3rd International meeting of “Recent Advances in Rare Disease – RARD: frequently misdiagnosed hereditary disorders (FREMIDIS)”

This year's third meeting of the "Recent advances in rare diseases" (RARD) conference took place in Bogotá, the capital of Colombia. The main focus of the conference was the misdiagnosed heredity disorders and multidisciplinary translation research impact on global clinics. Dr. Arndt Rolfs (CEO) of CENTOGENE opened the conference with a very interesting talk on how to “un-rare” rare diseases. He discussed the emerging approaches for the therapy of rare diseases such as Enzyme Replacement Therapy (ERT), Ab immunotherapy, proteins, gene therapy, stem cells, regenerative medicine, RNA bases therapies, and small molecules. Due to these new developments, the diagnosis of rare disease patients becomes of utmost importance. Large scale multiple tier screening is needed for the correct diagnosis of rare diseases patients. Also, Mia Horowitz from Tel Aviv University discussed the use of ambroxol, a pharmacological chaperone, to rescue the signs of Parkinson. On Friday,20th June, the conference finished with some other interesting talk and in the evening we had the opportunity to visit ‘The Gold Museum’. A short welcome speech was given by a representative of the museum followed by the museum's collection.

During the next two days, strategies and challenges were discussed for translation research and clinical implementation of screening for hereditary disorders. A whole session was assigned for unsolved cases where clinicians presented undiagnosed cases. For many rare hereditary diseases, the genetic cause is still unclear, and several examples highlighted that there are still many challenges ahead for diagnosing them. Collaborative research and development of novel technologies and approaches are key to overcome these challenges.

We enjoyed the talks as well as the lively exchange with other experts in the field of human genetics during the breaks and the daily trips in the late afternoon. Ilyas and Loreto got the chance to present their work as posters. In addition, Loreto was selected to present her work in a short presentation in front of the audience.

Taking advantage of the long trip to South America, Loreto took the opportunity to visit her family in Chile for two weeks prior to the conference. While Matthias organized two hikes for himself; one to ‘El Cocuy National Park’ and the other to ‘The Lost City’ and he explored Colombia’s nature and history first hand.

The RARD conference was organized by Centogene, a German company that develops genetic tests for the early diagnoses of rare hereditary diseases based on a database containing the genetic information of >120,000 patients.

For now, we’ll be looking forward to an equally stimulating program in Cape Town, South Africa for 2020!

Fun times: (starting top left1. As a very Catholic country, many ornate churches were found |  2. We also had the change to visit the famous Fernando Botero museum filled with his characteristic art style such as Mona Lisa painted in 1977. | 3. In the Gold Museum, you can find ‘La Balsa Muisca’ – local Muisca indigenous people - a pre-Spanish Muisca culture’s ritual of bathing a new chief in gold dust which gave rise the El Dorado myth | 3. ‘La Plaza de Bolíver’ is the main square of Bogotá which dates back to the pre-Colombian era. | 4. Characteristic ‘green-filled’ view of Bogotá | 5. Even during the flight, we could see the famous Andes Mountains, the world’s longest continental mountain range | 6. Using a funicular railway route we were able to visit the mountain of “Cerro de Monserrate” at night showing the unparalleled view over Bogotá city.

Time for work: (starting top left) 1. Loreto’s oral presentation | 2 & 3.  ICG members posters | 4 & 5. Making friends with fellow academic attendees. | 6. Abstract book with organized tours.