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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

Familial Hypercholesterolemia – Are you hiding in plain sight?

September 23, 2021 Jessica Dronen, MS, CGC 1 Comment

September is National Cholesterol Education Month! We’d like to take this time to highlight a common genetic disorder that is highly underdiagnosed – Familial Hypercholesterolemia. What is Familial Hypercholesterolemia (FH)?… CONTINUE

Filed Under: Advocacy Tagged With: #FHCantWait, #KnowFH, CAD, CASCADE FH® Registry, coronary artery disease, diagnosis, Familial Hypercholesterolemia, FH, FH Awareness Day, FH Foundation, FH Global Summit, FIND FH®, genetic disorder, Jessica Dronen, LDL, National Cholesterol Education Month, ThinkGenetic

ThinkGenetic Selected as a Venture Atlanta 2021 Showcase Company

September 22, 2021 Ruth O'Keefe Leave a Comment

Over $6.5 billion in funding awarded to date; leading tech investment conference continues to select large and diverse lineup of innovators from the Southeast’s hottest tech markets     ATLANTA… CONTINUE

Filed Under: News, Press Tagged With: Allyson Eman, Atlanta Startup Battle, Dawn Laney, FindEHR, ThinkGenetic, Venture Atlanta

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

ThinkGenetic Goes Virtual for NSGC – Presenting Research Results at Annual Education Conference

September 20, 2021 Ruth O'Keefe Leave a Comment

This year the NSGC will again be hosting it’s annual educational event virtually. This doesn’t mean we cannot still join together to discuss all things genetic! NSGC has partnered with… CONTINUE

Filed Under: Events Tagged With: genetic counselor, NSGC, virtual booth

ThinkGenetic Named a Finalist for The MIT Solve Horizon Prize

September 13, 2021 Ruth O'Keefe Leave a Comment

On September 13, 2021, ThinkGenetic was officially named a finalist for The Horizon Prize, a global innovation challenge seeking solutions to speed diagnosis and care for people impacted by rare… CONTINUE

Filed Under: News Tagged With: analytics, big data, challenge, finalist, global innovation, investment, MIT Solve, startup, tech, The Horizon Prize

Introducing Aaliyah Heyward – ThinkGenetic’s 2021 Intern Class

July 29, 2021 Ruth O'Keefe Leave a 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: Team Tagged With: Aaliyah Heyward, genetic counseling, intern, ThinkGenetic

Rare Chromosome Disorder Awareness Day Book Spotlight: “Raising the Goddess of Spring” by Stephanie Rese

June 24, 2021 Jessica Dronen, MS, CGC Leave a Comment

by Jessica Dronen, MS, CGC, Genetic Diseases Research and Information Specialist Today is Rare Chromosome Disorder Awareness Day! In honor of that we have a special edition of ThinkGenetic’s book… CONTINUE

Filed Under: Advocacy, Education, Genetic Book Club Tagged With: #RareChromo, #rarechromoday, #shinebrighttogether, #UniqueNotAlone, Beverly Searle, C22C, chromosome, Chromosome 22 Central, chromosome disorder, DNA, Emanuel Syndrome, genetics, inheritance, Jessica Dronen, Melissa Carter, Murney Runholm, parenting, Raising the Goddess of Spring, Rare Chromosome and Gene Disorder Support Group, rare chromosome disorder awareness day, Stephanie Rese, UNIQUE

June book spotlight: “Run to the Light” by Laura King Edwards

June 4, 2021 Jessica Dronen, MS, CGC Leave a Comment

by Jessica Dronen, MS, CGC, Genetic Diseases Research and Information Specialist Welcome to ThinkGenetic’s June genetic book spotlight!  In this series we combine a review of one or more books… CONTINUE

Filed Under: Advocacy, Education, News Tagged With: Batten disease, Batten Disease Support and Research Association, BBDF, BDSRA, Beyond Batten Foundation, book club, Family Education Conference, International Batten Disease Awareness Day, Jessica Dronen, Laura King Edwards, neuronal ceroid lipofuscinoses, Run to the Light, Sibling Leadership Network, Sibling Leadership Network Conference, Sibling Support Project, SibShops

May Book Spotlight: “Salt in My Soul: An Unfinished Life” by Mallory Smith

May 7, 2021 Jessica Dronen, MS, CGC Leave a Comment

by Jessica Dronen, MS, CGC, Genetic Diseases Research and Information Specialist, ThinkGenetic Welcome to ThinkGenetic’s May genetic book spotlight!  In this series we combine a review of one or more… CONTINUE

Filed Under: Education, Genetic Book Club Tagged With: #CFawareness, #CFAwarenessMonth, #CysticFibrosis, book club, cystic fibrosis, Jessica Dronen

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

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

Job Posting: Genetic Diseases Research and Information Specialist in Lafayette

March 5, 2021 Ruth O'Keefe Leave a Comment

Click to Apply (LinkedIn Easy Apply) Posted March 5, 2021 As a Genetic Diseases Research and Information Specialist, you will be responsible for working with ThinkGenetic data scientists, senior genetic… CONTINUE

Filed Under: Career, Lafayette

Job Posting: Full Stack Java Developer in Lafayette Louisiana

February 4, 2021 thinkgenetic Leave a Comment

Click to Apply (LinkedIn Easy Apply) Posted February 4, 2021 Job Overview We are expanding our efforts to shorten the time to diagnosis for rare genetic diseases by deploying our… CONTINUE

Filed Under: Career, Lafayette Tagged With: career, Java Developer, job, Lafayette

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

Job Posting: Full Stack Java Developer in Lafayette Louisiana

November 23, 2020 thinkgenetic Leave a Comment

ThinkGenetic Job Posting - Java Developer

Click to Apply (LinkedIn Easy Apply) Job Overview We are expanding our efforts to shorten the time to diagnosis for rare genetic diseases by deploying our disease screening algorithms on… CONTINUE

Filed Under: Career, Lafayette

Job Posting: Senior Data Engineer in Lafayette Louisiana

November 23, 2020 thinkgenetic Leave a Comment

ThinkGenetic Job Posting - Senior Data Engineer

Click to Apply (LinkedIn Easy Apply) Job Overview We are expanding our efforts to shorten the time to diagnosis for rare genetic diseases by applying our disease screening algorithms to… CONTINUE

Filed Under: Career, Lafayette Tagged With: career, job, Lafayette, Senior Data Engineer

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