Michael Abramoff
July 1, 2021FDA Updates – July 2021
AI app “Face2Gene” can detect rare genetic disorders, Nanomedicine and QuantX AI in Cancer and applications of AI for treating Alzheimer's disease...
Artificial Intelligence app “Face2Gene” to detect rare genetic disorders
Rare genetic disorders can be identified by analyzing images of people’s faces using a smartphone app powered by artificial intelligence. Following an image upload to the Face2Gene platform, the algorithm examines landmarks on the patient’s face, for example, the shape of their face, eyes, nose, and mouth.
The app creates a list of approximately ten genetic mutations as a potential diagnosis and creates personalized care plans based on the information. It was designed by the US biotech company Facial Dysmorphology Novel Analysis (FDNA), which considers the technology will help prevent patients from experiencing lengthy waits and making repeated clinic appointments before a conclusive diagnosis. This will give them a greater chance of receiving the appropriate treatment early on.
FDNA has now published results from a milestone investigation, in which they determined that facial analysis led to identifying the ten most frequent disorders of this type with 91% precision across 502 images. For diseases such as Noonan syndrome, it was 44% more precise than human clinicians.(1,2)
Cancer nanomedicine
Nanomedicine has the goal to diagnose, monitor, and treat diseases by maintaining a therapeutic dose at the target site. An example of this are injectable liposomal preparations and nanoparticle formulations coated with navigating ligands that can greatly enhance drug accumulation at the tumor site. For example, doxorubicin-loaded liposomes further overcoated with an analog of blood clotting factor XIII significantly (40-fold) increased drug collection at the neoplasm site. These multifunctional nanomedicines are expected to defeat the challenges associated with traditional malignancy therapy.(3)
QuantX Artificial Intelligence Breast Cancer Diagnosis System
The first-ever FDA-cleared computer-aided breast cancer diagnosis helps radiologists assess and characterize breast abnormalities using magnetic resonance image data. The software automatically registers image segments and analyzes user-selected regions of interest (ROI) by an artificial intelligence algorithm into a single value, the QI score, which is then analyzed and compared to a reference database of abnormalities with known ground truth information.
In a clinical study, Quantx helped radiologists interpret MRIs and differences between cancerous and noncancerous breast lesions. The software led to a reduction of 39% in missed breast cancer and a 20% overall diagnostic improvement.(4)
Neurotherapeutic applications of nanomedicine for treating Alzheimer's disease
Alzheimer’s disease (AD) is a progressive, irreversible, and fatal brain disease that disturbs cognitive function. Brain drug nanomedicine is a promising approach to improve brain target specificity, bioavailability, and compliance.
After the administration of Nanoparticles (NPs) coated with polysorbate 80 (PS-80), they accumulate in the brain capillaries. This retention, along with adsorption on the walls of capillaries, builds up a concentration gradient which makes the NPs pass through the endothelial cell layer.
The endothelial cells endocyte the particles and, subsequently, release the drug within the brain cells. When located in the bloodstream, they adsorb apolipoproteins (E/or B) mimicking low-density lipoproteins. The blood-brain barrier contains LDL receptors with whom they interact and are internalized by receptor-mediated endocytosis.(5)
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