2014 Third China Rare Disease Summit Held in Beijing September 23, 2014

The Chinese Organization for Rare Disease (CORD) and the Beijing Branch of the Rare Diseases Medical Association jointly held the "2014 Third China Rare Disease Summit" in Beijing on September 21.[Women of China/Yao Yao]

The Chinese Organization for Rare Disease (CORD) and the Beijing Branch of the Rare Diseases Medical Association jointly held the "2014 Third China Rare Disease Summit" in Beijing on September 21.
The forum invited nearly 200 people, including government workers, medical experts, law professors, pharmaceutical companies, rare disease organizations and media representatives, to discuss rare disease-related health care, policy, social issues, working for Chinese rare diseases more.
Earlier in the year, the "Ice Bucket Challenge" helped people understand about the debilitating condition Amyotrophic Lateral Sclerosis (ALS). The charity activity initiated by the Amyotrophic Lateral Sclerosis (ALS) Association in the United States, has been sweeping around the world. The activity involves dumping a bucket of ice water on someone's head to promote awareness of the disease amyotrophic lateral sclerosis (ALS) and encourage donations to ALS patients and medical research.
Wang Lin, deputy director of the Beijing branch of the Medical Association of Rare Diseases delivered the keynote speech titled: "Beijing Medical Rare Disease Chapters in Action". Last year, the Medical Association of Rare Diseases launched a rare disease research project. After a preliminary investigation, the top three hospitals have seen 400,000 rare diseases afflict patients in Beijing over the last 35 years. Through this research, an ICD-10 coding sequence library for rare diseases can be established. Although this research report is still basic and preliminary, such data provides a reference point for the development of relevant government departments and health insurance policies.
Participants actively discussed how to actively mobilize social forces to solve the problem of rare diseases, with the people in charge of foundations, the media, business leaders, pharmaceutical companies, as well as the heads of various NGO's focusing on rare diseases were brought together to discuss these issues. At last, CORD and Shanghai Lianquan Foundation launched the "Rare Diseases Joint Fund" and promised to hold an inaugural ceremony. Under the auspices of the grand introduction from theChinese Organization for Rare Disease (CORD) , Huang Rufang and Wu Jinrong briefed the guests on cases where rare diseases were treated with joint funds.
At present, China doesn't have enough social insurance policies to combat rare diseases, the treatment of which is not included on the standard medical insurance, and the high costs of medial treatment have impoverished numerous families.


Chinese Organization for Rare Disease (CORD) and the Beijing Branch of the Rare Diseases Medical Association jointly held the "2014 Third China Rare Disease Summit" in Beijing on September 21. [Women of China/Yao Yao]

 
 
 

Experts call for policies on rare diseases

China Daily, September 15, 2014
Adjust font size: Experts at an international seminar held over the weekend at the Children's Hospital of Fudan University called for legislation and related policies on the prevention and treatment of rare diseases.


Liu Yuliang, a patient with amyotrophic lateral sclerosis, also known as Lou Gehrig's disease, is helped by his father as he enters his home in Ganzhou, Jiangxi province, on Wednesday. The disease attacks nerve cells and ultimately causes total paralysis. The number of ALS patients in China is estimated at over 100,000. Chen Dichang / for China Daily

It is estimated that more than 10 million people in China have rare diseases.
A rare disease, also known as an orphan disease, is any disease that affects between 0.65 and 1 percent of the population. About 80 percent of rare diseases are genetic, and many appear early in life.
"Despite the huge number of cases, the related work in China such as research, regulations and social support are only developing slowly," said Li Dingguo, chairman of the rare disease branch of the Shanghai Medical Association.
"Related regulations should be created to help provide better support to patients with rare diseases and their families," Li said at the international seminar at the Children's Hospital on Duchenne Muscular Dystrophy.
DMD is a fatal rare disease that eventually leads to heart failure due to muscular paralysis. About 1 in 3,500 people have the disease, and China is one of the countries with the highest numbers of DMD patients.
In 2011, the Children's Hospital of Fudan University established a pathologic diagnosis lab and specialized outpatients service for DMD. It also carried out a series of activities to support DMD patients and their families and to educate the public to prevent the disease.
"The prevention of rare diseases is a comprehensive work, and requires the work of various departments, such as health, medical insurance and civil affairs. In this regard, an integrated body should be established to head up the project on rare diseases," Li said.
Some areas in China, including Beijing, Shanghai, Shandong and Guangdong province, have already started research work and established academic platforms for rare diseases.
"But this is not enough. A national-level academic platform should be set up as well," Li said.
"The prevention work for rare diseases will be an important part of the legislation. Besides that, there should be 'green channels' for patients to have access to drugs," said Lian Yuqiang, an associate professor at the East China University of Political Science and Law, who has been working on legislation for rare diseases for many years.
A green channel is a fast track for a drug from outside China to obtain approval, according to Lian.
Some patients with rare diseases face poor drug supplies because some drugs are not allowed to enter China due to restrictions.
"Most of the drugs are expensive, and are a huge financial burden for patients and their families. The government should also work to bring the drugs under medical insurance coverage when they are introduced into China," Lian said.
Globally, there are about 5,000 to 6,000 rare diseases, such as leukemia, albinism, Pompe disease, Gaucher disease and amyotrophic lateral sclerosis. Most rare diseases do not have effective treatment methods.

Major rare diseases in China Source:en.nhfpc.gov.cn

Updated: 2014-09-22

Rare disease refers to diseases with low prevalence. The definition of rare diseases varies in different countries worldwide. The World Health Organization defines diseases with patients accounting for 0.65‰~1‰of the total population as rare diseases.
To date, there are 6,500 kinds of diseases that have been identified as rare diseases, according to statistics of the US-based National Institutes of Health. China doesn't have an official definition of rare diseases because there have not been enough studies on China's rare disease development. Foreign data doesn't necessarily fit in with China's conditions and therefore, China has difficulties in formulating rare disease policies.
If the foreign data applies, China should have tens of millions of rare disease patients. At the moment, many countries and regions have set up rare disease organizations, laws and regulations. The US and Japan define diseases with patients less than 200,000 and 50,000 nationwide, respectively, as rare diseases. The US has come up with the rare disease security act to protect the rights and interests of patients with rare diseases.
China's major rare diseases include phenylketonuria, thalassemia, Osteogenesis imperfecta, hyperammonemia, Organic acidemia and Wilson's disease.
Albinism is caused by gene mutations, which leads to flawed melanin or melanosome synthesis. Symptoms include achromic skin, eyes or hair. Patients will develop white skin and hair, nystagmus, photophobia and poor sight. They are also easily sunburned.
Phenylketonuria
Phenylketonuria is a common amino acid metabolic disease, and it is caused by enzyme deficiency in phenylalanine metabolism, which prevents phenylalanine from turning into tyrosine. Excessive amounts of phenylalanine and ketonic acid is discharged in urine. The disease is acquired through autosomal recessive inheritance. Patients are most likely to develop mental retardation, neurological disorders, eczema, skin scratches and depigmentation with abnormal encephalogram. Early diagnosis and treatment can prevent the above-mentioned symptoms from happening.
Motor neuron disease
Amyotrophic lateral sclerosis, also known as motor neuron disease, is acquired through injury in upper and lower motor neurons, which leads to gradual muscle weakness and atrophy in the limbs, trunks, chest and abdomen. It may even cause paralysis. It’s like the body is being frozen gradually. The specific cause of the disease remains unknown. Roughly 20 percent of all cases may be related to gene defects. Other cases may be related to environment elements, such as heavy metal poisoning.
Marfan syndrome
Morbidity: 1-5/10,000
Inheritance pattern: Autosomal dominant inheritance
Marfan syndrome is a congenital mesoderm mal-development and connective tissue disease. It’s mainly acquired through autosomal dominant inheritance. Some cases are acquired through autosomal recessive inheritance. Cause of the disease remains unknown. Some people think that it has something to do with congenital protein metabolism anomaly. Patients might suffer from bone, cardiovascular system and eye problems. Antoine, a French pediatrician, first discovered the disease. Similar cases were found later.
Osteogenesis imperfecta
Osteogenesis imperfecta, also called brittle bone disease, is a rare congenital bone disease. Patients are prone to bone fracture, which might occur from slight collisions. Three out of 100,000 people might catch the disease. Men and women share the same risk. The cause of the disease remains unknown. The disease leads to collagenous fiber deficiency and systemic connective tissue problems. Patients are likely to suffer bone, eye, ear, skin and tooth problems.
Less severe cases might exhibit no symptoms and only suffer from slight bone fractures. Critical cases may result in crippling or death. Slight injuries might lead to bone fractures, some spontaneous and some repetitive.
Acromegaly
Morbidity: 1-9/10,000 people
Acromegaly is caused by pituitary gland hyperplasia or tumors, which lead to growth hormone hypersecretion. Youth will develop gigantism and adult patients will suffer thickening skin, tongue and lips; deepening skin wrinkles and texture; and broadening nasolabial grooves. At the same time, the pituitary tumor will cause organ lesions and cancer, affecting life expectancy.
The disease is rare and features slow onset. Young people and middle-aged men are more likely to develop the disease, which has a long course of more than 30 years. Patients will develop a rough face, headache, sweating, backache, broadening hands and feet, or symptoms of diabetes and hyperthyroidism.

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Event & News

BEIJING - Nearly 10 million patients suffering from rare diseases in China are facing difficulties receiving proper diagnosis and treatment,Some patients gave up treatment even though imported medicine was available, adding that costly drug prices as well as incomplete medical security are major barriers.

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