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Introducing Aeran Melancon – ThinkGenetic Intern

March 13, 2023 Ruth O'Keefe Leave a Comment

Aeran Melancon – ThinkGenetic Intern

ThinkGenetic is honored to work with incredible interns eager to help ThinkGenetic achieve its mission of reaching and empowering those living with and at risk for genetic conditions. With each… CONTINUE

Filed Under: Team Tagged With: Aeran Melancon, digital marketing intern, ThinkGenetic intern

ThinkGenetic to Attend ACMG/SIMD Joint Meeting

March 10, 2023 Ruth O'Keefe Leave a Comment

ThinkGenetic announces its participation at the 2023 ACMG Annual Clinical Genetics Meeting which is being held in conjunction with the Society for Inherited Metabolic Disorders Meeting for the first time… CONTINUE

Filed Under: Events Tagged With: @SIMDtweets, #ACMGMtg23, #SIMD2023, ACMG, Annual Clinical Genetics Meeting, Dawn Laney, Jessica Dronen, medical genetics, metabolics, SIMD, Society for Inherited Metabolic Disorders

ThinkGenetic Announces Participation at 19th Annual WORLDSymposium™ 2023

February 8, 2023 Ruth O'Keefe 1 Comment

ThinkGenetic announces that Chief Genetic Officer, Dawn Laney, MS, CGC, CCRC, will be participating in a 19th Annual WORLDSymposium™ Satellite Symposia entitled “Understanding Phenotypic Variability in Lysosomal Diseases – Gaining… CONTINUE

Filed Under: Events, News, Team Tagged With: Dawn Laney, lysosomal diseases, Takeda, Takeda Pharmaceutical Company Limited, WORLDSymposium

ThinkGenetic Announces Cian Robinson as Chief Revenue Officer to Focus on Growth and Partnership Opportunities

February 7, 2023 Ruth O'Keefe Leave a Comment

New Chief Revenue Officer position filled by award-winning entrepreneur and community leader, Cian Robinson, MS, EdD-ABD Hartsville, SC, FEB 7, 2022 – ThinkGenetic, Inc. (thinkgenetic.com) today announces the onboarding of… CONTINUE

Filed Under: Events, News, Press, Team Tagged With: Chief Revenue Officer, Cian Robinson, FindEHR, FindSM, investment, staff, Team, WORLDSymposium

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

Part 2 of ThinkGenetic Leadership Team Interview with RV Radio

December 16, 2022 Ruth O'Keefe 1 Comment

In this second part of episode 4, RV Radio with Robinson Ventures continue the conversation with four members of the ThinkGenetic Leadership Team to focus the conversation on the day-to-day… CONTINUE

Filed Under: News, Press Tagged With: Cian Robinson, Dave Jacob, Dawn Laney, FindEHR, investment, Len Barker, podcast, Robinson Ventures, Ruth O'Keefe, RV Radio, startup, SymptomMatcher, ThinkGenetic

Creating an Inclusive Table: Celebrating PKU Awareness

December 15, 2022 Jocelyn Wang Leave a Comment

by Jocelyn Wang, MMSc candidate December is a big month for awareness days and celebrations. One that you might not be aware of is Phenylketonuria (PKU) Awareness Day which is… CONTINUE

Filed Under: Advocacy, Education Tagged With: awareness, Baby's First Test, Jocelyn Wang, Mayo Clinic, Medline Plus, NBS, newborn screening, Phe, Phenylalanine, PKU, PKU diagnosis, PKU holidays, PKU Newborn Screening, PKU receipe

Part 1 of ThinkGenetic Leadership Team Interview with RV Radio

November 22, 2022 Ruth O'Keefe 1 Comment

The ThinkGenetic leadership team was recently interviewed for the RV Radio podcast with Cian Robinson, discussing the origin of ThinkGenetic while giving insight into what it’s like to be diagnosed… CONTINUE

Filed Under: News, Team Tagged With: AccelerateSouth, Cian Robinson, Dave Jacob, Dawn Laney, Lafayette, Len Barker, MassChallenge, Robinson Ventures, Ruth O'Keefe, RV Radio, Shire, startup, Takeda, ThinkGenetic, Tucker Robinson

ThinkGenetic Announces Rene Matz as New Vice President of Business Development to Expand Global Adoption of Genetic Condition Product Lines FindEHR and SymptomMatcher

November 10, 2022 Ruth O'Keefe Leave a Comment

ThinkGenetic, Inc. recently announced the hire of business development expert, Rene Matz, RN as Vice President of Business Development. She will be primarily responsible for collaborating with pharmaceutical, biotech companies,… CONTINUE

Filed Under: News, Team Tagged With: Board of Advisors, Business Development, Carol Ogg, FindEHR, Len Barker, Rene Matz, SymptomMatcher, Team, ThinkGenetic

Accepting Applications: National Sales Representative

August 25, 2022 Ruth O'Keefe Leave a Comment

No longer accepting applications Posted: August 25, 2022 While ThinkGenetic is a startup company, our roots go back to a tech company started by our founders three decades ago. In… CONTINUE

Filed Under: Career Tagged With: career

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

Webinar for Living with Congenital Adrenal Hyperplasia

June 15, 2022 Ruth O'Keefe Leave a Comment

Living with CAH: Understanding Your Medications, Lab Results & Clinical Trial Opportunities Are you living with or caring for someone with congenital adrenal hyperplasia (CAH)? You’re invited to a special… CONTINUE

Filed Under: Events

World Sickle Cell Day 2022 is on June 19!

June 13, 2022 Jennifer Dykeman Leave a Comment

by Jennifer Dykeman, MMSc Candidate June 19th marks the annual celebration of World Sickle Cell Day! Did you know that about 100,000 Americans have sickle cell disease (SCD)? This condition… CONTINUE

Filed Under: Advocacy, Education Tagged With: Centers for Disease Control and Prevention, hemoglobin, Inc., Jennifer Dykeman, red blood cells, SCD, sickle cell, Sickle Cell Disease Association of America, The National Society of Genetic Counselors, World Sickle Cell Day

Accepting Applications: Full Stack C# Developer

June 1, 2022 Ruth O'Keefe Leave a Comment

No longer accepting applications Join ThinkGenetic to help those living with genetic diseases while working with a fun algorithm, NLP and AI team! Job Overview We are expanding our team… CONTINUE

Filed Under: Career

Justin Hardy’s Inspiring Story and Hereditary Diffuse Gastric Cancer Awareness

April 14, 2022 Stacy Partin Leave a Comment

Bears basketball player Justin Hardy takes the court at the NCAA Division III men’s basketball game between Emory University and the WashU Bears at the Field House on Feb. 11. (Photo: Danny Reise/Washington University)

by Stacy Partin, ThinkGenetic Intern Editor’s note: Since the time of this publication Justin Hardy has unfortunately passed away due to complications from his gastric cancer. He died peacefully in his home… CONTINUE

Filed Under: Advocacy Tagged With: cancer, CDH1, CDHC, gene change, genetic disease, Hereditary Diffuse Gastic Cancer, inspiration, Justin Hardy, National Institutes of Health, No Stomach for Cancer, stomach cancer

Supporting Rare Disease Day 2022

February 25, 2022 Jennifer Dykeman 2 Comments

by Jennifer Dykeman, MMSc Candidate, 2023 February 28th is Rare Disease Day! In the United States, a disease is defined as rare if it affects less than 200,000 people. It… CONTINUE

Filed Under: Advocacy, Advocacy Alliance, Events, News Tagged With: advocacy, Find a Genetic Counselor, GARD, Genetic and Rare Disease Information Center, National Organization for Rare Diseases, National Society of Genetic Counselor, NIH, NORD, NSGC, patient services, Rare Disease Day

People Live When People Give – National Blood Donor Month

January 27, 2022 Jessica Dronen, MS, CGC Leave a Comment

January is National Blood Donor Month!  Awareness of blood donation is extra important this year as the United States and countries around the world are currently facing historic blood shortages…. CONTINUE

Filed Under: Advocacy Tagged With: American Red Cross, blood crisis, blood donation, blood shortage, blood transfusion, blood type, genetic blood disorders, genetic counseling, Jessica Dronen, National Blood Donor Month, OneBlood, sickle cell disease, ThinkGenetic

Taking a Closer Look at Advocacy- The SynGAP1 Research Fund

January 11, 2022 Jessica Dronen, MS, CGC Leave a Comment

Collaboration, Transparency, Urgency 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… CONTINUE

Filed Under: Advocacy, Advocacy Alliance, Partners Tagged With: Advocacy Alliance, Dawn Laney, Mike Graglia, SYNGAP, SynGAP Research Fund, SYNGAP1

Healthy Communities Healthy Babies – It’s National Birth Defects Awareness Month!

January 10, 2022 Jessica Dronen, MS, CGC Leave a Comment

January is National Birth Defects Awareness Month (NBDAM)!  Did you know that 1 in 33 babies born in the United States has a birth defect? That’s about one baby born… CONTINUE

Filed Under: Advocacy, Education Tagged With: birth defects, CDC, Centers for Disease Control and Prevention, cleft lip, cleft palate, club foot, Find a Genetic Counselor, MotherToBaby, National Birth Defects Awareness Month, National Birth Defects Prevention Network, NBDAM, NBDPN, spina bifida, The National Society of Genetic Counselors

New Research to be Presented at AAAAI 2022 on Hereditary Angioedema

January 8, 2022 Ruth O'Keefe Leave a Comment

ThinkGenetic is proud to announce a recent collaborative research project will be presented at the 2022 American Academy of Allergy, Asthma & Immunology (AAAAI) annual meeting this February 25-29th in… CONTINUE

Filed Under: Education, Events, Research Tagged With: AAAI, algorithm, Amanda Logue, American Academy of Allergy, Ami Rosen, Asthma & Immunology, C1-inhibitor, Dave Jacob, Dawn Laney, EHR, HAE, Hereditary angioedema, Jessica Dronen, Jingjing Yang, LSDC, Marc Riedl, Marissa Shams, research, sensitivity, specificity, 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

‘Tis the Season of Giving- Tips for Sharing your Health History with Family Members

December 16, 2021 Jessica Dronen, MS, CGC Leave a Comment

Family Get Together During Holidays

We at ThinkGenetic hope that you and yours have had a wonderful holiday season! We’d like to take the time to remind everyone that while you may be rushing to… CONTINUE

Filed Under: Education Tagged With: cancer screening, colon cancer, colon polyps, diabetes, Familial Hypercholesterolemia, family history, FH, genetic counselor, genetics, health history, high blood pressure, high cholesterol, inheritance, Jessica Dronen, medical information, osteoporosis, precancerous, thyroid disease

Introducing Jennifer Dykeman – ThinkGenetic’s 2021 Intern Class

November 11, 2021 Ruth O'Keefe 1 Comment

ThinkGenetic is honored to work with incredible interns eager to help ThinkGenetic achieve its mission of reaching and empowering those living with and at risk for genetic conditions. With each… CONTINUE

Filed Under: News Tagged With: Emory University, genetic counseling, intern, Jennifer Dykeman, Master of Medical Science, ThinkGenetic

Research in Artificial Intelligence for Rare Genetic Diseases

November 11, 2021 Sarika Kondra Leave a Comment

The number of AI-based research publications on rare diseases from 2010-2019.

There are over 7000 rare genetic disorders (RGD) and only 5% of them have FDA approved treatments. Though the number of RGDs is high, they are heterogenous and geographically disparate…. CONTINUE

Filed Under: Tech Tagged With: artificial intelligence, rare genetic disease, research, Sarika Kondra

Application of Natural Language Processing in Clinical Applications

October 14, 2021 Sarika Kondra Leave a Comment

Figure 3: Drug-Dosage-Frequency-Channel relations of using SparkNLP Healthcare model.

Natural Language Processing is a field of computational linguistics, computer science and more specially artificial intelligence (AI) that uses statistics, machine learning (ML) and deep learning (DL) techniques to understand… CONTINUE

Filed Under: Tech Tagged With: AI, artificial intelligence, big data, data, De-identification of records, dependency parsing, lemmatization, Named Entity Recognition, Natural Language Processing, Negation Detection, NLP, part-of-speech, Part-of-Speech Tagging, POS Tagging, Relation Extraction, Sarika Kondra, Sentence Tokenization, stemming, Stemming and Lemmatization, tokenization, unstructured data, Word Tokenization

Massachusetts Startup Wins Horizon Prize, Powered by MIT Solve, with Algorithm-Based FindEHR Solution for Finding Undiagnosed Genetic Disorder Patients using Electronic Medical Records

October 7, 2021 Ruth O'Keefe Leave a Comment

2021 Concordia - ThinkGenetic

ThinkGenetic combines modern machine learning with practical information in genetics to solve a major concern in healthcare – the identification of patients living with undiagnosed rare genetic conditions Boston, MA,… CONTINUE

Filed Under: News Tagged With: AI, algorithm, artificial intelligence, Boston startup, Dave Jacob, electronic health records, FindEHR, Horizon Prize, Horizon Therapeutics, machine learning, Massachusetts Institute of Technology, medical health records, MIT Solve, ThinkGenetic, Tim Walbert, undiagnosed patients

Taking a Closer Look at Advocacy – The TSC Alliance®: Hope No Matter How Complex

October 7, 2021 Jessica Dronen, MS, CGC 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 work and rebranding… CONTINUE

Filed Under: Advocacy, Partners Tagged With: Dawn Laney, Educator Mentor Program, Jessica Dronen, rare genetic disease, TS Alliance, TSC, TSC Alliance, TSC clinics, Tuberous sclerosis, Tuberous sclerosis complex, tumors

Considering Genetic Testing for Cleft Lip and Palate?

September 28, 2021 Aaliyah Heyward Leave a Comment

September is Craniofacial Acceptance Month! To celebrate, we would like to take a moment to review cleft lip and palate, two of the most common physical differences seen at birth. … CONTINUE

Filed Under: Education Tagged With: Aaliyah Heyward, CL, CL/P, cleft lip, cleft palate, CP, Craniofacial Acceptance Month, genetic testing

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

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