Just weeks after the Orland Bethel Musculoskeletal Research Center (BMRC) received an $18.5 million gift to create a first-of-its-kind biobank, it has started gathering specimens. The first tissue was collected on Oct. 30, and by mid-November the BMRC Orthopaedic BioBank had 25 patients enrolled, with around 100 individual biospecimens stored.
Christopher Gonzalez Jr., research fellow with the BMRC and biospecimen facilitator, said the first tissue sample was collected from a joint replacement surgery at UPMC Shadyside done by Malcom Dombrowski, one of the research center’s core investigators.
Rather than discarding diseased tissue removed during surgery as medical waste, “we're going to bank that tissue to study it, analyze its molecular components, and identify unique biological markers potentially linked to degenerative or chronic conditions,” Gonzalez said.
He clarified that “it may not directly benefit the patient, but it could help their children, grandchildren or future generations. By contributing their biological material to this bank, we can conduct advanced molecular analyses to uncover specific risk factors for chronic diseases and identify potential therapeutic targets for future treatments.”
Joon Lee, the center’s founding director, said that in addition to tissue specimens, researchers are also collecting blood samples to be able to analyze the patients’ clinical outcome to direct treatment. That should enable musculoskeletal treatments to be tailored to specific patients’ needs, much as cancer research is already doing.
“We have demographic information—race, gender, ethnicity, age—along with their disease, pathology, and their treatment history,” Lee said. “But we also aim to collect data on their genomics and proteomics, metabolite history, RNA, DNA, and other biomarkers, to build a comprehensive bioprofile.”
In the past, he said, to get a genetic profile for a patient, “it cost thousands of dollars per patient and many, many months to complete, but now you can do it much cheaper, and it'll take you just days to weeks to get that information.”
Gonzalez explained, “In the future, we might be able to say, ‘This muscle sample came from a patient with degenerative disc disease. Here’s their preoperative and postoperative imaging, their clinical data—including medical conditions, demographics like age and sex—and everything else.’ Ideally, it will all be linked in one server, where selecting a particular disease or problem provides access to their tissue-specific genetics, clinical data and imaging. This integrated system would enable better collaboration and help design stronger research studies.”
Lee noted that it has been difficult to get funding for this kind of research in the musculoskeletal world because musculoskeletal diseases like arthritis and osteoporosis were regarded as part of aging.
“That attitude has been changing as people are living longer and they're living in pain, they want to have more quality life than just longevity,” Lee said.
Lee is especially interested in studying osteoporosis.
“There's no data bank or biospecimen repository that I know of that includes bone tissue collected from patients with detailed intraoperative cataloging of their bone quality, their DEXA scan”— a dual X-ray absorptiometry scan, which measures bone density— “and patient-specific data like genetics, proteomics and transcriptomics. That's one area that I think will create a lot of collaboration between different departments including orthopaedics, medical doctors, endocrinologists, etc. I'm excited about such topics, and the questions that this kind of biobank could generate.”
With the gift that created the BioBank, the Orland Bethel Family Foundation has committed more than $45 million to Pitt, including $25 million last year to create the BMRC and a previous $2 million gift to create the Orland Bethel Professorship in Spine Surgery.
“It's really fortunate for us, in the Department of Orthopaedics, for myself and others in the School of Medicine to have a family that understands our goals and is ready to work so closely with us and is very generous,” Lee said. “They've never come to us and said, ‘Hey, we're going to give you this money, but I want you to work on X, Y and Z topics,’ and never restricted me personally. They've come to me and said, ‘Hey, we would like to help, what are your ideas?’
And they've given me the freedom to be able to come up with programmatic ideas like this, and they've been very enthusiastic about supporting that and giving us the full trust in this domain. That opportunity, and having a relationship with a family like this, is very, very rare. And I think that the School of Medicine should be very thankful that they have so much enthusiasm for us to take this on.”