michele coffill的故事/ kendra stanley-mills的照片

对于患有癫痫的人来说，它’s often a trial and error process through several of the 30-some antiepileptic drugs to get to a medication that works.

想象一下, 虽然, a situation where physicians and health care teams could explore a patient's dashboard — uploaded using artificial intelligence tools — and then prescribe personalized medication without trial and error. 如果同样的人工智能工具可以帮助患有罕见疾病的患者呢?

扎卡里·德布琳, 计算机助理教授, and a team of student researchers are exploring how to develop and deliver artificial intelligence tools to help clinicians at Corewell Health and Helen DeVos Children's Hospital who treat patients with rare diseases. 

Dr. 迦勒Bupp, 谁是Corewell Health医学遗传学和基因组学部门的负责人, said 德布琳's research could be invaluable in a medical field where 1 in 10 Americans has a rare disease yet 95% of patients have no treatment.

”我们现在用煤气做饭，” Bupp说.

德布鲁因加入了格兰德山谷’2022年的美国教师, after working for nearly a decade at Van Andel Institute (VAI) as a post-doctoral fellow and adjunct faculty member. 德布琳’s work at VAI was groundbreaking in helping researchers store and analyze massive sets of biomedical data. It also provided a foundation for his work at 博天堂官方 centered around building generative AI tools for clinicians and researchers.

”We’我们正努力为临床实践开发基因组智能，” 德布琳说. ”This will put AI tools that understand not the English language like ChatGTP but the language of genetic regulation and genetic variation in the hands of clinicians so they can ask questions and get answers that help them improve patient care.”

Bupp说 one of the many challenges of working with rare disease patients is the lack of comparisons to other patients. 与德布琳’基因组智能工具, Bupp说 he and his team are uncovering layers of understanding with patients.

For example, Bupp explained one ultra-rare condition that affects only 16 people worldwide. ”我们可以通过改变我们知道有效的药物的用途来治疗少数人. 和扎克一起’S组，我们已经超越了化学反应 ’为什么这个方法有效??’” 他说.

布普说，遗传学作为一个领域过去是非常活跃的. 随着人工智能的发展， ”We are shifting to being more proactive and Zach and his team are helping us to do that. 他们’他们没有给我们路线图，但他们让我们坐在驾驶座上，” 他说. 

三个组织伙伴, 博天堂官方, Corewell Health和VAI, have provided support and funding to create AI models that can provide collective insight into rare diseases.

他们首先关注的是儿童癫痫，这是德布鲁因非常了解的一个课题. 他的儿子安德鲁在出生时就被诊断出患有这种疾病. 德布琳 explained to an audience during a Grand Rapids Tech Week event that 安德鲁 underwent three different drug therapies, 这对癫痫患者来说并不罕见. 德布鲁因说，安德鲁现在8岁，健康快乐. 

在德布琳和他的学生正在构建的人工智能模型中, results from a simple blood draw would be uploaded to an app that generates an AI cell atlas that can be explored through a dashboard for physicians and clinicians to prescribe personalized medication to treat, 例如, 安德鲁’年代癫痫. 

”如果我们能学习一个能理解遗传学语言的模型, that model would be applicable not only to pediatric epilepsy but also rare disease diagnosis,” 德布琳说.