Fields of interest

Angelman syndrome

A report describing AS was published in 1965 by a British pediatrician Harry Angelman. AS is a genetic disorder causing neurodevelopmental disease with a conserved and recognizable set of symptoms. Most often, AS is characterized with serious intellectual disability (complete lack of speech and decreased cognitive performance), happy demeanor with easily provoked laughter, movement and balance disorders (ataxia). Among common symptoms are seizures, that start in early childhood; notably, AS shows a characteristic electroencephalographic pattern. Finally, children with AS have sleeping disorders and disrupted circadian rhythm. Less often symptoms include microcephaly and body dysmorphia, gastrointestinal tract disorders, and hypopigmentation. Features, resembling autistic-spectrum disorders, could be observed in people with AS.

Read more

Beta-propeller Protein-Associated Neurodegeneration

BPAN (Beta-propeller Protein-Associated Neurodegeneration) is a rare genetic neurological disorder characterized by early developmental delay followed by progressive neurodegeneration later in life. It belongs to a group of disorders known as Neurodegeneration with Brain Iron Accumulation (NBIA), in which excessive iron gradually accumulates in specific regions of the brain. BPAN is caused by pathogenic variants in the WDR45 gene, which plays an essential role in autophagy—the cellular process responsible for recycling damaged proteins and organelles.
Symptoms usually begin in infancy or early childhood with global developmental delay, intellectual disability, limited or absent speech, hypotonia (poor muscle tone), epilepsy, and autistic features in some individuals. Although many patients remain relatively stable during childhood, a second phase of the disease typically begins during adolescence or early adulthood.

Read more

Snijders Blok-Campeau
syndrome

SBCS is a recently discovered genetic neurodevelopmental disorder, first described in 2018 by clinical researchers Lot Snijders Blok and Philippe Campeau. Individuals with this syndrome typically present with intellectual disability ranging from mild to severe, developmental delay, and speech impairments. Distinctive facial features are commonly observed, including a broad forehead, high hairline, hypertelorism (widely spaced eyes), epicanthal folds, and a broad nasal tip. Other physical characteristics may include heart defects, skeletal anomalies such as scoliosis, and urogenital abnormalities.

Read more
Image
Fields of interest

Cell Engineering: Generation of Stable Cell Lines and Functional Studies

The chemical and physiological functions of secondary metabolites are highly diverse, and they play roles in various aspects of human life, including as antibiotics, pesticides, antiparasitic drugs, herbicides, anti-inflammatory drugs, cardioactive compounds, antitumor drugs, antiviral drugs, antioxidants, and immunoactive modulators and stimulators. These bioactivities often overlap: more than half of the known secondary metabolites also exhibit other bioactivities. Undoubtedly, the application of bacterial secondary metabolites has revolutionized fields such as medicine, agriculture, and biotechnology.

Read more
Image
Fields of interest

Novel secondary metabolites discovery pipeline

Secondary metabolite discovery pipeline consists of several steps. The initial point most often is to isolate new bacteria. Samples of water, soil, other substrates are collected in order to isolate bacteria. Cultivable bacteria are the most important source of novel secondary metabolites. Each group of bacteria has defined conditions for the isolation and laboratory cultivation, allowing to isolate specific bacteria.
Read more
Image

Customized gene therapies for autism spectrum disorders caused by monogenic mutations

Mutation in multiple genes were already described to be contributing to autism spectrum disorder. Although it is hard to make a defined prognosis, it is plausible that early detection of such mutations might allow to design a gene-therapy, tailored specifically for a given individual, and, consequently, to compensate the mutation and cure the symptoms. Some genes, mutations in which are likely to contribute to autism spectrum disorder, are discussed below.

Read more

Personalized medicine

Personalized medicine, often referred to as precision medicine, marks a transformative approach within healthcare that tailors treatment and prevention strategies to the individual's unique characteristics, lifestyle, and genetic makeup. This evolving field not only promises to enhance the efficacy of therapies but also aims to revolutionize patient care by emphasizing targeted intervention over the one-size-fits-all approach that dominates traditional medicine.

Read more