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The diagnosis and treatment of rare diseases have long been significant challenges in the medical practice. With the rapid development of genomics and genetics, medical genetics has been widely applied in the diagnosis and treatment of rare diseases. Systematic medical genetics training courses are essential for enhancing the professional level of clinicians in diagnosing and treating rare diseases. This paper aims to analyze the current status of medical genetics training, discuss the principles and methods of curriculum design, and propose strategies to optimize training effectiveness, in order to enhance their comprehensive capabilities in the diagnosis and treatment of rare diseases.

In the past few years, there have been many breakthroughs in the treatment of heart failure, especially in drug therapy. The classification of chronic heart failure and treatment methods for heart failure and its complications are also constantly updated. In order to apply these achievements to a better diagnosis and treatment of heart failure patients in China, Chinese Society of Cardiology, Chinese Medical Association, Chinese College of Cardiovascular Physician, Chinese Heart Failure Association of Chinese Medical Doctor Association, Editorial Board of Chinese Journal of Cardiology have jointly published the Chinese Guidelines for the Diagnosis and Treatment of Heart Failure 2024, which comprehensively updates the new consensus and evidence-based treatment in the field of heart failure. These contents are of great significance for guiding diagnosis and treatment of heart failure patients in clinical practice. This article, therefore, aims to interpret the main updated contents and key points to provide readers with a better understanding of its key information.

Objective This study aims to sort out the rare disease drugs in the China′s Second List of Rare Diseases, to provide reference for the management of rare disease drug treatment. Methods Up to December 31, 2023, based on the China′s Second List of Rare Diseases, we sorted out the drugs approved in China with the drug label, or approved by the U.S. Food and Drug Administration(FDA) and the European Medicines Agency (EMA) for the treatment of the above diseases, and developed the second batch of rare disease drug catalog in China. The accessibility, localization and coverage of the national medical insurance were also analyzed. Results From the point of view of diseases, a total of 37 diseases in the China′s Second List of Rare Diseases have drug indications approved in China, and 10 diseases have drugs listed by the U.S. FDA/EMA and approved in China, but for off-label use. From the point of view of drugs, there are 55 drug indications approved for the treatment of the China′s Second List of Rare Diseases, and 22 drugs listed in the U.S. FDA/EMA and approved in the China, but for off-label use. Among the above-mentioned drugs with domestic approved rare disease indications or approved numbers, 39 drugs have at least one domestic approval number for a dosage form, covering 30 rare diseases; 37 drugs used for at least one rare disease are included in the national medical insurance catalog and are covered by reimbursement, covering 29 rare diseases. Conclusions The list of rare disease drugs in the China′s Second List of Rare Diseases was established. The number of rare disease drugs and covered diseases approved by China and the U.S. FDA/EMA has increased, and the number of rare disease drugs and covered diseases that are localized and included in the medical insurance catalog has also continued to increase.

In the past few years, China has pushed forward the availability of diagnosis and treatment of rare diseases. However, only 5% of patients receive effective treatment in the world. In China, the difficulties in having access to drugs against rare disease is still one of the major problems in medical service and the main cause of patients complaints for " difficulties in getting treatment" and " difficulties in getting drugs". The availability of the medication for rare disease is a coordinating mechanism involving multiple such points in the chain as in research and development, production, circulation, usage, way of payment, technology innovation and so forth. It also relates to the actors in supply, demand, and policy decision-makers. The complexity is different from that of common drugs. This article provides a brief overview of the current status of availability policies of medication for rare diseases in China and in other countries, as well as the technology in drug development. In addition, the article points out the problems, challenges and expectations for future possibilities.

The establishment of the Department of Rare Diseases at Peking Union Medical College Hospital (PUMCH) is a landmark in the disciplinary development of the rare diseases. The establishment of the department will booster the prominence of the influence and leading position of the PUMCH in the field of rare diseases. In addition, the department is instrumental in the development of the hospital of high-quality. The department aims at delivery of better medical care for patients with rare diseases, the training of specialists in rare diseases, and avancement of the preventing and treating rare diseases in China.This paper preliminarily discusses the working basis, significance and discipline development plan of the department of rare diseases at PUMCH.

This article combs and summarizes the entire process of rare disease selection and priority theme determination, including the application and preliminary review of rare diseases, standardization of disease theme information, the evaluation methods of evidence sorting and disease selection for priority selection of disease themes, and other aspects of the content were analyzed in depth. It is expected to provide reference for the subsequent selection of rare diseases, improve the fairness, rationality and scientificity of rare disease selection, and further promote research and decision-making in China′s rare disease-related fields.

Professional competence is defined as the habitual and judicious use of communication, knowledge, technical skills, clinical reasoning, emotions, values, and reflection in daily clinical practice. At present, many studies focus on the application of professional competence to medical education and job evaluation in China. However, further theoretical and empirical research is still needed to facilitate Chinese medical education and physician career development in the future. This article reviews the assessment methods and dimensions of professional competence, as well as the research progress of professional competence in China, with the aim of providing reference for Chinese medical education and physician career development.

Although the incidence of rare diseases is extremely low, 6% to 8% of the global population are affected by more than 7000 rare diseases. Rare diseases guidelines are playing an increasingly important role as guiding documents in improving the health outcomes of patients with rare diseases. Therefore, we aim to systematically elaborate on the status quo, challenges and opportunities of rare disease guidelines at home and abroad, and put forward thoughts and suggestions on promoting the development of rare diseases guidelines in the future.

Familial hypercholesterolemia (FH) is a group of autosomal co-dominant genetic diseases mainly characterized by abnormal low-density lipoprotein related metabolism. It is one of the most common inherited diseases in children and one of the most serious lipid metabolism diseases which results in various life-threatening cardiovascular diseases and the complications. In recent years, the treatment protocols for FH have diversified thanks to the deeper understanding of the disease in China and abroad and the development of new lipid-lowering drugs. However, the current awareness and diagnosis rate of FH are very low. The treatment of the disease is much inadequate. This paper summarizes the clinical characteristics, diagnosis, screening strategy, and treatment of FH hoping to enhance the understanding and awareness of the disease in the society.

The onset of rare cardiovascular diseases is early and the mortality is high. The patients of the disease face a long time of hardship in diagnosis and a low treatment rate. As a result, it is urgent to improve the diagnosis and treatment level of rare diseases and to accelerate the selection and R&D of drugs of rare cardiovascular diseases. In recent years, with the rapid development of new technology and basic research, the diagnosis and treatment of rare cardiovascular diseases have made breakthroughs. The article summarizes the research progress in diagnosis and treatment of rare cardiovascular diseases and looks into the future of the research.

Hypertrophic cardiomyopathy (HCM) is cardiomyopathy with a clinical phenotype of cardiac hypertrophy. The etiology includes genetically defective encoding sarcomeres, congenital metabolic diseases such as lysosomal storage diseases, systemic amyloidosis such as transthyretin amyloidosis(ATTR), and Fabry disease. Previous therapies did not target the etiology and pathogenesis and therefore were less effective. In recent years, treatments targeting different mechanisms of myocardial hypertrophy have achieved good results. Mavacamten can reduce myocardial contractility by inhibiting ATP activity, thereby significantly improving left ventricular outflow tract(LVOT) obstruction, cardiac contractility, ventricular tension, and limitting myocardial damage. By inhibiting the dissociation of transthyretin(TTR) and subsequent formation and deposition of the amyloid fibril, tafamidis can reduce the mortality and morbidity of patients with transthyretin cardiac amyloidosis(ATTR-CA). Gene silencing and gene editing technology can reduce abnormal TTR levels. Synthesis of α-galactosidase A by gene recombination technology in vitro can effectively reduce left ventricular mass index(LVMi), improve cardiac function, reduce angina attacks and decrease mortality of Fabry disease.

Homozygous familial hypercholesterolemia (HoFH) is a rare and serious autosomal genetic metabolic disease. Patients without intervention often die younger than 30 years old from early atherosclerotic cardiovascular disease (ASCVD)incurred by extremely high levels of low-density lipoprotein cholesterol (LDL-C). We present a case of HoFH, a child with compound heterozygous mutation in this study. The effect of conventional lipid-lowering therapy through diet control and lipid-lowering drugs was unsatisfactory. The blood-lipid purification proves effective but has poor compliance and difficult to maintain for a longer time. The patient received orthotopic liver transplantation and had been followed for 2 years, with the patient shows normal LDL-C, well growth and development. We hope the case will provide the clinician with better understanding of the diagnosis and treatment of the rare disease of HoFH.

Transthyretin cardiac amyloidosis (ATTR-CA) is caused by the deposition of transthyretin(TTR) in the myocardial interstitium. Its clinical manifestations are mainly heart failure and arrhythmia, leading to poor life quality and low survival rate. Diagnosis is often delayed or missed due to the lack of disease awareness, the non-specific clinical symptom presentation of the disease, and inadequacy of non-invasive diagnostic methods and medications in the past. The recent availability of effective treatments makes the early recognition and diagnosis especially critical, because treatment is likely more effective earlier in the disease course. Therefore, it is crucial to establish a diagnosis and treatment strategy to facilitate the rapid and accurate identification of the disease. Based on the advances in research and experiences gained ATTR-CA, our team has developed a consensus on diagnosis and treatment for the disease. In this article, we interpret the key points and present the update of diagnostic process, providing clinicians with an overview of key aspects of ATTR-CA in China.

Health security for rare diseases has aroused much attention in the society nowadays, In this article, we analyzed in-depth the construction of rare diseases health security in China by studying the literature reviews, expert interviews, and reports of pilot policy investigations. We conclude in the study that it is an important step to constructing a multiple health security system for the rare disease making the basic health security as the cornerstone. For rare medications and treatments that cannot be covered by the current national health insurance, it is necessary to build an specific funding for rare disease funding as a means of safeguard. Finally, for those who are financially disadvantages, the system should involve relief and philanthropy to help them. By constructing a multiple health security system, rare diseases patients in our country will get a well-covered health care.

Off-label drug use represents a reasonable need for diagnosis and treatment in some cases, but it faces potential risks with drug safety and legal challenges. However, there was no guideline on how to manage the off-label drug use in China. Therefore, Peking Union Medical College Hospital, in cooperation with Evidence-based Medicine Center of Lanzhou University, established a working group and an expert group consisting of multidisciplinary group of experts to develop the Management Guideline for the Off-label Use of Drugs in China (2021). The Guideline is guided by the Law on Doctors of the People's Republic of China and the World Health Organization Guideline Development Manual. This is the first management guideline on the off-label use of drugs, aiming to improve the stakeholders' understanding of this topic and establish a standardized management procedure in China. This guideline has determined nine questions and proposed a total of twenty-three recommendations. The English version of the guideline was published in September 2022. This paper offers a detailed interpretation of the key points of the guidelines in order to provide suggestions and references for the management of off-label drug use.

In recent years, with the progress of multi-omics and next-generation sequencing technology, the association between gut microbiome and cardiovascular diseases has attracted great attention around the world. Gut microbiota, as a 'microbial organ', directly regulates the host's health status through lipopolysaccharide, metabolites like trimethylamine oxide and short-chain fatty acids, and affects the host's immunity through bacteria and their products. 'Gut-heart axis' may be a breakthrough in the prevention and treatment of cardiovascular diseases. The paper briefly discusses the relationship between gut microbiome and cardiovascular diseases, the possible ways in which gut microbes affect cardiovascular health, and the regulation of gut microbiota by various factors.

The postdoctoral training program of clinical medicine explores a new form of medical elite education in China. As one of the first pilot departments of the clinical postdoctoral program of Peking Union Medical College Hospital, Radiology Department has established a clinical postdoctoral training system and optimized the evaluation and feedback system, taking into account the work characteristics and based on the six core competence objectives proposed by the consensus of the resident core competence framework of China Resident Training Elite Teaching Hospital Alliance. This program has thus become a post-graduation education project for training Chinese compound radiology elites, which can in turn provide reference for the implementation of similar projects in other teaching hospitals.

Rare diseases refer to diseases characterized by very low prevalence rate but causing serious public health problem in the society. The diagnosis and treatment of the diseases pose great challenges.During the period of 13th Five-Year, China has accelerated the pace in all aspects targeting on policy support and scientific research in the rare diseases and on patients having the diseases. The efforts include establishing the cataglog for rare disease, introducing a series of policies to accelerate the R & D of drugs, upgrading the standardization of the diagnosis and treatment competences and so forth. In addtion, the establishment of National Rare Diseases Registry System(NRDRS) has been instrumental in knowing the burden of the diseases and enhancing the scientific research to rare diseases.

It is noteworthy that only 5% of more than 7000 described rare diseases are treated. In the era of big data, there is ever-increasing data for understanding biomedicine. The need for efficient and rapid data collection, analyses and characterization methods is pressing. Rare diseases can particularly benefit from artificial intelligence (AI) application. AI, with an emphasis on machine learning, creates a path for such efforts and is being applied to diagnosis and treatment. AI has demonstrated its potential to learn and analyze data from different sources with results in prediction。Presently, there are AI-driven technologies applied for rare diseases and this review aims to summarize these advances. Moreover, this review scrutinizes the limitation and identifies the pitfalls of AI applications in the diagnosis and treatment of rare diseases.

Rare diseases have been a major challenge for clinical medicine and public health challenge in China. One of the effective measures is to conduct proactive research on rare diseases to deal with the disease burden of the diseases. However, low prevalence, disperse distribution of patients, lack of knowledge about the disease course, and phenotype heterogeneity hamper the development of research for rare diseases. Recently, it has been found that patients registry is effective in understanding the course of the disease and accu- mulating the cases and data of clinical research or clinical trial design. At present, most of developed countries or regions in the world have promoted clinical research and clinical trials of new medications on rare diseases by using the registration of rare disease. In 2016, Peking Union Medical College Hospital established China's first registry system at the national level-National Rare Disease Registry System of China(NRDRS). NRDRS has accumulated 68 137 cases data registered by the researchers from China's 101 collaborating hospitals in 29 provinces/municipalities/autonomous regions, covering 171 different, and forming 188 cohorts. To date, NRDRS complete the initial stage of resources buildup.Nex stage will be focused on clinical research and clinical trials related to rare diseases based on NRDRS. This article is on the process of building NRDRS, the potential support for conducting clinical research and clinical trials related to rare diseases, and the challenges will be faced.

Rare disease (RD)is the general term for a class of diseases with very low prevalence.Due to the relatively small number of patients with rare diseases, the diagnosis and treatment, drug research and development, medical safeguard, and scientific research of rare diseases are poorly developed, which highlight the difficulty in diagnosis and treatment, lack of availability of treatment drugs, and lower rate of medical safeguard. In 2018, China's First Edition of Rare Diseases Catalogue was published, which for the first time defined the management scope of rare diseases and promoted research development in field of RD.Since the 13th Five-Year Plan, China has launched a series of policies and measures outlining prevention and treatment of rare diseases, drug research and development, registration, accessing healthcare, and scientific research.In order to further improve the diagnosis, treatment, and management of rare diseases, and better safeguard the health rights and interests of patients with RDs, this paper focuses on the policies and exploration and practice related to rare diseases in China in recent years, and makes suggestions for future policy reviews.

Transthyretin-related amyloid cardiomyopathy (ATTR-CM) is a disease caused by the depo-sition of insoluble amyloid fibers formed by the misfolding of transthyretin precursor protein in the intercellular space of cardiomyocytes. This lesion may lead to myocardial dysfunction, cogestive heart failure, and death.When diagnosed earlier, the patient can be treated with drugs as soon as possible to intervene in the progress of the disease, so as to effectively improve the patient's prognosis.99mtechnetium-pyrophosphate (99Tcm-PYP)single-photon emission computed tomography (SPECT) has been widely used in the imaging examination of cardiac amyloidosis (CA) in recent years. While achieving early non-invasive diagnosis, accurate pathological classification can be obtained through Perugini visual score analysis, semi-quantitative analysis of heart to contralateral lung (H/CL) ratio, and SPECT image analysis. This article presents the application, methods, and the precautions of 99Tcm-PYPSPECT in the diagnosis of ATTR-CM, aiming to provide clinical reference for the application of this technology.

The clinical medical postdoctoral project is a complex elite national project of post-graduation supported by the Ministry of Human Resources and Social Security. Since the 2016 academic year, the department of internal medicine at Peking Union Medical College Hospital has launched, modified and developed this project on multiple aspects, including the stratified training mode, 360 degree evaluating system, system of evaluation and feedback for progressive training, and program of simulation. During the process of implementing this project, we continued the improving process according to the feedback from multiple aspects. In this article, we demonstrated the innovation of this project and summarized our experience during the implementing process, hopefully to provide reference for cultivating a complex medical elite with international vision.

With the significant improvement of China's social and economic level, people's demand for high quality medical services is growing rapidly. There is an urgent need for more clinicians with solid foundations, excellent technology, and highly comprehensive quality. Peking Union Medical College Hospital (PUMCH) has continuously inherited and innovated the training model of outstanding medical talents. Based on previous experience, literature, and results of pilot research, PUMCH has explored and implemented the 'Clinical Postdoctoral Program' since 2016, which is one of the innovations in postgraduate medical education in China, aiming at highly efficiently and continuously strengthening the students' ability of clinical practice, scientific research and teaching. This program cultivates high-level medical elite by optimizing the course system, innovating training mode, regrouping the faculty team, building effective evaluating and examining system, which provides a new train of thought and experience, and plays a significant role in the reserve forces of the development of national medical talents for the strategic goal of 'Healthy China'.

In 2020 and 2021, great progress was made in the field of rare diseases in China. In the aspect of rare disease related policies, China built the National Key Laboratory of Rare Diseases and prepared for the National Quality Control Center of Rare Diseases. China has granted zero tariffs on raw materials and drugs for rare diseases since 2021, and the number of rare diseases included in health insurance in local areas has increased. In the aspect of drugs for rare disease, during the past two years, 14 drugs for rare diseases were included in the system of national health insurance; 13 were approved by China National Medical Products Administration; and more gained the qualification for prior review. In the aspect of patient registration and epidemiological study of rare diseases, China enabled the National Rare Diseases Registry System and set up the registry regime. The first epidemiological study of myasthenia gravis in China was published. The screening programof lysosomal storage syndrome and the first cohort study on achondroplasia in China were started. Besides the official policies and channels, organizations and informational platforms for patients also played an important role in the field of rare diseases.

This article addresses the ethical issues of respect for autonomy and informed consent, focusing on how clinicians should deal with these concepts in clinical practice. We first clarify the concept of respect for autonomy and its practical application, as well as informed consent. We then track the origin and development of informed consent both in western countries and in China. Followed by describing several challenges that limit the practice of informed consent, we make our suggestions so as to help clinicians handle the informed consent in daily practice.

Objective: We performed a network meta-analysis to investigate the optimal antithrombotic regime by indirectly comparing new antithrombotic regimes (new P2Y12 inhibitors plus aspirin or novel oral anticoagulants on top of traditional dual antiplatelet therapy [DAPT]) in patients with acute coronary syndrome (ACS). Methods: A systematic search of MEDLINE, EMBASE, and the Cochrane databases was performed to identify all phase 3 randomized controlled trials (RCTs) involving novel oral anticoagulants or oral P2Y12 inhibitors in patients with ACS. Major adverse cardiac events (MACE) were regarded as the efficacy endpoint, and thrombolysis in myocardial infarction (TIMI) major bleeding events were used as the safety endpoint. The net clinical benefit was calculated as the sum of MACE and TIMI major bleeding events. Results: Five phase 3 RCTs with 64,476 ACS patients were included. Although there were no significant differences among new antithrombotic regimes, rivaroxaban 5 mg twice daily plus traditional DAPT might be the most effective in reducing the incidence of MACE, accompanying the highest risk of TIMI major bleeding. Ticagrelor plus aspirin presented slight advantage on the net clinical benefit over other new antithrombotic regimes, with the highest probability of being the best regimes for net clinical benefit (35.0%), followed by prasugrel plus aspirin (28.0%), and rivaroxaban 2.5 mg twice daily plus traditional DAPT (19.5%). Conclusion: Novel antithrombotic regime with ticagrelor plus aspirin brings a larger clinical benefit in comparison with other regimes, suggesting that it may be the optimal antithrombotic regime for patients with ACS. [ABSTRACT FROM AUTHOR]