Noteworthy
- National Birth Defects Prevention Month (National Birth Defects Prevention Network)
- Important Information about Preventing Birth Defects (National Birth Defects Prevention Network) (PDF)
- Birth Defects and Other Health Conditions (March of Dimes)
- Birth Defects (MedlinePlus)
- Birth Defects (Centers for Disease Control and Prevention)
- Condition: Down syndrome (Genetics Home Reference)
- Condition: cystic fibrosis (Genetics Home Reference)
- Condition: spina bifida (Genetics Home Reference)
National Birth Defects Prevention Month is observed in January to promote prenatal health and decrease the risk of preventable birth defects.
A birth defect is an abnormality in the appearance, structure, or function of a body part that is present at birth. It can be outwardly visible, an internal abnormality, or a chemical imbalance. A birth defect can be a single abnormality affecting one body part or multiple abnormalities affecting many parts of the body. The Centers for Disease Control and Prevention (CDC) reports that in the United States, approximately 120,000 babies are born with a birth defect each year.
Some birth defects are preventable and others are not. Birth defects that cannot be prevented may be associated with genetic conditions, such as Down syndrome and cystic fibrosis, and are caused by changes in DNA. Other birth defects that are typically not preventable are caused by abnormalities in the womb, such as reduced amniotic fluid or tears in the tissues that surround and support the fetus.
Birth defects that are often preventable are caused by environmental factors, such as poor nutrition, infections, or alcohol use. A shortage (deficiency) of folate (vitamin B9) in a woman's diet early in pregnancy can lead to neural tube defects, such as spina bifida, in which the spinal column or spinal cord develops abnormally. A serious infection during pregnancy, such as rubella (German measles), can result in the fetus developing health problems that affect the eyes, ears, or heart. Alcohol use during pregnancy can cause the baby to be born with a group of health problems collectively known as fetal alcohol syndrome. This birth defect includes intellectual disability, irritability, hyperactivity, poor coordination, and characteristic facial features.
National Birth Defects Prevention Month is a time to highlight the steps that individuals who are planning a pregnancy can take to reduce the risk of birth defects. Additionally, it is an opportunity to support families with affected children and advance research and treatment.
- Watson and Crick Nature Article (Profiles in Science) (PDF)
- The Nobel Prize in Physiology or Medicine 1962: Award Ceremony Speech (Nobelprize.org)
- The Double Helix and The Nobel Prize: James Watson (Cold Spring Harbor Laboratory)
- The Francis Crick Papers (Profiles in Science)
- Famous King's People: Maurice Wilkins and Rosalind Franklin (King's College London)
- What is DNA? (Genetics Home Reference)
On December 10, 1962, the Nobel Prize in Physiology or Medicine was awarded to Francis Crick, James Watson, and Maurice Wilkins for their roles in discovering the double helix structure of DNA.
Francis Crick and James Watson surmised that DNA is composed of four molecules called bases: adenine, thymine, guanine, and cytosine. They determined that these bases consistently formed pairs (adenine with thymine, and guanine with cytosine) and that these base pairs were arranged in sequence along a phosphate backbone, but they did not know what the DNA structure looked like when all these bases were paired.
To figure out the structure of DNA, Crick and Watson built models of DNA, while Maurice Wilkins and his colleague Rosalind Franklin used a technology called X-ray crystallography to take pictures of actual DNA molecules with a microscope. These X-ray pictures provided clues of DNA's double helical structure. Crick and Watson saw the work that Wilkins and Franklin had done, specifically an X-ray crystallography picture of DNA known as photograph 51, and they realized the true double helix structure of DNA.
In April 1953, Crick and Watson published their findings in the journal Nature, stating that the DNA "structure has novel features which are of considerable biological interest." The discovery of the double helix structure of DNA allowed scientists to visualize how genetic information is stored, copied, and transmitted to the next generation. This discovery allowed for further insights into human genetics and cell biology, such as how proteins are produced from genes and the process by which DNA copies (replicates) itself during cell division. It also opened the door for advancements in biotechnology, including sequencing of the entire human genome.
Although Rosalind Franklin worked alongside Maurice Wilkins during the discovery of the double helix structure of DNA, she was not awarded the Prize. She died in 1958, four years before the award was given, and the Nobel Prize rules state that only living persons can be nominated.