The first anniversary of the establishment of the National Centre for Rare Diseases in Qatar provided the focus of the third Doha–Heidelberg Research Conference on Rare Diseases, hosted by Hamad Medical Corporation (HMC) and Heidelberg University Hospital (HUH).

HMC and HUH have achieved a highly effective partnership in clinical services, training, education, and research. Dr Saad al-Kaabi, chairman of the International Medical Affairs Office at HMC, chair of the Doha–Heidelberg Research Conference and chair of the Rare Disease Multidisciplinary Team and Research Committee said the two-day annual conference is a strategic deliverable of the long-standing collaboration between the two organisations.

“We have had a strong partnership with Heidelberg University Hospital for many years. Each year that we work together results in new achievements and accomplishments for HMC and our patients,” said Dr al-Kaabi.

“The wide-ranging benefits of our partnership include the provision of specialist clinical services as well as training for HMC physicians, and education and research through site visits and annual symposia that support the exchange of experiences and knowledge,” added Dr al-Kaabi.

One notable achievement of the HMC-HUH collaboration was the establishment of the National Centre for Rare Diseases in Qatar, announced in February 2019. The centre, the first of its kind in the Middle East, is the main point of contact for many patients with rare diseases. Through expert multidisciplinary teamwork between HMC and HUH, the centre aims to support the diagnosis and management of patients with rare and complex diseases. In addition to providing clinical care, the National Centre for Rare Diseases in Qatar also supports state-of-the-art research and provides education to local clinicians in the management of rare diseases.

Dr Reem al-Sulaiman, interim deputy chair, Medical Genetics Department, HMC and assistant chair of the Rare Disease Multidisciplinary Team and Research Committee explained: “We aim to improve the lives of people living with rare diseases in Qatar and the region; and through joint exploration with the Heidelberg team, we can contribute to and promote the latest developments in rare disease research.”

Another achievement accomplished in the past year was the establishment of the new HMC Medical Genetics Department. The establishment of this new department has centralised all genetics subspecialties across HMC, providing more effective clinical genetics services and enabling more efficient pooling of resources. In addition, the department offers training in medical genetics and genetic counselling and specialised research opportunities for Qatar and the region.

The long-standing collaboration between HMC and HUH in the field of newborn screening also provided an optimal framework to construct a pioneering research project ‘Genomic Newborn Screening’, a novel and innovative screening to detect genetic disorders earlier, enhancing prevention opportunities through early diagnosis and treatment.

The conference’s keynote presentation was delivered by professor Dr Annette Grüters-Kieslich, medical director and chair, Executive Board of the Medical Faculty of Heidelberg University Hospital, who outlined the collaboration and future research opportunities between Qatar and the German Centre for Rare Diseases.