Alpha-1 Antitrypsin Deficiency—Alpha-1, for short—is a genetic disorder that can cause serious lung disease and, more rarely, liver disease. About 100,000 people in the United States have Alpha-1.

Alpha-1 is often misdiagnosed and can go untreated for years, existing therapies are invasive and time consuming, and the disease can place a huge burden on individuals and families. But many people with Alpha-1 have decided to fight back. They share their struggles and strategies with one another and, in defiance of the disease, they call themselves “Alphas.”

Working with medical care providers and researchers at Boston University, Alphas and their families are leading efforts to achieve the ultimate goal: Finding a cure.

The Alpha-1 Center at Boston University School of Medicine is working to lessen the effects of, and eventually cure, a dangerous disease that is often undiagnosed.

Alpha-1 occurs when there is a shortage of the blood protein alpha-1 antitrypsin, which is produced by the liver. The main function of this protein is to protect the lungs from infection and irritants, so individuals with Alpha-1 are highly vulnerable to airborne pollutants, like cigarette smoke. If the abnormal protein builds up in the liver, it results in liver disease.

People who have Alpha-1 have received two defective Alpha-1 genes—one from their mother and one from their father—and their children are at increased risk.

The principal treatment for Alpha-1 is a lifelong weekly infusion of the missing protein, collected from the blood of healthy individuals. For Alpha-1 patients with lung disease, the treatment helps to slow their decline, however, it does not undo previous damage, which is often substantial. The average time between the onset of symptoms and diagnosis is seven years.

Research and patient care connected

Boston University Medical School’s Alpha-1 Center takes a comprehensive approach to fighting the disease, embracing both research and patient care. The Center offers a multidisciplinary approach to Alpha-1 care, ranging from smoking cessation to psychological and genetic counseling, in addition to augmentation therapy. Patients also participate in support groups led by other patients who help to combat the psychological toll Alpha-1 can take.

Patients and their families may also take part in research at the Alpha-1 Center. Many participate in studies and clinical trials. They consult with researchers and offer insights.

On the frontier of scientific discovery

Since Alpha-1 was identified in 1963, scientists have been analyzing the way it develops, exploring its mechanisms, and searching for ways to diagnose, treat, and cure it. Boston University School of Medicine and its world-renowned pulmonary section have been involved in Alpha-1 treatment and research almost from the beginning.

Gordon Snider, a pioneering researcher in emphysema, founded the School of Medicine’s Pulmonary Research Center in 1982, setting the stage for a series of important investigations into Alpha-1. In 2010, a pair of young researchers and practicing physicians at the Pulmonary Center, Andrew Wilson and Darrell Kotton, received a pilot grant from the Alpha-1 Foundation to investigate treatments. Both Kotton and Wilson are experts in the emerging fields of induced pluripotent stem cells, tissue engineering, and gene therapy.

“The fact that this disease is caused by a single gene defect was tantalizing to us as researchers,” Kotton says. “In theory, it should be easy to correct, but in reality, it has proven extremely difficult.”

Sharing findings with the world

The Alpha-1 Center at Boston University School of Medicine is affiliated with the medical school’s Center for Regenerative Medicine, a collaboration of more than 50 scientists from the medical school and other schools and departments across the University and Boston Medical Center. Dr. Kotton co-directs both the Alpha-1 Center and the Center for Regenerative Medicine.

The Center for Regenerative Medicine has done groundbreaking work with induced pluripotent stem cells. These are adult cells that have been genetically reprogrammed to function like embryonic stem cells. These cells can then be used to recreate the disease in a dish, allowing the investigators to study how it functions and test new potential treatments in a patient’s own cells. Three of the stem cell lines that have been developed at the Center are from patients with Alpha-1.

Another promising line of investigation at the Center involves gene therapy. Scientists are trying to find ways to manipulate cells taken from Alpha-1 patients, correcting the genetic defect that causes the disease. The goal is to implant these cells back into the patient.

Wilson believes genetic manipulation ultimately will lead to a cure. “We don’t know how long it’s going to take,” he says. “What looks simple on paper often turns out to be technically very difficult. On the other hand, there could be scientific advances no one anticipates today.”

Supporting our mission

Boston University School of Medicine’s Alpha-1 Center is a world leader in treatment and care of Alpha-1 patients. Research at the Center is bringing us closer to a cure.

We need your help to continue this effort. While the Alpha-1 Center receives government and foundation grants, it depends on private philanthropy to conduct some of its most important research.

Private donations support our open source approach of sharing our discoveries, as well as our lines of Alpha-1 stem cells. Philanthropic support allows the Center to pursue more speculative projects, which might not meet the requirements of conservative funders, but which hold the promise of great advances. Private donations also allow the Center to hire faculty researchers and to recruit more graduate students and post-doctoral fellows.

With your help, we can conquer Alpha-1.

Sample giving opportunities

  • Create and name an endowed professorship for the faculty of the program: $1.25 million for an assistant professor, $2.5 million for a full professor
  • Endow a research fund: $100,000
  • Endow a scholarship for a BUSM student: $100,000
  • Endow a postdoctoral fellowship: $100,000
  • Create a current-use fellowship award: $10,000
  • Provide unrestricted support as a member of the BUSM Dean’s Club: $1,500 and above