Rare diseases

A 10-year-old girl is in a serious condition

The patients in the trial suffered from a genetic condition called autosomal recessive deafness 9 (DFNB9), which is caused by a mutation in a gene called OTOF

The government will fund medications and specialized foods for individuals over 18 with rare diseases, but eligibility hinges on starting treatment before adulthood. These changes, proposed by lawmakers from four parliamentary factions, are criticized by the non-governmental organization "Community Bridges Association" for being discriminatory.

The Health Ministry's plans for a stricter licensing framework regarding imports of innovative drugs into Greece has alarmed some 500,000 people with rare diseases, as well as their families.

Ljubljana – Slovenia is one of the leading European countries regarding newborn screening, experts said at a recent press conference ahead of today’s International Neonatal Screening Day, and stressed the importance of early detection of diseases.

The body cites higher risks of heart inflammation post-inoculation

Sladki Vrh – Due to restricted access to GPs over the past two years, half as many blood cancers have been diagnosed as before the Covid-19 epidemic, heard a roundtable on Tuesday mark Blood Disease Awareness Month.

The Palace of the Parliament will be illuminated in turquoise on Wednesday, on the occasion of Batten Disease Awareness Day.

Doctors in India are fighting a fatal fungal infection affecting COVID-19 patients or those who have recovered from the disease amid a coronavirus surge that has driven the country's fatalities to nearly 300,000.

Diagnosed with amyotrophic lateral sclerosis (ALS), a neuromuscular disease, Özlem Özalkan from northwestern Turkey plans to donate profits she earned from her book to homeless children and spend them for water wells in Africa.