Genomics

• About 1% of all cases of chronic obstructive pulmonary disease (COPD) are attributable to alpha-1 antitrypsin deficiency.
• Approximately 15% of people who have alpha-1 antitrypsin disease have been diagnosed.

• Alpha-1 antitrypsin deficiency is inherited as an autosomal-codominant condition.

• Blood tests are available to help clinicians distinguish COPD due to alpha-1 antitrypsin deficiency from COPD due to other causes.

• Telomerase activity is associated with successful DNA replication.
• Studies link psychological stress, mental disorders, lifestyle factors, and interventions with variations in telomerase activity.
• There are many potential molecular mechanisms underlying the changes in telomerase activity affected by psychological stress, mental disorders, and lifestyle factors.

This 12-year-old patient has a rare genetic disorder called cherubism. Patients present with bilateral swelling of the jaw caused by the replacement of maxillary and mandibular bone with fibrous tissue and bony cysts.

Surgery can be performed, though it is recommended to delay surgical intervention until after puberty as spontaneous regression may occur.

For more information about this image and others, visit Figure 1.

• Genomics offers the promise of personalized medicine in oncology.
• In the ideal clinical situation, the chemical and genetic weaknesses of a patient’s disease would be revealed and the optimal treatment would be applied.
• In some cases, however, the genomic data can confuse or mislead the clinician.
• Today, questions remain and all genomic data must be corroborated.