What is an Orphan Disease?

Generally speaking, orphan disease is a rare disease, which refers to a disease with an incidence rate of less than one in 200,000. However, the concept of orphan disease is broader than rare diseases, and includes some "rare homes" that are not rare but are ignored by people. Disease.

Orphan disease

Generally speaking, orphan disease is a rare disease, which refers to a disease with an incidence rate of less than one in 200,000. However, the concept of orphan disease is broader than rare diseases, and includes some "rare homes" that are not rare but are ignored Disease.

Chinese name

Orphan disease

Foreign name

Orphan Disease

Orphan disease

Diseases with an incidence of less than 1 in 200,000

Orphan disease

Unseen like an "orphan"

The so-called "unseen disease", the original text is Orphan Disease, literally translated as "orphan disease", refers to a rare disease with less than 1,000 patients per million population. Pharmaceutical companies are not interested in developing drugs to treat this type of disease because the market is too small to recover the investment in research and development and market development. These diseases are like "orphans" that no one cares about and are not seen, so they are called "orphan diseases". According to the US Food and Drug Administration's definition, "orphan disease" refers to a disease with less than 200,000 patients across the United States. For example, there are only about 1,000 cases of malaria in the United States, and malaria is an orphan disease in the United States. ^[1]

The reasons for being ignored are many, one is that these diseases are indeed rare and people lack sufficient understanding of them; the other is that these diseases are "unprofitable", and pharmaceutical factories and medical institutions have no economic incentive to develop treatments and drugs. But for people and families suffering from these "orphan diseases", these diseases are no longer "rare" for them, and the needs of people with the disease should also be paid attention to.

Many orphan diseases, if they can be detected early, preventive interventions should be made in time.

Orphan newborn screening

Judging from the progress of the U.S. newborn screening program, this is a very long process. Although people realized more than 40 years ago that this is perhaps the best public health measure for early diagnosis of rare diseases, it is very implemented. Difficult, because this involves financial issues, political issues, ethical issues, etc. Judging from a case of congenital fatty acid metabolism disorder (MCAD), only six states in the United States screened the disease in 2001, and 16 cases were found in 400,000 newborns, with a rate of 0.039 per thousand. By 2006, screening for the disease had been expanded to more than half of the states, more than 3.5 million newborns were screened, 222 patients were found, and the rate of detection also rose to 0.062 per thousand. This result is a complete change in fate for these 222 new patients, because the patients who have not found themselves suffering from MCAD, the most common first symptom is "sudden death". After discovery, ensure timely eating and avoid mobilizing their bodies due to hunger Fatty acid metabolism in these patients, these patients can live like normal children. This is indeed the case. After the promotion of screening for MCAD, the mortality rate of the disease decreased from 25% when it was unknown to nearly zero after it was known. Newborn screening in the United States now covers all parts of the country. Newborns born in the United States in 2011 must be examined. The diseases covered vary from place to place, ranging from nearly 30 core diseases to nearly 60 All doctors recommend screening for diseases, such as New Jersey for 59 diseases, which can cost $ 70 to $ 120.

Pre-pregnancy genetic screening for orphan disease

With the rapid development of molecular biology research, genetic testing has become a new way to find orphan disease. A true story here tells the hope and future of genetic screening. On July 4, 1994, it was National Day in the United States. On this day Lisa gave birth to her first child since her husband Jack was married. The child's name was Molly. When Lisa picked up the baby, she found that the child was awkward, crying weakly, and her little hand was missing a finger. Lisa was a nurse. She immediately realized what the child was ill, so she started flipping books. She soon confirmed that her child had a rare Fanconi anemia, and finally the doctor confirmed her judgment. The reason for the child's illness was clear, because she and her husband were the same Fanconi (FA ) Carriers of mutant genes. ^[2]