Tag Archives: genetics

A Consumer’s Reflections on #ACMGmtg 2014

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 , , , , , , , , , , , , | 1 Comment

Snips about SNPs ~ MTHFR

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 , , , , , , , , , , , , , , , | 6 Comments

Mountains States Genetics Regional Collaborative Annual Meeting 2012-2013

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

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

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 , , , , , , , | 1 Comment

What I learned about Newborn Screening at SACHDNC…

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

Posted in Advocacy, Genetics, Medical, Mitochondrial Disease, Newborn Screening | Tagged , , , , , , , | 5 Comments