Research Areas

The dark triad is a psychological construct of personality traits, first introduced by Delroy L. Paulhus and Kevin M. Williams in 2002, that describes the relationship between three notably aversive but non-pathological personality traits: Machiavellianism, sub-clinical…

Dopamine is a neuromodulatory molecule that plays several important roles in cells. It is an organic chemical of the catecholamine and phenethylamine families.

The one-carbon cycle — folate transporters, methylation enzymes, DNA synthesis enzymes, and linked immune genes.

Acenocoumarol is a generic oral anticoagulant and vitamin K antagonist used to prevent and treat thromboembolic diseases, such as deep vein thrombosis and atrial fibrillation.

These conditions are linked to the HFE gene. Variants like rs1799945 are associated with hemochromatosis type 1, porphyrias, Alzheimer disease, and diabetes microvascular complications, affecting iron homeostasis.

Androgen Deprivation Therapy (ADT) is a prostate cancer treatment that lowers testosterone levels to slow tumor growth and shrink cancer cells.

Barrett esophagus is a premalignant condition where chronic acid reflux damages the esophagus, replacing normal lining with columnar cells, increasing esophageal cancer risk.

Breast cancer is a disease where abnormal breast cells grow out of control, forming tumors that may spread. It is the most common cancer in women globally, with treatments including surgery, radiation, and medication.

Brugada syndrome is a rare genetic heart disorder causing dangerous irregular heart rhythms and sudden cardiac death, often during sleep. It is diagnosed via ECG and managed with implantable defibrillators.

CYP2C19: No Function is a germline variant classification indicating zero enzyme activity, associated with specific genetic mutations like rs4244285, and categorized as a drug response factor by the Clinical Pharmacogenetics Implementation Consortium.

Cardiomyopathy is heart muscle disease weakening the heart's pumping ability. It includes dilated, hypertrophic, and restrictive types, causing heart failure, arrhythmias, or sudden death.

Cerebral Visual Impairment (CVI) causes brain-based visual dysfunction, often co-occurring with Intellectual Disability. Visual deficits can mimic or exacerbate cognitive and social delays, necessitating specialized diagnosis and tailored educational strategies.

Colorectal cancer susceptibility stems from genetic syndromes like Lynch syndrome and FAP, alongside lifestyle factors such as diet, obesity, smoking, and inflammatory bowel disease.

Congenital bilateral aplasia of the vas deferens (CBAVD) is a cause of male infertility, often linked to CFTR gene mutations associated with cystic fibrosis, resulting in the complete absence of both vas deferens.

Crigler-Najjar syndrome is a rare genetic disorder causing severe unconjugated hyperbilirubinemia due to UGT1A1 enzyme deficiency, leading to jaundice and potential brain damage.

Crohn disease is a chronic inflammatory bowel disease causing transmural GI inflammation, typically in the ileum/colon. It features relapsing flares, abdominal pain, diarrhea, and potential complications like fistulas and strictures.

Type 1 diabetes is an autoimmune disease destroying insulin-producing cells, causing absolute insulin deficiency. It requires lifelong insulin therapy and causes severe complications like kidney disease and blindness.

Ectopia Lentis et Pupillae is a rare, congenital, autosomal recessive eye disorder characterized by bilateral displacement of the lens and pupil in opposite directions, without systemic manifestations.

Esophageal Squamous Cell Carcinoma is a malignant tumor of the esophageal lining, primarily caused by tobacco and alcohol. It predominantly affects the upper and middle esophagus, with high incidence in Eastern Asia and Africa.

Gastric cancer originates in the stomach lining, primarily as adenocarcinoma. Key risk factors include H. pylori infection, diet, and smoking. Early detection improves survival, with treatments involving surgery and chemotherapy.

Gilbert Syndrome is a benign, genetic liver condition causing mild elevated bilirubin. It features asymptomatic periods or recurrent jaundice triggered by stress, fasting, or illness, requiring no treatment.

Glioma susceptibility 1 (GLM1) is an autosomal dominant trait linked to TP53, IDH1, and ERBB2 mutations, increasing risk for gliomas like astrocytomas and glioblastomas.

Hemochromatosis is an iron overload disorder causing excess iron accumulation in organs like the liver, heart, and pancreas, leading to potential damage and failure without treatment.

Hypercholesterolemia is high blood cholesterol, primarily elevated LDL, increasing heart disease risk. It stems from genetic, dietary, or lifestyle factors and is managed via lifestyle changes and medications like statins.

Inflammatory Bowel Disease (IBD) is a chronic autoimmune condition involving intestinal inflammation. It primarily manifests as Crohn’s disease or ulcerative colitis, causing pain, diarrhea, and weight loss.

Keratosis pilaris atrophicans is a group of rare disorders causing inflammatory keratotic papules that lead to permanent scarring, atrophy, and hair loss, particularly on the face and scalp.

Leukemia, Acute Lymphocytic, Susceptibility To, 2 is a genetic susceptibility locus for ALL mapped to chromosome 7p12.2, distinct from the primary 10q21.2 locus.

Lip and oral cavity carcinoma is a cancer arising in the lip or mouth, primarily affecting the tongue, gums, or buccal mucosa as squamous cell carcinoma.

Lung adenocarcinoma is the most common non-small cell lung cancer, accounting for 40% of cases. It originates in peripheral glandular cells, frequently affects never-smokers, and is treated via surgery, chemotherapy, and targeted therapies.

Melanoma is a serious skin cancer originating in melanocytes. It is highly curable if detected early but dangerous due to its potential to spread to other organs if untreated.

Methotrexate significantly improves symptoms and reduces joint damage in rheumatoid arthritis. It serves as a cornerstone therapy with established efficacy, though adverse events frequently cause treatment discontinuation.

Myeloproliferative neoplasms are rare blood cancers where bone marrow overproduces red blood cells, white blood cells, or platelets due to acquired genetic mutations.

Oculocutaneous Albinism Type 1B (OCA1B) is an autosomal recessive disorder caused by TYR gene mutations, resulting in partial tyrosinase activity, reduced pigmentation, and vision issues like nystagmus.

Peginterferon alfa-2a and alfa-2b combined with ribavirin form the backbone of HCV treatment. Adding boceprevir or telaprevir significantly improves efficacy (SVR rates), though alfa-2a may offer slightly better outcomes than alfa-2b.

Phenprocoumon dosing is highly individual, typically requiring 1.5–4.5 mg daily. Genetic factors like CYP2C9 and VKORC1 polymorphisms significantly influence dose requirements and stability.

Platinum compounds induce DNA damage and immunogenic cell death. Oxaliplatin triggers immune responses, while nanotechnologies and GSH-scavenging strategies overcome resistance and enhance therapeutic efficacy.

Primary Biliary Cholangitis is a chronic autoimmune liver disease destroying bile ducts, causing bile buildup, scarring, and potential cirrhosis, primarily affecting middle-aged women.

Approximately 12 percent of advanced prostate cancers are hereditary, driven by mutations in genes like BRCA1/2, HOXB13, and Lynch syndrome-associated MMR genes.

Psoriasis is a chronic autoimmune disease causing rapid skin cell buildup, resulting in red, scaly plaques. It is non-contagious, genetic, and may lead to psoriatic arthritis and other systemic complications.

Retinitis pigmentosa is a group of genetic disorders causing progressive vision loss due to retinal cell degeneration, typically starting with night blindness and narrowing peripheral vision.

Rheumatoid arthritis is a chronic autoimmune disorder causing symmetric joint inflammation, pain, and stiffness. It can also damage other organs like the heart and lungs, with no known cure.

Skin/Hair/Eye Pigmentation 3 is a genetic condition linked to the TYR gene, associated with light/dark skin, freckling, and blue/green eye color.

Thyroid Cancer, Nonmedullary, 1 is Papillary Thyroid Carcinoma, a rare, autosomal dominant form of nonmedullary thyroid cancer, representing approximately 85% of familial cases.

Variegate Porphyria is a rare genetic disorder causing deficient PPOX enzyme activity. It leads to photosensitive blistering skin lesions and potentially acute neurovisceral attacks, primarily affecting the liver.

Initial warfarin doses range 2–5 mg daily, typically overlapped with heparin for 4–5 days. Maintenance requires individualized dosing (2–10 mg) to maintain a target INR of 2.0–3.0, monitored via regular testing.