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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

July is Hemochromatosis Awareness Month

July 7, 2022 Jennifer Dykeman Leave a Comment

Hemochromatosis Awareness - ThinkGenetic

by Jennifer Dykeman, MMSc Candidate Many people might not even know they have Hemochromatosis, a common genetic condition that can be diagnosed through a simple blood test. In honor of… CONTINUE

Filed Under: Advocacy, Education Tagged With: autosomal dominant, autosomal recessive, CDC, Centers for Disease Control and Prevention, gene, genetic change, genetic condition, hemochromatosis awareness month, Hemochromatosis.org, Hereditary hemochromatosis, HFE, HH, iron, phlebotomy, The National Society of Genetic Counselors, therapeutic blood removal

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

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 Partners with Genome Medical

May 11, 2018 Ruth O'Keefe Leave a Comment

New Partnership Strengthens ThinkGenetic’s Continued Effort to Reduce Time to Diagnosis In an influential move for the genetics community, ThinkGenetic (ThinkGenetic.com) and Genome Medical (GenomeMedical.com),  a nationwide specialty medical practice… CONTINUE

Filed Under: News, Partners Tagged With: AI, care team, diagnosis, genetic condition, genetic counselors, genetic testing, Genome Medical, HIPAA, medical practice, partnership, SymptomMatcher, telehealth

Do You Love Your Genetic Condition?

March 14, 2018 Morgan Simmons, MMSc, CGC Leave a Comment

ThinkGenetic Blog - Genetic Condition - Bottom Story - Morgan Simmons

Over the last few years, I’ve had the opportunity to work with patients at various stages in their diagnostic odyssey. I’ve seen people who have lived their whole lives knowing… CONTINUE

Filed Under: Education, News Tagged With: diagnosis, diagnostic odyssey, genes, genetic condition, genetic counseling, genetic diagnosis, genetic disease, Marfan syndrome, Morgan Simmons, Rare Disease Day

The FDA Adds Gene Therapy to the Menu

January 24, 2018 Morgan Simmons, MMSc, CGC 1 Comment

Sometimes (read: most of the time), I think we as a society are pretty spoiled. Unlike our ancestors, we live in an age where many medical conditions and ailments can… CONTINUE

Filed Under: Education, News Tagged With: blindness, FDA, gene therapy, genetic condition, genetic disease, inherited disease, Jesse Gelsinger, Leber congenital amaurosis, Luxturna, Morgan Simmons, rare diseases, Retinitis pigmentosa, RPE65 gene

Stealth BioTherapeutics Supports Addition of Mitochondrial Genetic Diseases in ThinkGenetic Knowledge Base

January 17, 2018 Ruth O'Keefe Leave a Comment

In a public press release this week, ThinkGenetic announced that Stealth BioTherapeutics (Stealth) has funded content design, content creation, and clinical trials advertising for mitochondrial diseases. As a first step… CONTINUE

Filed Under: News Tagged With: Barth syndrome, biopharmaceutical, Deepti Babu, genetic condition, genetic disease, Leber hereditary optic neuropathy, LHON, Mitochondrial, mitochondrial disease, mitochondrial disorders, primary mitochondrial myopathy, Stealth, Stealth BioTherapeutics, SymptomMatcher

Resilience: The Art of Caregiving

September 27, 2017 Deepti Babu, MS, CGC Leave a Comment

Preparing for Curves, Bumps, and Wrong Turns by Adding a Dose of Resilience By Adrienne D. Witol, PsyD, R Psych, Guest Contributor Editor’s Note: I am so tickled that my colleague… CONTINUE

Filed Under: Education Tagged With: Adrienne Witol, caregiver, family, genetic condition, genetic disorder, tips

Banging on the Newborn Screening Testing Ceiling: Unsung Hero-Advocates in Genetics

August 30, 2017 Dawn Laney, MS, CGC, CCRC | ThinkGenetic Co-Founder 4 Comments

Can you hear that faint thumping? The one that syncs with your heart when you lie quietly in bed after the kids are finally asleep after B-B-B (Bath-Book-Bed)? That is… CONTINUE

Filed Under: Education Tagged With: Dawn Laney, genetic condition, genetic disease, genetic disorder, genetic testing, newborn screening, RUSP

Genetic disease. Genetic condition. Genetic disorder. Is there a difference?

August 23, 2017 Morgan Simmons, MMSc, CGC 8 Comments

This question comes up often. To be honest, even after my training in genetic counseling, I’ve had to Google the difference between these terms not just once, but multiple times…. CONTINUE

Filed Under: Education Tagged With: genetic condition, genetic disease, genetic disorder, Morgan Simmons

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

Recent ThinkGenetic.com Condition Additions for 07/30/2017

July 30, 2017 Ruth O'Keefe 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 conditions and… CONTINUE

Filed Under: Updates Tagged With: Argininosuccinic aciduria, genetic condition, genetic disease, genetic disorder, Nephrotic syndrome type 1, Propionic acidemia, ThinkGenetic, Tuberous sclerosis

Recent ThinkGenetic.com Condition Additions for 06/23/2017

June 23, 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 conditions and… CONTINUE

Filed Under: Updates Tagged With: Argininemia, Charcot-Marie-Tooth disease, CMT, genetic condition, genetic disease, genetic disorder, genetic mutation, thinkgenetic.com

ThinkGenetic Announces Deepti Babu, MS, CGC as Vice President of Communications and Patient Advocacy

June 19, 2017 Ruth O'Keefe Leave a Comment

ThinkGenetic is happy to announce the hire of certified genetic counselor and medical writer, Deepti Babu, to Vice President of Communications and Patient Advocacy. She will have the primary responsibility… CONTINUE

Filed Under: News Tagged With: communication, Deepti Babu, GAGC, genetic condition, genetic counselor, genetic disease, hire, Len Barker, NSGC, patient advocacy

“Something Smells… Fishy”: The Use of Smell in Genetic Diagnoses

June 2, 2017 Morgan Simmons, MMSc, CGC 6 Comments

Use of Smell in Genetic Diagnoses

Genetic diseases can be diagnosed using a variety of methods: physical exam, personal/family medical history, or tests performed in a laboratory.  But, did you know that smells can also be… CONTINUE

Filed Under: Education Tagged With: genetic condition, getting diangosed, Isovaleric acidemia, maple syrup urine disease, Morgan Simmons, MSUD, olfactory receptors, PAH, Phenylketonuria, PKU, TMA, TMAU, Trimethylamiruria

Prince: A Pfeiffer Syndrome Father

January 26, 2017 Jennifer Sturges Shinn 12 Comments

Prince was one of the most successful musicians of all time. For over four decades he created a steady stream of Grammy and AMA award-winning music. Behind his music, his troubled childhood… CONTINUE

Filed Under: Education Tagged With: ACS5, FGFR2, genetic condition, genetic mutation, Mayte Garcia-Nelson, Oprah Winfrey, Pfeiffer syndrome, Prince

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

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

Top Five Reasons to Join a Support Group

September 21, 2016 Morgan Simmons, MMSc, CGC 4 Comments

Living with or being the caregiver, family member, or friend of someone living with a genetic condition can be overwhelming at times. In addition to having questions and concerns, many… CONTINUE

Filed Under: Education Tagged With: advocacy group, community, genetic condition, genetic disease, genetic disorder, Morgan Simmons, support group

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