ThinkGenetic Blog

News from ThinkGenetic

  • Home
  • FindEHR
  • Disease Knowledge Base
  • News
  • About Us
  • Contact Us
Browse Diseases

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

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

NGLY1 Added to ThinkGenetic Genetic Condition Knowledge Base

July 24, 2018 Ruth O'Keefe Leave a Comment

NGLY1 - Blog - Image

Co-founded by a patient advocate and a genetic counselor, ThinkGenetic helps individuals harness their personal power of advocacy by offering trustworthy information to guide them to the help they need,… CONTINUE

Filed Under: Education, Updates Tagged With: alacrima, autosomal recessive disorder, Congenital disorder of deglycosylation, Deficiency of N-glycanase 1, genetic disorder, NGLY1, NGLY1 deficiency, NGLY1-CDDG, NGLY1-Related Congenital Disorder of Deglycosylation, NGLY1-Related Disorder

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

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

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

Weekly Site Update for 11/15/2016

November 11, 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: adrenal cortex, Alzheimer, Alzheimer disease, ARSA, arylsulfatase A, atrophy, Beckwith-wiedemann syndrome, Bilateral renal agenesis, biotin, biotinidase, Biotinidase deficiency, birth defects, CARASIL, Choroideremia, congenital, Congenital Adrenal Hyperplasia, Cutis Laxa, dementia, DMD, Duchenne muscular dystrophy, dystroglycanopathies, EIEE2, Epileptic encephalopathy, fetal varicella syndrome, genetic disorder, GM2, HD, Hirschsprung disease, Holocarboxylase synthetase deficiency, Huntington's disease, lactase, Lactase deficiency, metabolic condition, Metachromatic leukodystrophy, MLD, Mowat-Wilson syndrome, Mucolipidosis iii alpha, Mucolipidosis iii beta, muscle disorder, muscular dystrophy, neurologic disorder, polydystrophy, Retinitis pigmentosa, Rubinstein-Taybi syndrome, seizures, strokes, Tay-sachs disease, vision, Walker-Warburg syndrome, WWS, Xeroderma pigmentosum, XP

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

Weekly Site Update for 09/12/2016

September 12, 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: 2-Methyl-3-Hydroxybutryric acidemia deficiency, 2M3HBA, achondrogenesis, acromicria, ADAMTSL4, Aicardi, aicardi syndrome, alpha mannosidosis, Alpha-thalassemia, ALS, Alzheimer disease, Amyotrophic lateral sclerosis 1, and premature menopause syndrome, ARPKD, Autosomal recessive polycystic kidney disease, Barrett esophagus, CAH, CARASIL, Cartilage-hair hypoplasia, Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, CHH, Congenital Adrenal Hyperplasia, Congenital insensitivity to pain, Congenital lactase deficiency, Cri-du-chat syndrome, DHMN5, Dihydrolipoamide dehydrogenase deficiency, Distal hereditary motor neuropathy, DLD, eye disorder, Fabry disease, Fetal parvovirus syndrome, Fetal trimethadione syndrome, Fragile x tremor/ataxia syndrome, FXTAS, GA-1, GA-2, Gaucher disease, genetic disease, genetic disorder, Glutaric acidemia, Glutaric acidemia type 1, Glutaric acidemia type 2, HD, Hereditary Diffuse Gastric Cancer, Hereditary polyneuropathy, Huntington's disease, intellectual disability, isoleucine, Li-fraumeni syndrome, Lundberg syndrome, mental retardation syndrom, Mitochondrial Neurogastrointestinal Encephalopathy, Mucopolysaccharidosis type (MPS) IV, Muir-Torre syndrome, NBS, Nemaline Myopathy, Neuronal ceroid lipofuscinosis, Nijmegen breakage syndrome, Ornithine Transcarbamylase Deficiency, Thalidomide embryopathy, Tridione, Trisomy 20p, Trisomy 8q, type V, x-linked, X-linked juvenile retinoschisis

Why My Kindred Spirit is a Rock Star

September 8, 2016 Dave Jacob Leave a Comment

CEO Post Austin Carlile

At first glance, it may not seem Austin Carlile, the front-man of the metal-core band Of Mice & Men and I have much in common. We grew up about 100… CONTINUE

Filed Under: News Tagged With: Austin Carlile, Cutis Laxa, Dave Jacob, Emory University, genetic disease, genetic disorder, IBM Watson, Marfan syndrome, Of Mice and Men

Partner Agreement with FSIG will Help Get Answers to the Fabry Disease Community

June 28, 2016 Ruth O'Keefe Leave a Comment

In a showing of mutual respect and appreciation, Fabry Support & Information Group (FSIG) signed an Advocate Partnership Agreement with ThinkGenetic. “We are truly thrilled to partner with ThinkGenetic and… CONTINUE

Filed Under: Partners Tagged With: advocacy, Dawn Jacob Laney, Dawn Laney, FLGenomics, FSIG, genetic disease, genetic disorder, GenomicsFest, Jack Johnson, partnership, Ruth O'Keefe, ThinkGenetic

Search the News & Press

Connect with Us

      
  • Home
  • News
  • About Us
  • Contact Us
  • Sponsor / Advertise
  • Disclaimers
  • Terms and Conditions
  • Privacy Policy
©2022 ThinkGenetic. All Rights Reserved.ThinkGenetic does not provide medical advice, diagnosis or treatment. Click here for more information.

Copyright © 2022 · Genesis Framework · WordPress · Log in