“We often encounter diseases we have never heard of before”

By: Maria Trustrup, journalist, Pharmadanmark. Photo: Rigshospitalet

If you look up the word ‘rare’ in the dictionary, some of the first descriptions that appear are ‘unusual’ and ‘remarkable’.

And while most of us would probably like to be noticed and considered a bit extraordinary, belonging to a rare category also comes with challenges.

This is especially true when we talk about diseases.

There are approximately 6,000–7,000 rare diseases, and between 30,000 and 50,000 people in Denmark are currently living with a rare condition.

A rare disease is defined as one that affects less than one in 2,000 people – and it is typically chronic and associated with reduced life expectancy.

80% of rare diseases are genetic, which is why they make up the majority of Elsebet Østergaard’s daily work.

She is clinical genetics doctor at Rigshospitalet and a professor at the Department of Clinical Medicine at the University of Copenhagen.

Meet Elsebet at Life Science Talks – read more and register here

Elsebet divides her time equally between research and teaching at the university and clinical work at Rigshospitalet.

Here, she typically meets patients with rare diagnoses.

“It’s challenging, because we often encounter diseases we have never heard of before. That also means there is rarely much literature available in the field,” Elsebet says, and continues:

“We may see patients with conditions that have perhaps only been described in three other patients worldwide. That means there are no established guidelines – and that makes it difficult to advise patients and their families.”

A field in “rapid development”

One of the major challenges when it comes to rare diseases is that there is often no treatment – and if treatment does exist, it is typically very expensive.

“Historically, there has been greater interest in developing treatments for more common diseases. And that makes sense – who would develop a treatment for something that only affects three people worldwide? It doesn’t add up economically,” Elsebet says.

Although it can be difficult to work in a field where treatment options are often limited, Elsebet also sees many positive developments.

Especially because the field is, as she describes it, “developing rapidly.”

“I’ve worked in genetics for 25 years, and when I started, we simply couldn’t do what we can do today,” she says.

In the past, diagnosis was a major challenge. It was based on conducting a very thorough assessment of the patient’s symptoms and, from that, trying to identify the gene involved.

“We simply didn’t have the knowledge about the human genome that we have today. As a result, many patients never received a precise diagnosis,” Elsebet explains.

“I’ve worked in genetics for 25 years, and when I started, we simply couldn’t do what we can do today."

“For me, it is deeply satisfying that patients who have lived for many years without a clear diagnosis can now receive one and learn the underlying cause of their disease. It means a great deal that we can now help people we previously had no way of helping.”

A revolution has led to more diagnoses

The development that has truly revolutionized the diagnosis of rare diseases is new methods for analyzing our genes.

Humans have around 21,000 genes, and in the past, it was necessary to examine each gene individually in order to identify the one linked to a patient’s disease.

Today, it is possible to analyze all genes at once – a process known as genome sequencing.

These comprehensive analyses, which have made Elsebet’s work significantly easier, began to be widely used in diagnostics five to ten years ago.

“At first, implementation was somewhat slow because the analyses were quite expensive. But in 2019, the Danish National Genome Center was established with the goal of conducting genome sequencing for 60,000 Danes – and suddenly we had the opportunity to assess many more patients,” says Elsebet.

Who will researcdisease?

The question is: How much difference does it make for patients to receive a diagnosis?

As mentioned, treatments are rare, but according to Elsebet, more and more genetic diseases are now seeing treatment development.

“It also means we can say something more precise about the patients’ prognosis,” she explains.

Another important factor is that many patients with rare diseases feel very alone. When they receive a diagnosis, they are better able to connect with others around the world – for example, through patient organizations – who share the same condition.

“It means a lot to patients to have someone they can relate to who has the same disease,” says Elsebet.

She explains that many patients with rare diseases often feel overlooked. There is significant focus on common diseases, and it is easy to feel forgotten when your diagnosis is rare.

"For many patients, treatment cannot cure the disease, but it can improve their symptoms."

As mentioned, the financial incentive to develop treatments for rare diseases is limited – but according to Elsebet, there are reasons for optimism.

“Technological advances mean that our methods are constantly improving, so even more people will be able to receive a diagnosis,” she says, and continues:

“There is also progress in treatment development. For many patients, treatment cannot cure the disease, but it can improve their symptoms. Gene therapy in particular is extremely expensive to develop, but fortunately it is an area receiving increasing attention.”

Life Science Talks on rare diseases

If you would like to learn more about rare diseases and Elsebet’s work, you can meet her at Life Science Talks on 5th of May. Here, Elsebet will speak in greater depth about rare diseases, how patients are assessed, the diagnoses she encounters, and current treatment approaches.