Un bambino "farfalla" gioca a calcio

Su Nature, l’editoriale e sopratutto l’articolo del gruppo diretto da Michele De Luca, univ. Modena e Reggio Emilia, spiegano le speranze suscitate dalla correzione di un dei geni che, se difettoso, causa l’epidermolisi bullosa, una malattia atroce di cui soffrono circa 500 mila persone.

In June 2015, a seven-year-old child was admitted to the Burn Unit of the Children’s Hospital, Ruhr-University, Bochum, Germany. He carried a homozygous acceptor splice site mutation (C1977-1G> A, IVS 14-1G> A) within intron 14 of LAMB3. Since birth, the patient had developed blisters all over his body, particularly on his limbs, back and flanks. His condition deteriorated severely six weeks before admission, owing to infection with Staphylococcus aureus and Pseudomonas aeruginosa. Shortly after admission, he suffered complete epidermal loss on about 60% of his total body surface area (TBSA). During the following weeks, all therapeutic approaches failed and the patient’s short-term prognosis was unfavourable.

Il comitato etico ha approvato la terapia con un protocollo compassionevole. Quando è iniziata, al bambino restava il 20% della pelle. I ricercatori hanno corretto il gene LAMB3 inserendo con un virus quello giusto nella manciata di staminali che gli avevano prelevato, le hanno clonate e cresciute in vitro ottenendo lembi di pelle che gli sono stati trapianti in due interventi.
La novità scientifica, scrivono Aragona & Blancpain, riguarda le cellule che hanno “amalgamato” la pelle cresciuta in vitro con gli strati del derma, il comportamento in vivo delle staminali insomma, e quindi gli “end-points”, i marcatori con quali misurare i risultati durante un esperimento clinico.

The patient was discharged in February 2016. His epidermis is currently stable and robust, and does not blister, itch, or require ointment or medications. Ten punch biopsies were taken randomly, 4, 8 and 21 months [circa 20 cicli nei quali l’epidermide si rinnova] after grafting. The epidermis had normal morphology and we could not detect blisters, erosions or epidermal detachment from the underlying dermis.

Il paziente non è mai nominato, le sue foto da écorché e poi avvolto in un reticolo di cicatrici sono pubblicate con il consenso dei genitori, ma da ieri sera in tutto il mondo si parla di Hassan, il piccolo profugo siriano inseguito dalla morte. Rif. ScienceThe Guardian, BBC, Ed Yong per The Atlantic, NT TimesDie Zeit, Le Scienze
Michele De Luca è quello della terapia Holoclar contro una forma di cecità, che sostituisce la cornea, per l’epidermolisi bullosa giunturale ha dovuto pazientare a lungo:

He chose JEB for his first clinical trial, which he registered with the Italian Medicines Agency in 2002. Four years later, he reported his first success, in which he created healthy skin patches from biopsies to replace small areas of sloughed-off skin on the legs of a patient with a form of JEB (F. Mavilio et al. Nature Med. 12, 1397–1402; 2006). New European Commission regulations introduced in 2007 required him to pause the project while he created facilities adhering to ‘good manufacturing practices’ (GMPs) and a spin-off company to meet the demands for strengthened oversight of cell-based therapies.

***

In mezzo ad altre foto che vedono su uno schermo, le pecore riconoscono di più quella di Emma Watson, scrivono Franziska Knolle et al. su Royal Society Open Science:

Figure 4.

Ma riconoscono il volto di una persona o imparano a distinguere tra le foto?

Another interpretation of our data in the test-probe is that the high performance is an effect of rapid learning. We do not think, however, that an explanation of rapid learning is sufficient to explain our findings. Each tilted face is only presented once, yet the performance of the sheep over the whole session (12 presentations of the familiar faces in three orientations, plus three presentations of the image of the very familiar face) is significantly above chance. While rapid learning might be an explanation for the high performance in the detection of the very familiar face (the handler) because that was presented three times, recognition of a very familiar face (the handler) seems to be the more likely criterion on which they possibly base their choice decision.

Perché sono abituate ad aver intorno tanta gente?

One could also argue that the general domestication of sheep contributes to their abilities to recognize humans. However, the breed of our sheep, Welsh Mountain, is not one of the more easily managed/tamed breeds. Indeed, they are characterized by their ability to survive independently of human support in the harsh environments in mountain areas.