#ScienceSaturday posts share relevant and exciting scientific news with the KAND community, and are compiled by Alejandro Doval. Alejandro is from Spain and serves as Team Leader of the KIF1A.ORG parent-led Research Engagement Team. Send news suggestions to our team at impact@kif1a.org.

What Is KIF1A?

Has your family recently received a KIF1A diagnosis? You’ve likely entered a whole new world of medical jargon and uncertainty. Complex scientific explanations about KIF1A rarely help families living with this diagnosis. We’re here to help. Here’s a short basic science introduction to KIF1A. No medical degree required.

Rare Disease News

A new biotechnology and pharmaceutical industry commitment to patients and the public

215 biopharma CEOs and industry leaders are backing a New Commitment to Patients that outlines their obligations to patients and guiding principles. The authors note:

“…we are at the dawn of a golden age of medicine. We will soon have the ability to treat and cure diseases that have long been untreatable and incurable. … we acknowledge that we have a moral obligation to develop the best medicines and ensure that every person who may benefit has access to them.”

As Daniel Levine of Global Genes noted, four of the six co-authors of the letter are CEOs of rare disease therapeutics companies. Here at KIF1A.ORG, we are thankful for these leaders and are proud to be part of the culture shift in the scientific industry that puts patients first. Read the full statement published in Stat.  

NHS England Using DNA Testing to Accelerate Diagnosis for Critically Ill Kids

The National Health Service (NHS) England is now providing access to whole exome sequencing that can “double the chance of a diagnosis and reveal what is wrong with patients in days rather than weeks.”

Sir Simon Stevens, chief executive of NHS England, said: ‘Over the next decade, the NHS will continue to expand the range of personalised, precision medicines, including rolling out genomic testing to all people with rare diseases and patients with cancer.’”

Over a dozen families from the UK are part of the KIF1A.ORG community. With these expanded resources, even more KIF1A families will receive the answers they need for better informed care. As our patient population grows, so does our urgent, unmet need for treatment.

With CRISPR Prime, gene therapies are one step closer to curing millions

“Advances in gene editing technologies have the potential to treat genetic diseases by directly editing DNA — but are incapable of making the precise DNA changes required to treat the wide variety of genetic diseases affecting humans. CRISPR prime editing may change that.”

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