, genetic disease, patient care, patient-centered medical homes, PCMH, PCOS, Rare Disease, Spruce Biosciences, ThinkGenetic, webinar

Horizon Therapeutics Announces ThinkGenetic Curated Algorithms as Winning Solution of First-Ever Horizon Prize, Powered by MIT Solve, to Accelerate Rare Disease Diagnosis

September 21, 2021 Ruth O'Keefe Leave a Comment

MIT Solve Winners - Blog - Bottom Story

PRESS RELEASE – Source: Horizon Therapeutics plc Horizon Therapeutics plc Announces New Genetic Counselor Curated Algorithms and Next-Generation Sequencing Data as Winning Solutions of First-Ever Horizon Prize, Powered by MIT… CONTINUE

Filed Under: News, Press Tagged With: Alex Amouyel, algorithms, Congenica, Dave Jacob, FindEHR, funding, genetic counseling, global innovation challenge, Horizon Prize, Horizon Therapeutics, Innovation, Massachusetts Institute of Technology, MIT, MIT Solve, Rare Disease, ThinkGenetic, Tim Walbert

Ochsner Lafayette Healthcare Innovation Fund Invests in ThinkGenetic Vision for Genetic Disease Identification in Local Patients

April 20, 2021 Ruth O'Keefe Leave a Comment

Innovation Fund Investment - ThinkGenetic

LAFAYETTE, La., April 20, 2021 (Newswire.com) – Today ThinkGenetic, Inc. (thinkgenetic.com) announces the official acceptance of a $500,000 investment from the Ochsner Lafayette General Healthcare Innovation Fund. “After years of working… CONTINUE

Filed Under: Lafayette, News, Press Tagged With: artificial intelligence, Dave Jacob, genetic disease, Healthcare Innovation Fund, Lafayette, Lafayette General Health Systems, machine learning, Ochsner, Ochsner Lafayette General, Rare Disease, SymptomMatcher, ThinkGenetic

Unraveling Usher Syndrome through Community

September 21, 2019 Guest Author 1 Comment

EDITOR’S NOTE: It has been such an honor working with Lanya McKittrick, Krista Vasi, Dan and Annie Arabie, and other members of the vibrant Usher syndrome community. ThinkGenetic is delighted… CONTINUE

Filed Under: Advocacy, Lafayette, News, Partners Tagged With: #USHDAY, genetic disease, Hear See Hope Foundation, Lanya McKittrick, Rare Disease, Usher syndrome, Usher Syndrome Awareness Day, Usher Syndrome Coalition, USHFamily

Taking a Closer Look at Advocacy: Accelerating The Cures of Tomorrow

August 15, 2018 Ruth O'Keefe Leave a Comment

Rare Genomics Institute - Blog - Bottom Story

More than just an organization, advocacy partner, the Rare Genomics Institute (RG), is a community dedicated to helping rare disease patients find hope for a cure. Sharing a mission of… CONTINUE

Filed Under: Advocacy, Partners Tagged With: advocacy, advocacy partner, genetic condition, genetic disease, genetic disorder, iHope, Illumina, inherited condition, inherited disease, Len Barker, patient advocacy, Rare Disease, Rare Genomics Institute, Romina Oritz, tgadvocacy

Could a Biological Trojan Horse Help Us Cure Genetic Diseases?

August 8, 2018 Morgan Simmons, MMSc, CGC 10 Comments

Lab - Cells - Gene Therapy - Morgan Simmons -ThinkGenetic

Most medical treatments fall into four broad categories based on their goal: Preventive/prophylactic – avoiding the disease altogether Disease management – taking steps to ensure a long and healthy life… CONTINUE

Filed Under: Education Tagged With: clinical trials, disease management, DNA, gene therapy, genes, genetic condition, genetic counseling, genetic counselor, genetic disease, genetic disorder, genetic testing, germ line cells, inherited condition, Morgan Simmons, personalized medicine, Rare Disease, somatic cells, treatment genetic disease

Taking a Closer Look at Advocacy: Creating Hope with a Support Network for the Rare Disease Community

August 1, 2018 Ruth O'Keefe Leave a Comment

ThinkGenetic is honored to partner with many incredible organizations, each with their own stories, struggles and triumphs. This month, we are taking a moment to highlight the incredible work of… CONTINUE

Filed Under: Advocacy, Partners Tagged With: advocacy, advocacy partner, funding research, genetic condition, genetic disease, genetic disorder, inherited condition, inherited disease, patient advocacy, Rare Disease, Rare Disease Foundation, tgadvocacy

ThinkGenetic Declared a PULSE@MassChallenge Top Digital Health Startup

January 30, 2018 Ruth O'Keefe 1 Comment

In a recent press release, PULSE@MassChallenge announced that ThinkGenetic was accepted into the Boston-based 2018 startup class out of 500 worldwide applicants. Previous startups that have participated in PULSE@MassChallenge have… CONTINUE

Filed Under: News, Partners Tagged With: artificial intelligence, Mass Digital Health, Massachusetts eHealth Institute, MassChallenge, PULSE@MassChallenge, Rare Disease, Shire

Connecting, Collaborating, and Activating at the Vibrant 2017 RARE Patient Advocacy Summit

September 28, 2017 Dawn Laney, MS, CGC, CCRC | ThinkGenetic Co-Founder Leave a Comment

While many of our ThinkGenetic teammates helped others “harness their inner power” at the National Society of Genetic Counselors Annual Conference in Columbus, Ohio, ThinkGenetic CEO, Dave Jacob and I… CONTINUE

Filed Under: Events Tagged With: advocacy, Dave Jacob, Dawn Laney, Deborah Katz, Dekel Gelbman, Face2Gene, FDNA, genetic counselor, genetic disease, Global Genes, Rare Disease, summit, SymptomMatcher

Genetic Condition Update for 06/02/2017

June 2, 2017 thinkgenetic Leave a Comment

ThinkGenetic strives to create, update and review content regularly to ensure the information we provide is accurate, referenced and available 24/7 to anyone searching for answers on genetic diseases and… CONTINUE

Filed Under: Updates Tagged With: adenosine triphosphate, ATP, bones, brittle bone disease, creatine, dienoyl coa, dienoyl-coa reductase deficiency, fracture bones, GAMT, GAMT gene, genetic neurological disorder, Guanidinoacetate methyltransferase deficiency, neurologic disorder, OI, osteogenesis imperfecta, ovarian failure, Rare Disease, rare disorder, rare genetic disease, turner syndrome

A Very Special Audience: The Pope Focuses Attention on Huntington’s Disease and Rare Genetic Conditions

May 18, 2017 Dawn Laney, MS, CGC, CCRC | ThinkGenetic Co-Founder 2 Comments

Too often, due to a complex combination of fear, stigma, financial, and family implications, individuals affected by devastating rare genetic conditions like Huntington’s disease have been marginalized and misunderstood. Today,… CONTINUE

Filed Under: News Tagged With: Austedo, Dawn Jacob Laney, Dawn Laney, HD, HDSA, Huntington's disease, Huntington’s Disease Society of America, Louise Vetter, Pope Francis, Pope Francis I, Rare Disease, Rare Genetic Conditions

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

How Genetic Disease Families Push Through, Move Forward and Find Answers

May 5, 2017 Jennifer Sturges Shinn Leave a Comment

Such a sentiment is lived by the millions of individuals and families around the world who go through the genetic condition diagnostic odyssey. Search the news section on any rare… CONTINUE

Filed Under: News Tagged With: diagnosis, diagnostic odyssey, Gangliosidosis, genetic disease, Mowat-Wilson Symdrome, rare condition, Rare Disease

Rare Diseases Day 2017: The Cause & Celebrations

February 27, 2017 thinkgenetic Leave a Comment

Organized internationally by The European Organization (EURORDIS) for Rare Disorders and supported in the United States by the National Organization for Rare Disorders (NORD) and Global Genes, the last day… CONTINUE

Filed Under: Events Tagged With: #RareDiseaseDay, EURODIS, NORD, Rare Disease, Rare Disease Day

Site Update for Week of 01/17/2017

January 17, 2017 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 anyone searching for answers on genetic diseases and… CONTINUE

Filed Under: Updates Tagged With: genetic disorder, lysosomes, MCOLN1, Mucolipidosis, Mucolipidosis iv, Rare Disease

Site Update for Week of 12/01/2016

December 1, 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 anyone searching for answers on genetic diseases and… CONTINUE

Filed Under: Updates Tagged With: Acromegaly, Acyl-coa dehydrogenase, ADAMTSL4, Agammaglobulinemia, Alagille syndrome, Alkaptonuria, Campomelic dysplasia, Cartilage-hair hypoplasia, Ceroid lipofuscinosis, CHARGE syndrome, chromosome pairs, congenital heart defect, developmental delay, DNA, enzyme, Fabry, Gal-1-PUT, galactose-1-phosphate uridyl transferase, Galactosemia, gene, genetic condition, glucose, Glutaric acidemia, glycogen storage disease, growth hormone, Huntington, hypogonadotropic hypogonadism, Kallman syndrome, Leopard syndrome, Mosaic trisomy 14, Noonan syndrome, Otosclerosis, Pitt-Hopkins syndrome, pituitary gland, protein, PTHS, Rare Disease, rare genetic disorder, Rett syndrome, Robinow syndrome, Sandhoff disease, Sickle cell anemia, Spinal muscular atrophy, Stickler syndrome, sugar, SYNGAP1, triple X syndrome, Trisomy 13, Trisomy x, webbed neck, XXX

Laney Recruits Genetic Counselors to Help Fix Genetic Information on the Internet

September 28, 2016 Ruth O'Keefe Leave a Comment

For nearly twenty years, genetic counselor Dawn Jacob Laney, MS, CGC, CCRC, has scoured the internet for information related to her passion – genetic diseases and disorders. Her first foray… CONTINUE

Filed Under: News Tagged With: Dawn Laney, Emory University, genetic counselors, genetic disease, genetic sounseling, Global Genes, IBM Watson, Len Barker, NSGC, Rare Disease, Ruth O'Keefe, Sarah Lawrence College, ThinkGenetic

Video: Why ThinkGenetic is the Best New Innovation in Pediatric Healthcare

February 15, 2016 thinkgenetic

ThinkGenetic is a labor of love between ThinkGenetic, Inc., Emory University’s Department of Human Genetics and IBM. Supported by International Advocacy groups like The Legacy of Angels, NORD and Genetic… CONTINUE

Filed Under: News Tagged With: Dave Jacob, Dawn Laney, Department of Genetics, Emory School of Medicine, Emory University, Genetic Alliance, genetic disease, IBM, IBM Watson, Impact Pediatric pitch competition, Legacy of Angels, Rare Disease, rare genetic alliance, SXSW Interactive, ThinkGenetic

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