We all benefit from the Research of our Scientists

In the old black and white movies we use to see the crazy scientist pouring smoking liquid into a cauldron making some miraculous potion.  For some people that is the only kind of “scientist” they know.  Actually scientists look just like everyone else and in the past 125 years have made overwhelming discoveries.  Since the days of black and white movies, scientists and engineers have dramatically increased life expectancy in the US.  This is due to major advancements in medical technology, improved sanitation, better nutrition, decreased infant mortality rates and overall improved living standards.  The most dramatic improvement is a result of reductions in deaths from infectious diseases (measles as an example) and child mortality.

Children are born every day with genetic conditions that can go undetected for years or possibly never detected.  Your genes act as sentences in the instruction manual that tell the body how to function.  Genes guide the production of molecules called proteins that are necessary for creating the body’s cells, tissue, and organs, as well as for maintaining their function and operation.

Since the second half of the last century we now know about incredible number of genetic disorders.  Some of these disorders can be treated and if discovered soon enough treatment can prevent complications of growth and development including severe intellectual disability, seizures, blindness and sudden or early death.

In the 1960’s, only 80 years or so, there was the beginning of newborn screening for a metabolic disease, PKU (phenylketonuria). This condition is when the body cannot break down an amino acid called phenylalanine from a protein in food.  This amino acid is needed for brain development.  If the infant is placed on a special diet avoiding this protein they can have normal intellect and normal functioning.

There is now newborn screening in all states in the US.  They vary in number but all screen for over 20 conditions.  Core conditions are listed on the Recommended Uniform Screening list and secondary are those found while screening for the core conditions.  At present Texas tests for 57 conditions, including 30 core conditions and 24 secondary conditions.  Newborns are also tested for hearing and critical congenital heart disease.  At present this test involves a piece of absorbent paper and with a few drops of blood.  These tests are done at 24-48 hours after birth and then at 7-14 days after birth.

There are several studies investigating whether using whole genome sequencing (WGS) could be used as opportunity for early identification and disease prevention.  Two major studies one in England and another in New York are looking at over 200 treatable diseases where early detection could impact health care.  These studies seem to be discovering that the use of whole genomic screening may become the dominant method for newborn screening.

All of us, especially our children, will benefit from the ongoing research of our scientists.