Core Viewpoint - The National Health Commission has organized the development of diagnostic and treatment guidelines for 86 diseases, including achondroplasia, as part of the second batch of rare disease catalog [1] Group 1: Disease Overview - Achondroplasia (ACH) is a hereditary condition that results in disproportionate short stature [1] - Typical clinical manifestations include proximal shortening of long bones, macrocephaly, trident hands, and distinctive facial features such as frontal prominence, midface hypoplasia, and flattened nasal bridge [1] - Clinical diagnosis primarily relies on the presentation of the disease and imaging characteristics [1]

Core Viewpoint - The National Health Commission of China has released the "Guidelines for the Diagnosis and Treatment of 86 Rare Diseases (2025 Edition)" to enhance the standardization of rare disease treatment and ensure medical quality and safety [1][2]. Group 1: Rare Disease Guidelines - The guidelines provide clear instructions on clinical manifestations, diagnostic methods, and medical interventions for the 86 rare diseases included in the second batch of the rare disease directory [1][2]. - The guidelines reflect the era's demand for comprehensive health care throughout an individual's life cycle, emphasizing the importance of early screening and treatment for rare diseases [1]. Group 2: Specific Rare Diseases - Achondroplasia (ACH) is highlighted as a genetic disorder leading to disproportionate short stature, with typical clinical features including shortened proximal long bones, macrocephaly, and distinctive facial characteristics [2]. - Currently, there is only one approved treatment for ACH abroad, while no specific drug has been approved in China, and treatment mainly focuses on symptom management and complications [2]. Group 3: Government Initiatives and Statistics - The Chinese government has shown increasing attention to rare diseases, with the first batch of rare disease directory published in 2018, which included 121 diseases and corresponding treatment guidelines [2]. - Approximately 20 million people in China are affected by rare diseases, with over 200,000 new patients each year [2]. - As of January 1, 2025, the new national medical insurance drug list will include 13 new medications for rare diseases, significantly reducing the financial burden on patients [2].

Core Viewpoint - Recently, Tongji University announced multiple government procurement intentions, with a total budget of 127 million yuan for 16 items of instrument and equipment procurement [2]. Group 1: Project Overview - The project titled "Central Special Lottery Public Welfare Fund Support for Rare Disease Diagnosis and Treatment Capability Improvement Project (Phase VI)" has a budget of 480 million yuan [4][6]. - The procurement includes various genetic testing services, with specific budget allocations for different testing types [6]. Group 2: Procurement Details - The procurement documents can be obtained from April 30, 2025, to May 12, 2025, with a document price of 400 yuan [9][10]. - The deadline for submitting bids is May 23, 2025, at 09:00 AM (Beijing time) [10]. Group 3: Eligibility Requirements - Bidders must possess a valid medical institution practice license and cover the diagnostic subjects of "medical testing" and "clinical cell molecular genetics" [8]. - Suppliers listed as untrustworthy on the "Credit China" website are prohibited from participating in this project [13].