Medical experts put focus on rare diseases

Local medical experts have organized lectures and online consultations about rare diseases in the lead-up to World Rare Disease Day on Sunday.

Rare diseases are diseases with an incidence of lower than one in every 500,000 people, or one in every 10,000 newborn babies. There are more than 7,000 rare diseases recognized at present, with 80 percent inherited. 

About half of the diseases develop during childhood, and 30 percent of children with rare diseases only make it to 5 years old. Only 5 percent of rare diseases are treatable with medicine.

Shanghai First Maternity and Infant Hospital teamed up with Shanghai Medical Association’s rare disease branch and charity organizations to launch the lectures and consultations to promote knowledge and awareness of rare diseases.

Experts said pre-pregnancy and prenatal care are key to rare disease prevention and control.

Shanghai First Maternity and Infant Hospital, which delivers nearly 30,000 newborn babies each year, has set up pre-pregnancy consultations and checks, fetal medicine, newborn screening based on prenatal diagnosis center, and a cell and molecular genetic lab to offer clinical services in pre-pregnancy care, prenatal screening and diagnosis of rare diseases, officials said.