Tag Archives: genetics

A Consumer’s Reflections on #ACMGmtg 2014

Posted on April 22, 2014 by Empowered Advocacy

Recently, I had the opportunity to attend the American College of Genetics and Genomics meeting in Nashville, Tennessee. This opportunity was made available to me through a travel grant application I submitted through the regional genetics collaborative that I have … Continue reading →

Posted in Advocacy, Autism, Baby's First Test, Genetics, Medical, Mitochondrial Disease, Newborn Screening, Research | Tagged #ACMGmtg 2014, ACMG, epigenetics, epigenome, genes, genetics, inborn errors of metabolism, Medical Genetics, newbornscreening, NYMAC, penetrance, syndromes, undiagnosed diseases | 1 Comment

Snips about SNPs ~ MTHFR

Posted on March 24, 2013 by Empowered Advocacy

1. What is it~MTHFR? MTHFR represents a gene called methylenetetrahydrofolate reductase. For more on MTHFR you can see this post we wrote a while back. 2. What SNPs have been studied? Which ones are most common or of most health interest? … Continue reading →

Posted in Genetics, Medical, Methylation, MTHFR, Snips about SNPs | Tagged A1298C, C677T, DNA, folate, folic acid, folinic, genetic, genetics, health, heterozygous, homozygous, methylation, MTHFR, pediatrics, SNP, SNP's | 6 Comments

Mountains States Genetics Regional Collaborative Annual Meeting 2012-2013

Posted on March 21, 2013 by Empowered Advocacy

Two years ago, I was doing some Internet research regarding newborn screening and mitochondrial disease. Back then we had recently been told by doctors that this was the genetic condition they thought our daughter may have. So I was looking … Continue reading →

Posted in Advocacy, Genetics, Medical | Tagged advocacy, consumer advocacy, emergency preparedness, genetics, medical home, mountain states genetics regional collaborative, mountainstatesgenetics.org, MSGRCC.org | Leave a comment

Texas Born: Newborn Screening in the Lone Star State~ Krabbe Disease and PKU

Posted on September 24, 2012 by Empowered Advocacy

This is an “interview” with Bill Morris. Bill and I met as part of the Baby’s First Test Task Force. Bill and his family lives in Central Texas and Bill serves as the Newborn Screening Advisory Committee Chairperson for Texas. I … Continue reading →

Posted in Advocacy, Genetics, Medical, Newborn Screening, Texas Born | Tagged genetics, heel prick, krabbe disease, metabolic, newborn screening, pku, pku test, texas | 1 Comment

What I learned about Newborn Screening at SACHDNC…

Posted on May 20, 2012 by Empowered Advocacy

I learned… 1. that my fellow members of the Baby’s First Test Task Force are incredibly passionate about newborn screening and amazing individuals who are already doing things to help others in their communities. Click on their names to learn … Continue reading →