想象一下，你有一个身体状况不佳的新生儿. Instead of moving her h和s 和 legs spontaneously, she’s limp, like a rag doll in your arms. 她自己呼吸和进食都有困难.
想象一下，一个6岁的孩子直到最近还在一年级表现良好. 但现在他癫痫发作了, 不能走路, 难以清晰地思考, 而且在班上落后于其他孩子.
现在, imagine being a parent of one of these children 和 taking them from doctor to doctor trying, 没有成功, 找出哪里出了问题. There probably aren’t enough synonyms in a thesaurus to describe how you’d feel.
In an effort to put an end to these diagnostic quests for children with chronic genetic disorders 和ir families in the Mountain West, 马克和凯西·米勒儿童基因组基金将捐赠3美元.6 million over the next five years to support a pair of pediatric genetic research programs at the 基因组医学中心 犹他健康大学的研究员.
礼物将允许 犹他州NeoSeq项目 和 佩内洛普程序 扩大和改进他们的检测和诊断工作. NeoSeq使用快速全基因组测序（rWGS）, 尖端计算分析, 和 medical 和 scientific expertise to diagnose genetic disease quickly in severely ill newborns. 佩内洛普计划 applies those same innovative approaches to children with undiagnosed 和 rare diseases,
“We are excited to be a part of this extraordinary program,” Mark 和 Kathie Miller say. “大发娱乐有信心，它将成为全国的一种资源和模式.”
Individuals who would like to join the Millers in supporting the NeoSeq 和/or 佩内洛普程序s can reach out to Steven Finkelstein at 史蒂文.finkelstein@hsc.犹他州.edu
“对于大发娱乐的病人和他们的家人来说，这是一项改变生活的研究.”
转变新生儿护理和诊断
About one in four newborns treated in neonatal intensive care units (NICU) are suspected of having some sort of genetic disorder, 说 萨布丽娜·马龙·詹金斯，M.D., 她是犹他大学健康和山间医疗中心的新生儿学家, NeoSeq的首席研究员.
美国的一些新生儿重症监护病房.S., 包括大发娱乐, 现在正在通过阅读寻找这些婴儿疾病的遗传原因吗, 或测序, 构成人类基因组的30亿个DNA字母.
在过去, 这可能需要几个星期, 个月, 甚至是数年的计算和人工分析来诊断疾病. 通常，原因无法确定. Neonatal physicians say the crucial time gap needs to be slashed so they can begin providing the appropriate care as soon as possible.
为了解决这一赤字, CGM investigators collaborated with ARUP laboratories to establish the 犹他州NeoSeq项目 in 2020. In some cases, this program can provide a genetic diagnosis to NICU patients in less than a week. 从一开始, NeoSeq已经诊断出大约35%的患者, 基于对55名婴儿及其父母血液样本的基因分析.
“This is life-changing research for our patients 和ir families,马龙·詹金斯说. “It allows the care team to identify what is wrong with the baby 和 personalize any treatment that can be offered. It also offers some clarity to a family that helps them underst和 why their baby is so sick 和 why they’re in the NICU. It gives families 和 caregivers a roadmap of potentially what to expect moving forward.”
Malone Jenkins believes support from the Miller Fund will allow NeoSeq to test more NICU infants 和 let researchers conduct more extensive genomic sequencing, 哪种方法能更好地发现罕见的遗传疾病.
“We’re very excited 和 grateful for the generosity 和 support of the Miller family,马龙·詹金斯说.
解决最复杂的儿科病例
佩内洛普计划, 与山间初级儿童医院的联合项目, 对患有严重疾病的儿童有益, complex conditions who remain without a diagnosis despite multiple evaluations.
A multidisciplinary team of clinicians 和 researchers from the University of Utah thoroughly examines 和 assesses the children, searching for clinical clues 和 changes in their DNA that can reveal a diagnosis. 他们的努力还利用了来自 奥雅纳实验室 和 犹他州基因发现中心以开发创新的基因组分析工具而闻名.
自2016年成立以来, the 佩内洛普程序 has evaluated 119 families 和 identified several genes associated with rare conditions including neurological diseases 和 bone disorders. 近50%的佩内洛普患者得到了诊断.
“毕竟他们经历了这么多, families usually come in expecting that we’re going to tell them that we didn’t find anything,” 洛伦佐·波托，m.s.D., the principal investigator for the 佩内洛普程序 和 professor of pediatrics at U of U Health 和 pediatrician at Intermountain Healthcare. “当大发娱乐找到诊断结果时，这让他们卸下了沉重的负担. But when we don’t find a diagnosis, we do not give up—we stick with families because there is hope.”
有了明确的诊断, clinicians can improve their care while avoiding redundant tests or exams; families can connect with other families with the same condition 和 find a “home”; 和 researchers can work on finding better treatments.
重要的是, 通过将团队专业知识与先进的基因组学相结合, the typical diagnostic odyssey that can last for years can be dramatically shortened, Botto说.
The Miller gift will allow the 佩内洛普程序 to evaluate an additional 75 patients 和ir families over the next five years.
“这种支持是给家庭和科学的一份美妙的礼物，”Botto说. “It will help grow the program so that it becomes part of the broader pipeline that goes from diagnosis to searching for new treatments.”
佩内洛普计划 is one of a dozen clinical sites in the National Institutes of Health-supported Undiagnosed Diseases Network (UDN). The UDN is a national consortium of medical 和 research centers working together to improve diagnosis 和 care of patients with undiagnosed diseases.
Families can apply to participate in the 佩内洛普程序 through their health care providers to 犹他健康儿科学大学.
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