First transmission of a rare genetic disorder detected in Catalonia through anonymous sperm donation
A rare genetic disorder has been identified in Catalonia, transmitted via anonymous sperm donation, with three identified carriers so far.
Union disobeys court decision, and boy with rare disease has been without R$ 90,000 medication for 6 months, says family
A family from Belo Horizonte accuses the Brazilian federal government of not complying with a court order to provide a costly medication for their son, who suffers from a rare genetic disorder.
What is and how to treat neurofibromatosis, the disease that actor Adam Pearson has
The article discusses neurofibromatosis type 1 (NF1), a genetic disorder highlighted by actor Adam Pearson during the 2026 Oscars, focusing on its effects and treatment options.
Grandmother, sons, and granddaughter - a Sudovian family suffers from a rare Fabry disease
A family from Sudovia faces challenges due to Fabry disease, a rare inherited metabolic disorder.
What is Angelman syndrome, the rare genetic disorder that alters neurological development from childhood
Angelman syndrome is a rare genetic disorder that significantly alters neurological development from childhood, with many cases diagnosed incorrectly or delayed despite advances in molecular diagnostics.
Skin as delicate as a butterfly wing: six-month-old Emma needs an additional 142,000 euros for ongoing treatment
Six-month-old Emma, suffering from a severe genetic skin condition, requires an additional 142,000 euros for her ongoing treatment, which includes a new gene therapy that can significantly help her condition.
Star of the Lions and spouse: crushing news from the doctor - 'Super rare'
Emil Larmi, a Finnish ice hockey goalkeeper, and his wife Annika revealed on Instagram that they are both asymptomatic carriers of a rare genetic disorder that could lead to severe complications in their future pregnancies.
Sad publication from Annika Larmi
Annika Larmi announces on Instagram that she and her husband Emil Larmi are at risk of passing a genetic disorder to their future children.
'My son won't survive his teens - being told nothing can be done is a shock'
A mother reveals her shock at her son Frankie being diagnosed with a rare genetic disorder that doctors say is unlikely to allow him to survive past his teens.
"It is a torture not to feel pain": the daily life with the difficult condition of congenital analgesia
The article discusses Steve Pete's life with congenital analgesia, a rare genetic disorder that prevents him from feeling pain, highlighting the serious risks and challenges he faces.
Inés Moreno, traumatologist: 'In osteogenesis, the body does not produce quality collagen'
Inés Moreno discusses the medical condition of the mythological warrior Ivar Ragnarsson from the series 'Vikings', specifically focusing on osteogenesis imperfecta, a genetic disorder that causes brittle bones.
Neurofibromatosis: mother and daughter in ParaÃba live with a rare disease that spans generations: 'People distance themselves from us, but I entrust it to God'
A mother and daughter from ParaÃba, Brazil, are facing the challenges of neurofibromatosis, a rare genetic condition that affects their lives and health.
The rare neurogenetic disease where a child's smile hides a diagnosis
The article discusses the rare Angelman syndrome, a genetic condition recognized for its joyful smile but presents significant challenges, particularly in Argentina.
OVERVIEW › The British National Health Service orders to stop preventing marriages between first cousins
The UK's NHS has instructed its staff to cease the prevention of marriages between first cousins, citing minimal additional risk of genetic disorder in children from such unions.
Mum loses husband and son to same rare one-in-70,000 genetic condition
Amber Selvey is advocating for awareness of Alagille Syndrome after the tragic deaths of her husband and son, both affected by the rare genetic disorder.
Sudanese family struggles to treat their son suffering from a rare genetic disease
The article highlights the struggles of a Sudanese family to obtain gene therapy for their son Imad, who is affected by Duchenne muscular dystrophy, a severe rare genetic disorder in children.