April 12, 2020 – The human genetic disease neurofibromatosis type 1 (NF-1) is a complex multi-system disorder caused by the mutation of a gene  (NF1 gene) on chromosome 17 that is responsible for production of a protein called neurofibromin which is …

First therapy for children with debilitating NF-1 approved in the USA Read more »

October  02, 2017 – Seemingly incurable childhood brain tumor is one of the most devastating clinical diagnosis a young patient and her/his family can get. For many, the associated sufferance is close to unbearable. A better understanding of the underlying biology …

Childhood brain tumors: Genetic variability amenable to individualized therapy approaches Read more »

April 04, 2017 – Personalized medicine, also referred to as precision medicine, incorporates the individual patient’s characteristics into treatment, rather than relying on population means. Over the past several years, it has become a significant focus for research. Developments in pharmacogenomics, …

Children: Is there personalized medicine for children too? Read more »

February 13, 2017 – If you are obese (or plain out fat), can you blame it on your genes? Actually, in very many cases, the answer is a qualified yes. Or a maybe. Under certain circumstances. Researchers are moving towards …

If you are obese, can you blame it on your genes? Read more »

September 22, 2016 – The pharmacologically active compound known as sildenafil is largely used to treat erectile dysfunction (on the market for this indication under the trade name Viagra) and pulmonary arterial hypertension (on the market for this indication under the trade name Revatio) in …

Granpidam: A generic to Sildenafil (Revatio) Read more »

April 18, 2014 – Have you ever heard of Mucopolysaccharidosis Type IVA (Morquio A syndrome)? Most probably not.  And I would also think that only very few people are familiar with the “Rare Pediatric Disease Priority Review Voucher Program” by …

FDA approves Elosulfase Alfa [Vimizim] to treat the rare congenital enzyme disorder Mucopolysaccharidosis Type IVA (Morquio A syndrome) Read more »