72017Jun
Cystic Fibrosis Awareness & Carrier Screening

Cystic Fibrosis Awareness & Carrier Screening

National Cystic Fibrosis Awareness Month May was National Cystic Fibrosis Awareness Month. Cystic Fibrosis (CF) is a genetic disorder that primarily affects the lungs. Mutations in the “cystic fibrosis transmembrane conductance regulator” (CFTR) gene cause individuals with CF to produce thick, sticky mucus that can clog their lungs, making breathing difficult. This abnormally sticky mucus…

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252017Apr
National DNA Day

National DNA Day

National DNA Day is a day designated by the National Human Genome Research Institute [https://www.genome.gov/] to commemorate the completion of the Human Genome Project in April 2003 and the discovery of DNA’s double helix in 1953. Dr. James Watson and Dr. Francis Crick, working alongside Dr. Rosalind Franklin, were awarded the Nobel Prize in Physiology…

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282017Feb
10th Annual Rare Disease Day: With Research the Possibilities are Limitless

10th Annual Rare Disease Day: With Research the Possibilities are Limitless

February 28, 2017 is the 10th Annual Rare Disease Day. [http://www.rarediseaseday.org] Rare Disease Day was originally established in 2008 by EURORDIS, [http://www.eurordis.org/] the organization representing rare disease patients in Europe and now more than 80 different nations participate. In the U.S., the National Organization for Rare Disorders (NORD), [https://rarediseases.org] an non-profit, patient advocacy organization dedicated…

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252017Jan
DNA Gene Sequencing and Newborn Screening – Where are We and Where Are We Going?

DNA Gene Sequencing and Newborn Screening – Where are We and Where Are We Going?

Where does DNA testing fit into newborn screening? In order to answer this question, it is important to examine some of the difficulties faced by current newborn screening programs. Historically, newborn screening has been performed by biochemical analysis. Certain analytes (chemicals or substances) in the body are analyzed and measured to determine if the correct…

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162016Dec
NBS – It’s very easy to forget.

NBS – It’s very easy to forget.

If you were to ask any physician trained in the US in the last thirty years about phenylketonuria (PKU) they would probably tell you that PKU is a treatable inherited disease screened for at birth. This is true in this country today. But the reality is that the treatment for PKU goes hand in hand…

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212016Nov
Know Your Family Health History – But Is It Enough?

Know Your Family Health History – But Is It Enough?

In recognition of the importance of family history, the Surgeon General and the U.S. Department of Health and Human Services, have launched a public health campaign to encourage people to learn more about their family health history. Thanksgiving (November 24th) is National Family History day because it is a day that families come together and…

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142016Nov
Online Sources for Genetic Health Information

Online Sources for Genetic Health Information

Advances in genetic sequencing technology has led to an exponential growth in DNA testing options for patients. But has access to genetic health information kept pace? With a little help from the Internet and some government health agencies, the answer is yes. While there are a lot of websites dedicated to teaching genetics – all…

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272016Apr
Baby Genes, Inc. – Overview and Applications

Baby Genes, Inc. – Overview and Applications

Baby Genes, Inc. operates a CLIA-certified, diagnostic laboratory in Golden, CO using Next-Generation Sequencing (NGS). The mission at Baby Genes is to provide affordable and accessible genetic testing to those who need it and to provide health care practitioners with faster and more detailed results thereby enabling more timely intervention, if necessary. Baby Genes’ test…

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52016Apr
Gaucher Disease

Gaucher Disease

Understanding each condition covered within the Baby Genes panel helps our customers recognize the importance of early detection and diagnostics through genetic testing. Gaucher disease is not included in most states’ newborn screening programs, but it is essential to detect this condition quickly to allow for early intervention and treatment advancements. What is Gaucher Disease?…

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52015Nov
Baby Genes in The NICU

Baby Genes in The NICU

As we enter into Prematurity Awareness month, we would like to take the opportunity to discuss preterm births and the role of Baby Genes within the NICU. Let’s begin with a few prematurity statistics: 1 in 10 infants in the United States are premature Approximately 380,000 babies are born prematurely in the United States each…

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