#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 Chief Science Officer Dr. Dominique Lessard. Send news suggestions to our team at email@example.com.
We Are Hiring!
Perhaps against all odds, 2020 has been a year of growth for the KIF1A community. As our community grows, so do our needs and opportunities. We’re expanding the team at KIF1A.ORG to help continue driving this momentum. Thanks to financial support from the CZI Rare As One grant, we’ve created two new part-time positions at KIF1A.ORG:
Science Communication Associate: The KIF1A.ORG Science Communication Associate is responsible for assisting the KIF1A.ORG Chief Science Officer in the day-to-day operations of the organization’s scientific operations, including communications; administration; project management; and scientific investigation.
Administrative Manager: The KIF1A.ORG Administrative Manager is responsible for assisting the KIF1A.ORG President in the day-to-day operations of the organization, including the areas of fundraising and development; administration; and marketing and communications.
Recent KIF1A-Related Research
Clinical and genetic features of PEHO and PEHO-Like syndromes: A scoping review
This week we are featuring a review on Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome, a rare genetic neurodegenerative disease associated with cerebellar atrophy. Beyond cerebellar atrophy, common symptoms of PEHO syndrome are seizures, hypotonia (decreased muscle tone), intellectual disability, and optic atrophy among others. If this list of symptoms is sounding familiar to you, this may be because PEHO syndrome and KAND can overlap a lot in terms of clinical diagnostic criteria.
The goal of this review article is to “summarize and discuss common clinical and genetic features of these syndromes to help future researchers.” While the key clinical features are discussed heavily, the authors also dive into the genetic features of PEHO and PEHO-like syndrome. Notably, KIF1A is a part of this conversation with two specific KIF1A variants being discussed, T99M and E253K. Like many rare disease, and like we discuss throughout this week’s edition of Science Saturday, diagnosis based on clinical features is a challenge for PEHO syndrome, highlighting the need for genetic-based diagnostic testing.
“These findings highlight the necessity of evaluating several genes by performing whole-exome sequencing or whole-genome sequencing for a comprehensive diagnostic work-up. Future genetic studies could help unravel various dimensions of this challenging group of diseases and a better understanding of the molecular mechanisms associated with these disorders.”
Rare Disease News
KIF1A Now Featured on Invitae Cerebral Palsy Spectrum Disorders Panel
One of the most challenge aspects of rare disease treatment is often rooted in one of the earliest steps in the process: diagnosis. For many genetic-based rare diseases like KAND, an accurate diagnosis is heavily linked to access of genetic testing. Genetic testing can be conducted in a few ways. One way is to sequence (read) and look for pathogenic variation in every protein in the body. This can come in the form of whole exome or whole genome sequencing. Another technique that is often more accessible for patients is a targeted sequencing panel that sequences a specific set of genes known to contain pathogenic mutations of a certain disease. Recently, the KIF1A gene has been added to Invitae’s targeted sequencing panel for cerebral palsy (CP). Because nearly 1 in 4 KAND superheroes are initially diagnosed with CP, this is a huge win! Once given the correct diagnosis, KIF1A families can connect to a relentless community of families, researchers and clinicians dedicated to improving care and discovering treatment. KIF1A is also included on many other panels from Invitae. Click the button below to see them all!
Cerebral Palsy Also Has Genetic Underpinnings
In support of the discussion above, this article highlights how the link between genetic mutations and cerebral palsy (CP) is growing stronger and stronger. The causes of cerebral palsy have been debated for quite a while, often speculated to be centered around complications during the childbirth. However, what about the children who did not experience these events yet start exhibiting signs of CP? This motivated researchers to look further into the genetic basis of CP. While this article discusses two specific genes, FBOX31 and RHOB, there are many known genes associated with CP, as mentioned above. Broadening our thought process around CP and neurodevelopmental disorders is a key tenant for improving diagnosis and finding effective treatment.
“We are continuing to study cerebral palsy patients and their parents, and as our sample size increases, we may begin to be able to measure the contributions from less common recessive and dominant mutations passed down from one or both parents. This study provides clues to where we can begin to design treatments. Our genetic understanding of cerebral palsy is still in its earliest phase — we’ve just scratched the surface with this study. We look forward to continuing this research to better understand what causes cerebral palsy so we can find ways to prevent or treat it.”
SAREPTA REPORTS SUSTAINED FUNCTIONAL IMPROVEMENT TWO YEARS AFTER TREATMENT WITH SRP-9001 GENE THERAPY
It has been two years since Duchenne Muscular Dystrophy clinical trial patients received a gene therapy treatment called “SRP-9001” and things are looking good! In fact, after just one infusion of this therapy, patients are still seeing improvement years later. With gene therapy being a comparatively new form of treatment, there is significantly less known about how this type of therapy will work over the course of time. These measures of progress from trials such as this give scientists a very helpful type of data: longitudinal data. This is a form of data collection that tracks the same sample (or individual) over time. These time points of reference are extremely useful in the rare disease community from natural history studies to clinical trials. Check out the video below to learn more about how longitudinal data is used to inform research studies!