Excited to return to Phila. with B.Labs, a therapeutic co. incubation site for emerging and growth stage Tx cos. Thanks to Drs. E. Blankenhorn (Drexel) and K. Saatman (UPenn/U.Kentucky) for getting me started in Phila. years ago. https://t.co/QdbmfJecwD
Thrilled to share our work on the pathological mechanisms at the basis of the terrible Schinzel-Giedion Syndrome. Kudos to the incredible Federica Banfi and all the colls @zaghino@lucamassimino@broccoli_lab. Big thanks to @SanRaffaeleMI@foundation_sgs https://t.co/vkpJao0kIH
@sciencescanner Equally fascinating pathology in SETBP1 mutations: germline mutations in a 12bp region of SETBP1 are causative for Schinzel-Giedion Syndrome (neurodev disorder). Identical somatic SETBP1 mutations found in aggressive MDS/MPNs (https://t.co/kpV9Ofymlp).
@rtnarch Hoping to see this happen in Phila. with initiatives creating a local workforce in the cell and gene therapy industry. Love to see West Philly and beyond put a dent in that perpetual 25% below the poverty line in the city.
Maria and Daren are a husband and wife team running 26.2 miles in the London Marathon on October 4th. Maria has been Ophelia's teacher for the last 5 years so SGS is close to Maria's heart. All the money that Maria and Daren raise will support SGS.
https://t.co/CK20oliHRr
For runners out there or those with a charitable inclination, our Patient Fdn. is raising funds to augment ongoing research efforts in Schinzel-Giedion Syndrome via a wonderful couple's (virtual) London Marathon ambitions: