THE FUTURE OF EPIGENETIC THERAPIES

 
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There are well over 6,000 known genetic disorders, and new ones are constantly being described in medical literature. Scientists estimate that a majority share involve splicing mutations, either through direct mutation of the splice-site signals or through disruption of other components of the splicing pathway .

 

We focus on harnessing and utilizing the spliceosome machinery for modulating and correcting ribonucleic acid (RNA) transcript splicing and other post-transcriptional processes. Our platform technology, which is referred to as ASMO - Aptah Spliceosome Modulation Oligonucleotide, provides a unique and powerful therapeutic approach to treating various diseases associated with gene dysregulation.

Compared with the existing splicing-modulating small molecules or oligonucleotides, the ASMO technology goes beyond merely inhibition or suppression of aberrant gene expression and has the potential of restoring and reprograming the dynamic cascade of multiple RNA-protein interactions catalyzed by the spliceosome, including excision of introns and ligation of exons.

For example, the ASMOs may be deployed to specifically bind a pre-mRNA at multiple intron-exon junctions, where each ASMO recruits and stabilizes a spliceosome assembly at a pre-determined splicing site, thereby correcting aberrant splicing of the target pre-mRNA and reducing subsequent expression of proteins prone to misfolding or pathogenic aggregation. Neither RNAi- nor ASO-mediated knockdowns are capable of more generally addressing gene expression issues stemmed from aberrant transcript splicing or other post-transcriptional events.

  1. Wang & Cooper 2007

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Multigenic
Platform

The molecules can be designed to address different genetic disorders.

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Multi-Base
Action

The same molecule specifically bind a pre-mRNA at multiple intron-exon junctions, with no off targets.

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Control of Gene Expression

The molecules can be adjusted to precisely control the gene expression.

NEURODEGENERATIVE DISEASES

Our first target is the MAPT gene, which produces 6 isoforms of TAU, a protein that plays a fundamental role in maintaining brain cells healthy. Tauopathies are neurodegenerative disorders characterized by the deposition of abnormal tau protein in the brain, derived from RNA mis-splicing, resulting in transcriptome perturbations that are implicated in Tau-mediated neurodegenerative mechanisms.

Tauopathies encompass more than 20 clinicopathological entities, including Alzheimer's disease, the most common tauopathy, progressive supranuclear palsy, Pick's disease, corticobasal degeneration and post-encephalitic parkinsonism , affecting millions of people worldwide. To date, there are no approved and established pharmacologic treatment options for tauopathies.  

Aptah has developed a novel molecule that is able to ensure the correct binding of the pre-transcriptional proteins (U1 Complex) at multiple intron-exon junctions of the pre-mRNA, thus avoiding abnormal forms (instability and unbalance) of TAU and its neurofibrillary tangles (aggregation), a common cause to all Tauopathies.

 

THE MOST EXPECTED MOLECULAR DIAGNOSTIC SOLUTION

Fast. Affordable. Easy-to-Use. Accurate. Point-of-Care.

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Aptah develops molecules that are designed to bind to specific genetic targets and combines them with a patented nanoparticle sensor technology to create unique diagnostic tests.

Our molecular diagnostic tests does not require any special hardware (no amplification nor heating / isothermal), generate results within 2-7 minutes, and are very affordable.

Our COVID-19 Aptah Test is a very accurate Point-of-Care molecular screening test that can be produced for less than a dollar, and delivers results in 2-7 minutes with 99.5% specificity and 97.5% sensitivity*. Further diagnostic solutions are being developed for neurodegenerative, oncological and infectious diseases in partnership with major global players in order to explore the full potential of our patented technology platform.

* = Nasal swab compared with RT-PCR.

 

MEET THE TEAM AT APTAH BIO

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Rafael Bottos

Co-Founder & CEO

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Tatyana
Hayasaki

Scientific Assistant

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Caio Bruno Leal

Co-Founder & CSO

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Prof. PhD Mario
H. Bengtson

Scientific Advisor

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Jonas Sister

Corporate
Development Advisor

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Prof. PhD Katlin
B. Massirer

Scientific Advisor

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Patrick Nielson​

Legal Advisor

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Prof. PhD Oswaldo Keith Okamoto

Scientific Advisor

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DISCOVER THE SCIENCE
BEHIND OUR RESEARCH

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Tau-Mediated Disruption of the Spliceosome Triggers Cryptic RNA Splicing and Neurodegeneration in Alzheimer’s Disease

 

Hsieh et al., 2019, Cell Reports 29, 301–316

Published: October 8, 2019

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Role of Tau Protein in Both Physiological and Pathological Conditions

 

Avila, Jesús, José J. Lucas, Mar Pérez,

and Félix Hernández.

American Physiological Society

Volume 84 Issue 2 April 2004

Pages 361-384

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MAPT Isoforms: Differential Transcriptional Profiles Related to 3R and 4R Splice Variants

 

Chen, Shufena | Townsend,

Kirka | Goldberg, Terry E.a | Davies, Petera; b | Conejero-Goldberg, Concepciona;

Journal: Journal of Alzheimer's Disease

Vol. 22, no. 4, pp. 1313-1329, 2010

Published: 7 January 2011

 
 
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