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Good Golly Miss Molly – The Birth of a Mascot for Pompe Disease

September 12, 2018 Lauren Bailey Flueckinger, MS, CGC 4 Comments

Molly bobs around the clinic room, her strawberry blonde hair bouncing with every move. She has spread out her array of toys – stickers, books, a baby doll named Jack… CONTINUE

Filed Under: Advocacy, Education Tagged With: adult onset pompe, cardiorespiratory, diagnosis, difficult breathing, early diagnosis, enlarged heart, enzyme deficiency, enzyme replacement therapy, fatigue, genetic diagnosis, genetic disease, Harmony School of Business, Hope travels, infantile Pompe, Julie Garfield, late onset pompe, muscle condition, muscle weakness, newborn screening, Pompe, pompe awareness, pompe community, pompe disease, Universal Screening Panel

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

How Being Your Own Best Advocate Can Lead to Better Care for Genetic Conditions

May 2, 2018 Morgan Simmons, MMSc, CGC 2 Comments

by Deon Durst, Guest Contributor, Patient Advocate Living with Cat Eye Syndrome Editor’s Note: I am overjoyed to share this informative piece written by a gentleman who first contacted us… CONTINUE

Filed Under: Advocacy, Education Tagged With: Cat Eye Syndrome, diagnosis, genetic diagnosis, ocular coloboma, patient advocacy, patient advocate, self-advocacy, ThinkGenetic

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

ThinkGenetic to Engage with Rare Disease Community at Global Genes’ 6th Annual RARE Patient Advocacy Summit

August 10, 2017 thinkgenetic Leave a Comment

ThinkGenetic, Inc. is delighted to be participating in the 6th Annual RARE Patient Advocacy Summit and Partnering and Investor Forum to further its mission of empowering the rare disease community… CONTINUE

Filed Under: Events Tagged With: artificial intelligence, Dave Jacob, Dawn Laney, Dekel Glebman, diagnosis, FDNA, Global Genes, rare patient advocacy summit

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

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

Boston Globe Article: “Wrong or late diagnosis likely to affect most Americans”

September 23, 2015 Ruth O'Keefe 2 Comments

In the article “Wrong or late diagnosis likely to affect most Americans” from September 23rd, Lena H. Sun touches on some key information uncovered in an report from the Institute of… CONTINUE

Filed Under: News Tagged With: Boston Globe, Brookings Institution’s Center for Health Policy, diagnosis, diagnostic error, health care error, Institute of Medicine, Lena H. Sun, National Academy of Sciences, National Quality Forum, To Err is Human

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