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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

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

Everyone’s a Mutant, After All – The Difference between Gene Mutations and Polymorphisms

September 13, 2017 Morgan Simmons, MMSc, CGC 1 Comment

If DNA is our body’s instructions for how to grow, develop, and function, then a change in these instructions must be bad, right? Turns out, not so much. In fact,… CONTINUE

Filed Under: Education Tagged With: direct-to-consumer testing, DNA, DTC genetic testing, gene mutation, genes, Morgan Simmons, mutation, polymorphism, VOUS, VUS

Site Update for Week of 12/12/2016

December 13, 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: 15q24 deletion syndrome, 16p12.2 microdeletion syndrome, Beckwith-wiedemann syndrome, BRCA1, breast-ovarian cancer, CADASIL, Chromosome 16p12.2-p11.2 deletion syndrome, Chromosome 22q11.2 duplication, chromosomes, DNA, Down syndrome, Galactosemia, Pfeiffer syndrome, Phelan-McDermid Syndrome, protein, Xeroderma pigmentosum

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

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