Infographic: Which Rare Diseases Are The Most Common?
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Infographic: Which Rare Diseases Are The Most Common?

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Rare Diseases Infographic

Infographic: Which Rare Diseases Are The Most Common?

Pharmaceuticals have come a long way since the apothecary days of prescribing cocaine drops for toothaches, or dispensing tapeworm diet pills.

Today, medical breakthroughs like antibiotics and vaccines save millions of lives, and contribute to the industry’s mammoth size. Yet even with rapid advancements, a select group of rare diseases still fly under the radar — and together, they affect over 350 million people worldwide.

What Are Rare Diseases?

Today’s infographic from Raconteur breaks down occurrence rates of notable rare diseases, and their collective impact on pharmaceutical drug sales. But first, let’s look at how they’re defined.

Diseases are considered rare, or “orphan” if they affect only a small proportion of the population. In general, it’s estimated that 1 in 17 people will be afflicted by a rare disease in their lifetime. At the same time, as many as 7,000 rare diseases exist, with more discovered every year.

A report by the global investment bank Torreya looks at the most common types of rare diseases that are a focus for therapeutic companies around the world:

  • Multiple sclerosis emerges above all others, at 90 patients per 100,000 people.
  • Narcolepsy—intermittent, uncontrollable episodes of sleepiness—affects 50 patients per 100,000.
  • Primary biliary cholangitis, the damage of bile ducts in the liver, affects 40 people in 100,000.
  • Rounding out the top five orphan diseases are Fabry disease (30 patients per 100,000), and cystic fibrosis (25 patients per 100,000).

One catch behind these stats? There’s actually no universal definition of what constitutes a rare disease. This means prevalence data like the above is often inconsistent, making it difficult to record the precise rate of natural occurrence.

The Cost of Rare Diseases

This gap in knowledge comes at a price—many rare diseases have constrained options for treatment. Orphan drugs are often commercially underdeveloped, as their limited end-market usage means they aren’t usually profitable enough for traditional research.

In the United States, government-backed incentives such as tax credits for R&D costs and clinical trials are speeding up the pathways from drug to market. Other places like the EU, Japan, and Australia are also following suit.

In total, it’s estimated that pharma companies focused on rare diseases are worth about half a trillion in enterprise value, roughly equal to 17.5% of the value of Big Pharma:

  • Non-oncology value: $315.7B
  • Oncology value: $193.1B
  • Total enterprise value: $508.8B

Source: Torreya Report. Market values are for the top 31 pure play rare disease therapeutic companies.

The average cost of an orphan drug per U.S. patient annually can climb to near $151,000 (a whopping 4.5 times that of a non-orphan drug, at $34,000). That’s why the pharma industry is urgently advancing rare disease therapeutics across different categories.

Dominant Orphan Drug Sales

According to other estimates, orphan drugs are set to capture over one-fifth of global prescription sales by 2024. Blood, central nervous system, and respiratory-related drugs are currently the top therapeutic categories and are expected to keep this status into the future.

The figures below break down global orphan drug sales by therapy category, and their present and estimated future market share. Note that oncology-related orphan drug sales are excluded from this table.

Therapy Category2018 SalesMarket Share2024E SalesMarket ShareChange in Market Share
Blood$21.3B31.4%$33.1B27.9%-3.4%
Central nervous system (CNS)$11.1B16.3%$20.3B17.1%0.8%
Respiratory$7.8B11.5%$13.6B11.5%0%
Immunomodulators$7B10.3%$12.5B10.5%0.2%
Cardiovascular$6.7B9.9%$8.5B7.2%-2.7%
Endocrine$3.8B5.6%$5.6B4.7%-0.9%
Musculoskeletal$3.5B5.2%$11B9.3%4.1%
Systemic anti-infectives$3.1B4.6%$4.2B3.5%-1%
Gastro-intestinal$2.9B4.3%$6B5.1%0.8%
Genito-urinary$0.6B0.9%$1.5B1.3%0.4%
Sensory organs$0.1B0.1%$1.5B1.3%1.1%
Dermatology$0B0%$0.7B0.6%0.6%
Total Sales$67.9B$118.5B

Source: EvaluatePharma. Industry sales are based on the top 500 pharma and biotech companies.

Much is still unknown about rare diseases in the health community. Frequent misdiagnosis, and up to an average of 8 years for an accurate diagnosis, continue to be a problem for patients.

There are two sides to the situation. On one, tech giants like Microsoft are providing digital health solutions to speed up diagnosis, through machine learning and blockchain-based patient registry.

On the other, many skeptics question whether the industry is interested in finding cures for rare diseases at all, especially when they account for a significant portion of industry revenues.

Is curing patients a sustainable business model?

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Misc

Explainer: What to Know About Monkeypox

What is monkeypox, and what risk does it pose to the public? This infographic breaks down the symptoms, transmission, and more.

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Explainer: What to Know About Monkeypox

The COVID-19 pandemic is still fresh in the minds of the people around the world, so it comes as no surprise that recent outbreaks of another virus are grabbing headlines.

Monkeypox outbreaks have now been reported in multiple countries, and it has scientists paying close attention. For everyone else, numerous questions come to the surface:

  • How serious is this virus?
  • How contagious is it?
  • Could monkeypox develop into a new pandemic?

Below, we answer these questions and more.

What is Monkeypox?

Monkeypox is a virus in the Orthopoxvirus genus which also includes the variola virus (which causes smallpox) and the cowpox virus. The primary symptoms include fever, swollen lymph nodes, and a distinctive bumpy rash.

There are two major strains of the virus that pose very different risks:

  • Congo Basin strain: 1 in 10 people infected with this strain have died
  • West African strain: Approximately 1 in 100 people infected with this strain died

At the moment, health authorities in the UK have indicated they’re seeing the milder strain in patients there.

Where did Monkeypox Originate From?

The virus was originally discovered in the Democratic Republic of Congo in monkeys kept for research purposes (hence the name). Eventually, the virus made the jump to humans more than a decade after its discovery in 1958.

It is widely assumed that vaccination against another similar virus, smallpox, helped keep monkeypox outbreaks from occurring in human populations. Ironically, the successful eradication of smallpox, and eventual winding down of that vaccine program, has opened the door to a new viral threat. There is now a growing population of people who no longer have immunity against the virus.

Now that travel restrictions are lifting in many parts of the world, viruses are now able to hop between nations again. As of the publishing of this article, a handful of cases have now been reported in the U.S., Canada, the UK, and a number of European countries.

On the upside, contact tracing has helped authorities piece together the transmission of the virus. While cases are rare in Europe and North America, it is considered endemic in parts of West Africa. For example, the World Health Organization reports that Nigeria has experienced over 550 reported monkeypox cases from 2017 to today. The current UK outbreak originated from an individual who returned from a trip to Nigeria.

Could Monkeypox become a new pandemic?

Monkeypox, which primarily spreads through animal-to-human interaction, is not known to spread easily between humans. Most individuals infected with monkeypox pass the virus to between zero and one person, so outbreaks typically fizzle out. For this reason, the fact that outbreaks are occurring in several countries simultaneously is concerning for health authorities and organizations that monitor viral transmission. Experts are entertaining the possibility that the virus’ rate of transmission has increased.

Images of people covered in monkeypox lesions are shocking, and people are understandably concerned by this virus, but the good news is that members of the general public have little to fear at this stage.

I think the risk to the general public at this point, from the information we have, is very, very low.
–Tom Inglesby, Director, Johns Hopkins Center for Health Security

» For up-to-date information on monkeypox cases, check out Global.Health’s tracking spreadsheet

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Healthcare

Visualizing How COVID-19 Antiviral Pills and Vaccines Work at the Cellular Level

Despite tackling the same disease, vaccines and antiviral pills work differently to combat COVID-19. We visualize how they work in the body.

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Current Strategies to Tackle COVID-19

Since the pandemic started in 2020, a number of therapies have been developed to combat COVID-19.

The leading options for preventing infection include social distancing, mask-wearing, and vaccination. They are still recommended during the upsurge of the coronavirus’s latest mutation, the Omicron variant.

But in December 2021, The United States Food and Drug Administration (USDA) granted Emergency Use Authorization to two experimental pills for the treatment of new COVID-19 cases.

These medications, one made by Pfizer and the other by Merck & Co., hope to contribute to the fight against the coronavirus and its variants. Alongside vaccinations, they may help to curb extreme cases of COVID-19 by reducing the need for hospitalization.

Despite tackling the same disease, vaccines and pills work differently:

VaccinesPills
Taken by injectionTaken by mouth
Used for prevention Used for treatment only
Create an enhanced immune system by stimulating antibody productionDisrupt the assembly of new viral particles

How a Vaccine Helps Prevent COVID-19

The main purpose of a vaccine is to prewarn the body of a potential COVID-19 infection by creating antibodies that target and destroy the coronavirus.

In order to do this, the immune system needs an antigen.

It’s difficult to do this risk-free since all antigens exist directly on a virus. Luckily, vaccines safely expose antigens to our immune systems without the dangerous parts of the virus.

In the case of COVID-19, the coronavirus’s antigen is the spike protein that covers its outer surface. Vaccines inject antigen-building instructions* and use our own cellular machinery to build the coronavirus antigen from scratch.

When exposed to the spike protein, the immune system begins to assemble antigen-specific antibodies. These antibodies wait for the opportunity to attack the real spike protein when a coronavirus enters the body. Since antibodies decrease over time, booster immunizations help to maintain a strong line of defense.

*While different vaccine technologies exist, they all do a similar thing: introduce an antigen and build a stronger immune system.

How COVID Antiviral Pills Work

Antiviral pills, unlike vaccines, are not a preventative strategy. Instead, they treat an infected individual experiencing symptoms from the virus.

Two drugs are now entering the market. Merck & Co.’s Lagevrio®, composed of one molecule, and Pfizer’s Paxlovid®, composed of two.

These medications disrupt specific processes in the viral assembly line to choke the virus’s ability to replicate.

The Mechanism of Molnupiravir

RNA-dependent RNA Polymerase (RdRp) is a cellular component that works similar to a photocopying machine for the virus’s genetic instructions. An infected host cell is forced to produce RdRp, which starts generating more copies of the virus’s RNA.

Molnupiravir, developed by Merck & Co., is a polymerase inhibitor. It inserts itself into the viral instructions that RdRp is copying, jumbling the contents. The RdRp then produces junk.

The Mechanism of Nirmatrelvir + Ritonavir

A replicating virus makes proteins necessary for its survival in a large, clumped mass called a polyprotein. A cellular component called a protease cuts a virus’s polyprotein into smaller, workable pieces.

Pfizer’s antiviral medication is a protease inhibitor made of two pills:

  1. The first pill, nirmatrelvir, stops protease from cutting viral products into smaller pieces.
  2. The second pill, ritonavir, protects nirmatrelvir from destruction by the body and allows it to keep working.

With a faulty polymerase or a large, unusable polyprotein, antiviral medications make it difficult for the coronavirus to replicate. If treated early enough, they can lessen the virus’s impact on the body.

The Future of COVID Antiviral Pills and Medications

Antiviral medications seem to have a bright future ahead of them.

COVID-19 antivirals are based on early research done on coronaviruses from the 2002-04 SARS-CoV and the 2012 MERS-CoV outbreaks. Current breakthroughs in this technology may pave the way for better pharmaceuticals in the future.

One half of Pfizer’s medication, ritonavir, currently treats many other viruses including HIV/AIDS.

Gilead Science is currently developing oral derivatives of remdesivir, another polymerase inhibitor currently only offered to inpatients in the United States.

More coronavirus antivirals are currently in the pipeline, offering a glimpse of control on the looming presence of COVID-19.

Author’s Note: The medical information in this article is an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. Please talk to your doctor before undergoing any treatment for COVID-19. If you become sick and believe you may have symptoms of COVID-19, please follow the CDC guidelines.

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