罕见病是一类慢性严重性疾病，半数罕见病患者在出生时或者儿童期即可发病，病情通常进展迅速，死亡率高。目前我国对罕见病认知严重不足，易误诊漏诊，部分罕见病无药可医，给患者诊治带来巨大阻碍。

推进儿童罕见病诊疗研究的发展，是儿童健康事业发展的重要内容之一，对于保障和改善民生、提高全民健康素质、实现中华民族伟大复兴的中国梦具有重要意义。为此，Science China Life Sciences（《中国科学：生命科学》英文版）特邀相关领域专家撰文，共同聚焦儿童罕见病，深入思考、探讨儿童罕见病的发生发展、诊断、治疗等疑难问题，为攻破儿童罕见病进行有益的探索。文章集成“Frontiers in rare diseases”专刊（“儿童罕见病专刊”），于2017年7月正式出版。

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EDITORIAL

The challenge and promise of rare disease diagnosis in China

REVIEW
Towards efficiency in rare disease research: what is distinctive and important?

RESEARCH PAPER

►Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome

►AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade0–3)

►Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations

►DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma

►Detection of FOXO1 break-apart status byfluorescence in situ hybridization in atypical alveolar rhabdomyosarcoma

►Correlation between BRAF^V600E mutation and clinicopathological features in pediatric papillary thyroid carcinoma

►Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome

►The clinical and genetic characteristics in children with mitochondrial disease in China

►Gene mutations and clinical phenotypes in Chinese children with Blau syndrome

►Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex

LETTER TO THE EDITOR

►Berry syndrome: a rare cardiac malformation with extra-cardiac findings

►Detection of mycobacterial and viral DNA in Kikuchi-Fujimoto disease: an analysis of 153 Chinese pediatric cases

►Analysis of diagnosis and treatment of lipoblastomatosis

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