Stone Man's Disease This unusual and rare disease transforms a person's muscle tissues into bones. This disease is also called fibrodysplasia ossificans progressiva (FOP).
How many people have rare diseases? According to the National Institutes of Health (NIH), there are approximately 7,000 rare diseases affecting between 25 and 30 million Americans. This equates to 1 in 10 Americans, or one on every elevator and four on every bus.
With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease.
A rare disease is a health condition of low prevalence that affects a small number of people compared with other prevalent diseases in the general population. It is estimated that globally around 6000 to 8000 rare diseases exist with new rare diseases being reported in the medical literature regularly.
cancer. dementia, including Alzheimer's disease. advanced lung, heart, kidney and liver disease. stroke and other neurological diseases, including motor neurone disease and multiple sclerosis.
Rare diseases are life-threatening or chronically debilitating disorders that affect fewer than 1 in 2000 people. Although the occurrence of each individual condition may be low, more than 2 million Australians are living with a rare disease (Australian Government, Department of Health).
Heart disease is the leading cause of death in both men and women.
In the United States, a rare disease is one that fewer than 200,000 people live with. (In other words, 60 per 100,000 individuals.) Around the world, rare diseases are identified and addressed differently. The European Union considers a disease rare if it affects no more than 50 per 100,000 people.
Alkaptonuria. Frequency: one in one million people globally. Alkaptonuria, or “black urine disease”, is a very rare inherited disorder that prevents the body from fully breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine.
The three leading causes of burden of disease in 2030 are projected to include HIV/AIDS, unipolar depressive disorders, and ischaemic heart disease in the baseline and pessimistic scenarios.
1. The Black Death: Bubonic Plague. The Black Death ravaged most of Europe and the Mediterranean from 1346 until 1353. Over 50 million people died, more than 60% of Europe's entire population at the time.
Leading causes of death globally
The world's biggest killer is ischaemic heart disease, responsible for 16% of the world's total deaths. Since 2000, the largest increase in deaths has been for this disease, rising by more than 2 million to 8.9 million deaths in 2019.
Around 80% of rare diseases are of genetic origin and, of those, 70% already start in childhood.
Approximately 80% of rare diseases are estimated to have a genetic origin. These rare diseases may suffer from missing heritability [15, 16]. One question worth asking is, how can we explain the missing heritability that might be the cause of the challenges we are facing in rare disease diagnostics?
While larger animals like sharks or hippos may seem a likely culprit, the animal that kills the most humans per year is actually the mosquito.
Serial killers with the highest known victim count. The most prolific modern serial killer is arguably doctor Harold Shipman, with 218 probable murders and possibly as many as 250 (see "Medical professionals", below). However, he was actually convicted of a sample of 15 murders.
Of great importance to public and child health are the vaccines against the so-called six killer diseases of childhood-measles, pertussis, diphtheria, tetanus, tuberculosis and poliomyelitis.
Cause 1: Ischaemic heart disease
Ischaemic heart disease was the leading single cause of deaths in Australia, responsible for 17,331 deaths in 2021, about one in 10 of total deaths that year. Males were more prone to the disease, accounting for 10,371 (59.8%) of the deaths compared to 6,960 (40.2%) for females.
Biosecurity has played a critical role in reducing risk and shaping our nation to become one of the few countries in the world to remain free from the world's most invasive pests and diseases.
Foot-and-mouth disease (FMD), African swine fever (ASF) and Lumpy skin disease (LSD) are animal diseases and are not present in Australia. They do not pose human health concerns. Avian influenza (bird flu, AI) is a global disease of birds and some strains may affect humans.
Today, the COVID-19 pandemic is frequently compared with the influenza pandemic of 1918-1919. The destruction caused by that pandemic a century ago may sound familiar.
Rabies. Rabies, one of the oldest known infectious diseases, is nearly 100% fatal and continues to cause tens of thousands of human deaths globally (1).