Biomedical Data Science

TP53 germline mutations are the main factors causing Li-Fraumeni Syndrome (LFS), an infrequent cancer predisposition pathology. Up to ninety percent of patients with this syndrome develop malignancies within their lives, mostly at an earlier age. The tumor suppressor protein, p53, encoded by TP53, takes part in controlling several critical pathways, including cell-cycle regulation, DNA repair, apoptosis, and genomic stability.

Phages are extremely specific viruses that only target bacteria. They have achieved great successes against bacterial infections but due to their high specificity they are naturally useless against eukaryotic cells such as cancer. Using phage display technology, phages can be engineered to display peptides on their capsids.

Osteosarcoma is a bone cancer that commonly occurs in adolescents and young adults and is caused by overproduction of osteoblasts (bone cells). Osteosarcoma’s genome is very unstable, and many chromosomes are prone to mutations. In this case, osteosarcoma can evolve quickly and become more resistant to therapy and treatment.

Hypertension, also known as high blood pressure, is characterized by consistently elevated blood pressure against the artery walls. It is a global health crisis, impacting nearly half of the US adults and causing 685,000 deaths in 2022. In the Renin-Angiotensin-Aldosterone System, ACE has the role of converting angiotensin I into angiotensin II.

Cancer vaccines work by activating the body's natural immune response and using this to destroy cancer cells. Cancerous tumor antigens are first injected into a patient in order to train the immune cells to detect the cancer. This means that next time the T-Cells are exposed to these antigens they will destroy the cells containing these antigens.

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder in which insulin resistance and β-cell dysfunction compromise the regulation of blood glucose levels. Exosome-derived microRNAs (miRNAs), packaged within extracellular vesicles, have emerged as key regulators of intercellular communication in these pathways.

Breast cancer isn’t a single disease, it’s made up of subtypes that differ in how they develop, spread, and respond to treatment. Hormone-positive, HER2-positive, and triple-negative are the most common types. These differences can affect everything from prognosis to therapy choices, which is why every person cannot get the same treatment.

ORMDL3 gene disrupts sphingolipid metabolism by regulating the SPT enzyme, and how its overexpression leads to ER stress and inflammation. Additionally, the GSDMB gene is involved in controlling cell death in tissues in the airways and lungs.

Cowden Syndrome (CS) is a rare genetic condition caused by mutations in the PTEN gene, which normally helps keep cell growth in check. When this gene doesn’t work properly, people with CS face higher risks of developing certain cancers - especially breast, thyroid, and endometrial - as well as challenges like benign tumors, skin lesions, and developmental delays.

EGFR mutations are present in about 32% of non-small cell lung cancer (NSCLC) patients worldwide, with higher rates in Asian populations (~38%) compared to Caucasians (~14–17%) and other ethnic groups. Among these mutations, exon 19 deletions are the most common, accounting for approximately 45–70% of EGFR alterations in NSCLC.

A neurodegenerative disorder that predominantly affects the dopaminergic neurons in the substantia nigra of the brain. This condition most commonly affects people around the age of 60, but in some cases individuals can experience it before turning 50. Some of the common symptoms include resting tremors, muscle stiffness or rigidity, bradykinesia.

AD is the most common type of dementia, affecting more than 55 million people worldwide. It typically grows silently several decades before any memory loss develops. While age is a key risk factor, genetics play an important role when choosing who gets the disease and when symptoms appear. The current study addresses whether genetic risk scores, specifically Polygenic Risk Scores (PRS).

Achondroplasia is a form of skeletal dysplasia or dwarfism caused by genetic mutations. Affecting approximately 1 in 15,000 individuals, achondroplasia is characterized by disproportionate dwarfism, where individuals have an average-sized torso and short limbs. The condition is primarily caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, leading to abnormal bone growth due to impaired chondrocyte proliferation.

Celiac disease is an autoimmune disorder triggered by gluten ingestion in genetically predisposed individuals. CD causes an inappropriate immune response to gluten, leading to inflammation and damage to the small intestine, which hinders nutrient absorption. Symptoms vary widely, from gastrointestinal issues to silent CD, where patients experience no symptoms but suffer from intestinal damage.

Sweating is a vital bodily function for temperature regulation. When body temperature rises, the hypothalamus signals eccrine sweat glands to release water, cooling the body. These glands excrete a liquid mixture containing water, sodium, potassium, amino acids, and more. This fluid, known as sweat, aids temperature reduction through evaporative cooling.

Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) are conditions that arise from mutations in the dystrophin gene, a critical protein responsible for muscle stability and function. DMD, the more severe form, results from a complete absence of dystrophin, while BMD stems from reduced or partially functional dystrophin protein.

Chronic metabolic disorder is characterized by the body's inability to regulate blood glucose levels effectively. Type 2 Diabetes Mellitus (T2DM) is primarily caused by insulin resistance, often linked to genetic factors, obesity, and lifestyle choices. The condition leads to hyperglycemia, resulting in symptoms like frequent urination, unexplained weight loss, and slow wound healing.

Classic Hemophilia, also know as Hemophilia A, is a congenital, inherited, X-linked recessive disease caused by an F8 gene mutation located at Xq28, leading to a deficiency of clotting factor 8. This type of hemophilia is five times more common than Hemophilia B, affecting approximately 1 in every 5,000 babies born

Schizophrenia typically manifests in late adolescence or early adulthood, with men being more affected. Symptoms are categorized into positive (e.g., hallucinations, delusions) and negative (e.g., social withdrawal, reduced emotional expression) types.

Eczema is a dermatological condition that can arise from environmental factors, genetic mutations, or hereditary causes. While it can appear on any part of the body, it most commonly manifests on the hands, face, and neck. Eczema can develop at any stage of life, although it is particularly prevalent among infants, adults, and individuals aged between 13 to 18 years.

CAR-T cell therapy is used for targeting the B-cell maturation antigen (BCMA) as a treatment for multiple myeloma (MM), a rare and aggressive blood cancer. MM is characterized by the uncontrolled proliferation of abnormal plasma cells, leading to various health issues, including bone damage and kidney failure. BCMA is a protein highly and exclusively expressed on plasma cells, making it an ideal target for CAR-T therapies.

We explore the potential of using genetic testing to predict the risk of developing schizophrenia before birth. Schizophrenia is a complex mental disorder marked by symptoms like delusions and hallucinations, with its onset typically in late adolescence or early adulthood. The study focuses on the dopamine hypothesis, which links the disorder to dopamine dysfunction caused by mutations in genes.