Rare Disease Research

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If not me, then who?

Sara Buckallew • 2/28/18

If not me, then who?

If not me, then who?

This simple yet powerful adage is what fuels the research of Craig Lammert, MD, assistant professor of medicine and primary investigator of the Autoimmune Hepatitis Research Network (AHRN) at Indiana University School of Medicine.

Autoimmune hepatitis (AIH) is an inflammatory disease of the liver, which can lead to cirrhosis, fibrosis, increased risk of cancer and death. While the majority of cases occur in women, AIH manifests at any age and in people of any ethnic background. There is no clear cause and no known cure. Projected to affect only 1 in 100,000 people, AIH is considered a rare disease.

But its rarity does not bring solace to those who suffer. A lack of awareness poses serious threats of delay to the diagnosis of AIH; a delayed diagnosis can leave patients suffering without foreseeable answers or proper treatment. Lack of treatment or severe damage may not only lead to additional pain and illness, but to joining the long list of many who anxiously await a liver transplant. Building awareness and understanding to reduce suffering and save lives is exactly what makes research so important.

“We could not do this type of research without a large center like Indiana University. We need IU and its function – we want this to be the epicenter of AIH research in North America, and I think we’ve made tremendous strides to do so,” says Dr. Lammert, who is also executive director of the Autoimmune Hepatitis Association in Indianapolis.

Dr. Lammert’s translational research at IU School of Medicine is largely focused on uncovering the genetic and environmental factors that contribute to the development of the disease. The hope is to uncover the genetic principles of the condition to achieve earlier diagnosis and more effective treatment.

“In diseases that are rare, researchers often struggle to find enough patients to create meaningful research,” says Dr. Lammert. “We’ve published on our methodology of using Facebook and social media to recruit patients here at IU. Our goal is to understand pathogenesis — we think if we understand this better, we can provide better treatment to patients.”

The social media method is a novel way to recruit patients and gather data. Using this technique, Dr. Lammert and the AHRN have collected data through saliva samples and environmental surveys from more than 100 AIH patients across the country.

But while contributing to important data that may help broaden medical understanding of the disease, the social network has also built a strong community of patient support, education and empowerment. Dr. Lammert says that his experience with the disease, and more importantly with the people who are affected, have only solidified his sense of urgency.

“If we don’t take the bridle of this disease, we will continue to delay the understanding of it for generations to come,” he says. “If there isn’t any research, how will we ever get answers? People need a conduit; we provide that conduit, and IU has been the perfect supportive environment for that.”

The research performed by Dr. Lammert and the AHRN at IU School of Medicine is working to find answers and save lives for those suffering from AIH.

If not us, then who?

Author

Sara Buckallew

Sara Buckallew works in the IU School of Medicine Dean's Office of Strategic Communication. As Communications Coordinator, Sara supports internal and external communication needs for the Herman B Wells Center for Pediatric Research and the Center for Diabetes and Metabolic Diseases.