Blog Archives

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

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 needed for normal function in many human cell types.

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You cannot hide it: Your face tells all about your ID

January 08, 2019 – The interpretation of genetic variants after genome-wide analysis is complex in a selection of heterogeneous disorders which are at the base of a condition termed intellectual disability (ID). Generally, the cause of intellectual disability (ID) is unknown in about one-

third to one-half of cases. 

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Caplacizumab-yhdp (Cablivi): the first therapy for the treatment of aTTP

February 07, 2019 – The American Food and Drug Administration (FDA) just approved Caplacizumab-yhdp (Cablivi), the first therapy specifically indicated, in combination with plasma exchange and immunosuppressive therapy, for the treatment of adult patients with acquired thrombotic thrombocytopenic purpura (aTTP),

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Is there breast implant-associated cancer (BIA-ALCL)?

January 09, 2019 – Women should be alerted: Is there a thing like breast implant associated cancer (BIA-ALCL)? Yes, there is. Not every woman with a breast implant will get it, however. In fact, BIA-ALCL seems to be a rather rare condition; unfortunately,

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Migalastat (Galafold): New treatment for Fabry disease

January 12, 2018 – Fabry disease is an inherited disorder caused by mutations (alterations) in the alpha-galactosidase A (GLA) gene located on the X-chromosome. Fabry disease is rare and affects both males and females. It is estimated that classic Fabry disease (the most severe type) affects approximately one in 40,000 males.

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Blastic plasmacytoid dendritic cell neoplasm (BPDCN): Tagraxofusp-erzs (Elzonris) FDA approved

December 30, 2018 – Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive and rare disease of the bone marrow and blood that can affect multiple organs, including the lymph nodes and the skin and often presents as or evolves into acute leukemia. The disease is more common in men than women and in patients 60 years and older.

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CRISPR/Cas9 for the Treatment of Duchenne Muscular Dystrophy: Prime time already?

December 12, 2018 – The application of CRISPR/Cas9 based molecular technology in the field of gene editing (or genome editing) has recently had its exploded limelight exposure for a couple of reasons. The question arises if this exposure is earned or somewhat premature.

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First ever treatment for Lambert-Eaton myasthenic syndrome (LEMS) FDA approved

December 04, 2018 –  The American Food and Drug Administration (FDA) has just approved its first ever treatment, Amifampridine (Firdapse), for Lambert-Eaton myasthenic syndrome (LEMS), a rare autoimmune disorder for adult patients. LEMS affects the connection between nerves and muscles and causes weakness and other symptoms in affected patients. 

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Diabetes: No end to SGLT2-inhibitor drugs side effects

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 medicines called sodium-glucose cotransporter-2 (SGLT2) inhibitors.

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

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.

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  • Gene therapy corrects the cardiac effects of Friedreich's ataxia September 18, 2020
    Gene therapy was successfully used to overcome the cardiac effects of Freidreich's ataxia (FA) in a mouse model of the disease, as reported in the peer-reviewed journal Human Gene Therapy.
  • Algorithms uncover cancers' hidden genetic losses and gains September 17, 2020
    Understanding the specific mutations that contribute to different forms of cancer is critical to improving diagnosis and treatment. But limitations in DNA sequencing technology make it difficult to detect some major mutations often linked to cancer, such as the loss or duplication of parts of chromosomes.
  • Researcher finds keys to control the 'driver of cancer's aggressiveness' September 17, 2020
    'Do not erase.' 'Recycle me.' 'Free to a good home.' Humans post these signs to indicate whether something has value or not, whether it should be disposed of or not. Inside our cells, a sophisticated recycling system uses its own enzymatic signs to flag certain cells for destruction—and a different set of enzymes can remove […]
  • New cause of syndromic microcephaly identified September 17, 2020
    Greenwood Genetic Center (GGC) researchers, in collaboration with scientists from Belgium, Spain, and Italy, have confirmed that variants in LMNB1 cause syndromic microcephaly with variable short stature, intellectual disability, and other neurological symptoms. The findings are reported in the October issue of the American Journal of Human Genetics.
  • Time-restricted feeding improves health without altering the body's core clock September 17, 2020
    When it comes to metabolic health, it's not just what you eat, it's when you eat it. Studies have shown that one effective means of losing weight and tackling obesity is to reduce the number of hours in the day that you eat. Time-restricted feeding—otherwise known as intermittent fasting—has also been shown to improve health […]
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