研究人员识别病人的罕见遗传疾病,标志着医学科学的首次。 Researchers identify rare genetic disease in patient, marking a first in medical science.

马萨诸塞州综合医院研究人员在病人Rithvik Kapali发现了一种罕见的非编码遗传血管疾病,这是首次发现此类疾病。 Massachusetts General Hospital researchers have identified a rare genetic non-coding vascular disease in patient Rithvik Kapali, marking the first discovery of its kind. Rithvik曾面临许多健康挑战,是这种特定微小RNA突变的唯一已知的人。 Rithvik, who has faced numerous health challenges, is the only known person with this specific micro RNA mutation. 这一突破可能导致对类似的稀有疾病进行新的治疗,并增进我们对人类遗传学的了解。 This breakthrough could lead to new treatments for similar rare diseases and enhances our understanding of human genetics.