#ScienceSaturday posts share relevant and exciting scientific news with the KAND community. This project is a collaboration between KIF1A.ORG’s Research Engagement Team Leader Alejandro Doval, President Kathryn Atchley and Science Communication Director Dr. Dominique Lessard. Send news suggestions to our team at firstname.lastname@example.org.
Save the Date for “The Gene”
The KIF1A.ORG community and our mission to find a cure for KIF1A Associated Neurological Disorder will be highlighted in The Gene: An Intimate History on PBS. This Ken Burns documentary weaves together science, history and personal stories for a historical biography of the human genome, while also exploring breakthroughs for diagnosis and treatment of genetic diseases, and the complex ethical questions they raise.
The Gene: An Intimate History
Tune in or stream Tuesday, April 7 at 8/7c on PBS
Here’s an advanced clip featuring KIF1A.ORG co-founder Luke Rosen explaining our urgent quest to build the KIF1A community.
Rare Disease News
Evolved Base Editor Surpasses Predecessors with High Efficiency and Versatility
The discovery of genomic base editors, like the commonly referenced CRISPR technology, introduced a new type of powerful gene editing machinery to the scientific and therapeutic world. To improve and expand the capabilities of these technologies, researchers are continuously searching for ways to make gene editing machines more efficient. This article summarizes a recent advance regarding a type of gene editing machinery (ABEs), led by Dr. David Liu’s team at the Broad Institute of MIT and Harvard. Specifically, this team has increased the gene editing efficiency and specificity of ABEs, surpassing the editing capabilities of previous ABE models.
“…this study and many additional innovations in base editing from other labs around the world demonstrates that the base editing field continues to tailor these molecular machines to offer increasingly powerful and therapeutically relevant properties.”
AveXis’ Zolgensma gene therapy yields desired results in SMA trials
A gene therapy known as Zolgensma has yielded encouraging results for patients with spinal muscular atrophy (SMA). This treatment is currently FDA-approved for patients as young as under two years of age that meet specific diagnostic criteria. “According to Novartis, interim data from the SPR1NT trial showed presymptomatic babies with spinal muscular atrophy treated with the gene therapy soon after their birth could achieve age-appropriate motor milestones.”
Gene therapy shows promise for a disease that steals young men’s vision
X-linked retinitis pigmentosa (X-linked RP) is a genetic disease, caused by a mutation on the X chromosome, that leads to progressive vision loss and blindness in young men. In an attempt to improve the visual fields of X-linked RP patients, Dr. Robert MacLaren’s group at the University of Oxford has used gene therapy guided by an adeno-associated virus (AAV) to introduce a replacement of the defective gene. This is the first retinal gene therapy clinical trial for X-linked RP, the early results of which are described in this article.