01 September 2018 – The American Food and Drug Administration (FDA)  is warning that cases of a very rare but serious infection of the genitals and area around the genitals have been reported with the class of type 2 diabetes …

Diabetes: No end to SGLT2-inhibitor drugs side effects Read more »

August 14, 2018 – The American Food and Drug Administration (FDA) just approved Patisiran (Onpattro) infusion for the treatment of peripheral nerve disease (polyneuropathy) caused by hereditary transthyretin-mediated amyloidosis (hATTR) in adult patients. This is the first FDA-approved treatment for …

Patisiran (Onpattro): First targeted RNA-based therapy approved to treat hATTR Read more »

June 26, 2018 – The American Food and Drug Administration (FDA) just approved Cannabidiol (Epidiolex), for the treatment of seizures associated with Lennox-Gastaut syndrome and Dravet syndrome, two rare and severe forms of epilepsy, in patients two years of age …

Epidiolex: Marijuana-derived drug to treat rare forms of epilepsy Read more »

Dezember 21, 2017 – Erdheim–Chester disease ((ECD), also known as Erdheim–Chester syndrome or polyostotic sclerosing histiocytosis) is a form of a bone marrow borne blood cancer. It is a rare disease characterized by the abnormal multiplication of a specific type …

Vemurafenib (Zelboraf) for BRAF V600E positive Erdheim-Chester Disease (ECD) Read more »

December 21, 2017 – No pain on gain. This headline might not at all apply for this Italian family. In a paper just published in the Journal Brain, researchers describe  a mysterious genetic mutation that effectively negates the sensation of …

Marsili Syndrome: A mutation in the ZFHX2 gene leaves Italian family painless Read more »

December 20, 2017 –  The American Food & Drug Administration (FDA) has just approved  a novel gene therapy to treat patients with a rare form of inherited vision loss. Voretigene Neparvovec-Rzyl (Luxturna) is the first directly administered gene therapy approved to …

Voretigene Neparvovec-Rzyl (Luxturna): Gene therapy to treat inherited vision loss Read more »

 December 16, 2017 – As recent as of December 14, 2017, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) has adopted a positive opinion, recommending the granting of a conditional marketing authorisation for the …

X-linked Hypophosphatemia: Burosumab (Crysvita) to the rescue Read more »

November 23, 2017 – We all have heard of it: While in full action of the game, a young soccer player collapsed on the field and died. Same for a seemingly healthy and very competitive marathon runner. A shocking and …

The nightmare: Sudden cardiac arrest in competitive sports Read more »

August 07, 2017 – Humans become reparable like a broken car in the body shop: For the first time, scientists have corrected a disease-causing mutation in early stage human embryos with gene editing (or genome editing). By doing so, researchers …

Body shop: First repair of single-gene mutation in human embryos Read more »

March 25, 2017 – The Boston-based start up company FDNA has launched an app-based tool for clinicians using facial recognition, artificial intelligence (AI) and genetic big data to improve rare disease diagnosis and treatment. If it were not for an incredible …

Face2Gene: tool using facial recognition, AI and genetic big data to improve rare disease diagnosis and treatment Read more »