Rare Disease Day
Today is the day of Rare diseases Like every February 28, we celebrate Rare Diseases Day, for this reason we want to tell you a story, at least curious.Alpha 1 antitrypsin deficiency has been linked to Chopin's death, and he also followed the path of the ancient Vikings. The rare disease that followed the path of the Vikings About 2,000 years ago, in
What is protein Z?
Protein Z is a genetic alteration "Almost all cases of DAAT are caused by a single mutation in the A1AT gene, known as the Z mutation". ¿What is its function? AATD, a genetic disorder that causes the lack of a protein made by the liver, which is released into the bloodstream. This protein is designed to protect body tissues from attacks by its own
The health effects of air pollution
Is the air we breathe important for our health?A study published in the Lancet Planetary Health offers important data on the health effects of air pollution.The estimated mortality burden attributable to air pollution has been determined for the first time in more than 1,000 European cities. The difficulty of determining ambient air quality The Health and Environment Committee of the European Respiratory
II Ibero-Latin American Forum of AATD
II Ibero-Latin American Forum of AATD On December 14, 2020, the II Ibero-Latin American Forum of DAAT (IBLA-AATD) took place.In this II Ibero-Latin American Forum on Alpha-1 Antitrypsin Deficiency, the current situation of diagnosis and treatment of AATD in our environment is addressed. However, given the pandemic situation, it has been held in virtual format. United for Advancement in Medical Research The Spanish
History of AATD
People who suffer from it have very low amounts of the protein Alpha 1 Antitrypsin. This protein is produced by our body, mainly in the liver, from there it passes into the blood and is distributed throughout the body. Its main function is to protect the lungs and other organs from some substances that can injure them, such as tobacco smoke,
Alpha 1 deficiency as a hereditary disease
Alpha-1 antitrypsin deficiency is a rare inherited disease The AAT gene consists of two alleles, which are passed from parent to child by simple, autosomal, and codominant Mendelian inheritance. Each child receives an allele from each of its parents. Normal alleles, present in 85-90% of individuals, are called M, and therefore a normal individual receives two M alleles (one from each parent),
Science Day: Genetic Treatments
Research on Genetic Diseases Today, November 10, 2020, we celebrate Science Day. We want to make special mention of the evolution in genetic treatments. Evolution in science Genetic therapy uses genetic material to treat diseases of this group, which, as we already know, Alpha 1 Antitrypsin Deficiency is part of it. This therapy tries to modulate cell function, being able to correct the deficiency
The first clinical trial begins to solve the folding of the liver caused by protein Z
The human trial begins, of the treatment that acts on the liver, due to the protein Alpha-1 Antitrypsin. Almost all cases of AATD are caused by a single mutation in the A1AT gene, known as the 'Z mutation'. Z Factor, the Cambridge-based drug development company, has administered the first human volunteer ZF874, their novel treatment for alpha-1-antitrypsin deficiency. (AATD). What about Alpha 1
The union of two pharmaceutical giants: Takeda and Arrowhead
Takeda and Arrowhead collaborate to develop and commercialize ARO-AAT Takeda and Arrowhead Team Up to Unveil Active Liver, Targeted to the Alpha-1 Community.“This agreement also supports the strategy of selectively partnering to continue investing in the targeted RNAi molecule (TRiMTM) platform".They also come together to manage the growing portfolio of RNAi therapeutics targeting various types of tissues. Both pharmaceutical companies, united for