Medical Genetics Thesis Topics
Medical genetics focuses on the diagnosis, molecular basis and clinical management of inherited disorders, chromosomal abnormalities and genetic predispositions. This collection provides 100 practical Medical Genetics thesis topics suitable for DM Medical Genetics residents in India and postgraduate trainees preparing for GCC, Arab Board and Royal College–aligned genetic medicine training programs.
All titles are structured as cross sectional, observational and comparative studies feasible in Indian and Gulf healthcare systems, optimised for searches like: Medical Genetics thesis topics, DM Genetics dissertation topics, GCC genetics research projects, Arab Board genetics thesis ideas, inherited disorder research titles.
1. Mendelian Disorders
Cross sectional study of clinical spectrum and genetic mutation patterns in autosomal dominant disorders.
This study evaluates phenotype variability, penetrance and mutation distribution across common dominant diseases encountered in India and GCC regions.
Comparative study of diagnostic yield of targeted gene panels versus whole exome sequencing in autosomal recessive disorders.
The project assesses mutation detection rates, cost-effectiveness and impact on clinical management.
Observational study of consanguinity-associated Mendelian disorders in families attending a genetics clinic.
This thesis explores inheritance patterns, recurrence risks and regional consanguinity trends.
Study of genotype–phenotype correlation in patients with Marfan syndrome and related connective tissue disorders.
This research evaluates ocular, cardiac and skeletal manifestations in relation to mutation type.
Cross sectional evaluation of early-onset neurological Mendelian disorders presenting in pediatric and adult clinics.
The study documents clinical features, diagnostic approaches and therapeutic outcomes.
Study of metabolic manifestations in Mendelian inborn errors of metabolism diagnosed through targeted sequencing.
This thesis correlates biochemical abnormalities with gene defects and treatment response.
Observational study of heterozygous carriers of recessive disorders: clinical significance and counselling challenges.
The project evaluates carrier phenotypes, incidental findings and family planning decisions.
Study of familial clustering in inherited endocrine disorders and mutation profiles among affected members.
This research explores variability within families and implications for screening at-risk relatives.
Cross sectional analysis of autosomal dominant polycystic kidney disease: mutation spectrum and renal outcomes.
The study examines disease severity, hypertension, renal failure progression and gene variant distribution.
Study of inherited bleeding disorders: molecular defects and clinical severity correlation.
This thesis assesses genotype influence on bleeding frequency and treatment requirements.
2. Chromosomal Disorders
Cross sectional study of chromosomal abnormalities detected on karyotyping in patients referred for developmental delay.
The research evaluates prevalence of aneuploidies, structural rearrangements and clinical correlations.
Study of prenatal chromosomal abnormalities detected through chorionic villus sampling and amniocentesis.
This thesis documents indications, abnormality patterns and pregnancy outcomes.
Comparative study of conventional karyotyping versus chromosomal microarray in congenital anomaly evaluation.
The project assesses diagnostic yield, turnaround time and cost implications in Indian and GCC settings.
Observational study of Turner syndrome: karyotype spectrum and clinical manifestations.
This research evaluates mosaicism, gonadal failure, cardiovascular anomalies and management outcomes.
Study of Down syndrome: maternal risk factors, cytogenetic variants and developmental outcomes.
The thesis analyses translocation, mosaic and non-disjunction types and their clinical implications.
Cross sectional analysis of sex chromosome aneuploidies presenting in adolescence and adulthood.
This project assesses delayed puberty, infertility, metabolic features and diagnosis delays.
Study of chromosomal breakage syndromes and their clinical presentations.
The research evaluates immunodeficiency, malignancy risk and mutation confirmation.
Observational analysis of structural chromosomal rearrangements in recurrent miscarriage couples.
This thesis assesses balanced translocations, inversions and reproductive outcomes.
Study of ring chromosome disorders: phenotype variability and genetic mechanism insights.
The project documents growth patterns, developmental outcomes and mosaicism.
Cross sectional evaluation of chromosomal abnormalities in infertility workups.
The research examines azoospermia, oligospermia and ovarian failure cases for karyotype abnormalities.
3. Metabolic and Mitochondrial Disorders
Observational study of inborn errors of metabolism detected through newborn screening where available.
The research evaluates disorder spectrum, clinical features and treatment outcomes in early-diagnosed infants.
Study of mitochondrial disorders: genotype–phenotype association and organ involvement patterns.
This thesis examines neurological, muscular and cardiac manifestations with mutation profiles.
Cross sectional analysis of amino acid metabolism disorders in children presenting with developmental delay.
The research evaluates biochemical findings, neurodevelopmental outcomes and genetic results.
Study of fatty acid oxidation disorders: clinical triggers, metabolic crises and long-term prognosis.
This project assesses early recognition and preventive management strategies.
Comparative analysis of enzyme assay versus genetic testing in lysosomal storage disorders.
The thesis evaluates diagnostic accuracy, mutation frequency and therapeutic implications.
Study of urea cycle disorders: precipitating factors for metabolic encephalopathy episodes.
This research examines dietary triggers, infections and biochemical correlations.
Observational study of organic acidemia cases presenting with acute encephalopathy.
The project analyses clinical features, gas chromatography–mass spectrometry profiles and outcomes.
Study of mitochondrial DNA depletion syndromes: clinical presentation and diagnostic pathways.
This thesis evaluates hepatic, neurological and muscular involvement trends.
Cross sectional analysis of metabolic myopathies in adolescents and adults.
The project documents exercise intolerance, muscle biopsy findings and mutation results.
Study of nutritional and supportive therapy outcomes in chronic metabolic disorders.
This research evaluates growth, hospitalisation rates and metabolic control improvement.
4. Cancer Genetics
Cross sectional study of hereditary breast and ovarian cancer syndrome mutation patterns in high-risk families.
This project assesses gene variants, family history patterns and counselling outcomes.
Study of Lynch syndrome: mutation spectrum, tumour profiles and surveillance adherence.
The thesis evaluates mismatch repair defects and colonoscopy follow-up practices.
Comparative analysis of multigene cancer panels versus organ-specific gene testing.
The research assesses detection yield, incidental findings and patient acceptability.
Study of familial endocrine tumour syndromes: genetic findings and organ involvement.
This project examines multiple endocrine neoplasia cases and screening practices.
Cross sectional analysis of mutation spectrum in paediatric cancer predisposition syndromes.
The thesis evaluates tumour types, age of onset and family history patterns.
Study of genetic counselling practices and uptake of predictive testing in hereditary cancer families.
The research explores psychological, cultural and socioeconomic factors influencing testing decisions.
Observational study of tumour sequencing in solid cancers and identification of actionable mutations.
This project analyses frequency of targetable alterations and treatment pathways.
Study of consanguinity-associated hereditary cancers in Middle Eastern populations.
The thesis assesses mutation enrichment, inheritance patterns and prevention strategies.
Cross sectional analysis of germline–somatic mutation concordance in hereditary cancer syndromes.
The research evaluates diagnostic utility of tumour-based screening.
Study of psychosocial impacts of hereditary cancer testing on families.
This project examines anxiety, family communication and coping patterns.
5. Prenatal and Reproductive Genetics
Cross sectional study of indications and outcomes of non-invasive prenatal testing.
This thesis evaluates detection rates, positive predictive value and follow-up decisions.
Study of prenatal ultrasound markers associated with chromosomal abnormalities.
The research documents nuchal translucency, nasal bone, soft markers and diagnostic confirmation.
Comparative study of chorionic villus sampling versus amniocentesis regarding diagnostic yield and complications.
The project evaluates procedure safety, maternal factors and indication profiles.
Study of congenital anomalies detected prenatally and their correlation with genetic testing results.
This thesis documents structural abnormalities and chromosomal or monogenic associations.
Cross sectional analysis of recurrent pregnancy loss: genetic evaluation and chromosomal findings.
The research analyses parental karyotype, embryo abnormalities and counselling outcomes.
Study of carrier screening practices for common recessive disorders in high-risk populations.
This project evaluates uptake, mutation frequency and reproductive planning outcomes.
Observational study of prenatal diagnosis decision-making among couples offered invasive testing.
This thesis explores cultural, social and psychological determinants influencing acceptance.
Study of preimplantation genetic testing outcomes in couples with genetic risk.
The research evaluates embryo results, implantation rates and pregnancy outcomes.
Cross sectional evaluation of neural tube defect risk factors and folate-related genetic variants.
This project examines nutritional factors, genetic polymorphisms and preventive strategies.
Study of non-invasive fetal Rhesus typing and clinical utility in alloimmunised pregnancies.
The thesis evaluates accuracy, timing and reduction in invasive procedures.
6. Neurogenetics
Cross sectional study of inherited neuropathies: mutation spectrum and clinical correlation.
The research evaluates Charcot–Marie–Tooth disorder types, severity and electrophysiology findings.
Study of early-onset epilepsy syndromes and diagnostic yield of genetic testing.
This project assesses mutation detection rates, treatment modifications and developmental outcomes.
Comparative study of neuroimaging patterns in leukodystrophies and their association with molecular findings.
The thesis evaluates MRI features and corresponding gene defects.
Observational study of hereditary ataxias: phenotype spectrum and mutation analysis.
This research documents age at onset, gait abnormalities and genetic heterogeneity.
Study of neurodegenerative disorders with dementia and role of genetic markers.
The project examines early versus late onset cases and associated gene variants.
Cross sectional evaluation of intellectual disability syndromes with known genetic etiologies.
This thesis analyses clinical features, behavioural issues and genetic confirmation rates.
Study of muscular dystrophies: genotype distribution and functional status assessment.
The research evaluates disease progression, cardiac involvement and impact of genetic type.
Observational analysis of movement disorder genetics including dystonia and chorea syndromes.
The project documents clinical patterns and mutation prevalence.
Study of perinatal hypoxic injury mimicking genetic disorders and challenges in diagnosis.
This thesis evaluates overlap features and role of sequencing in excluding inherited conditions.
Cross sectional analysis of peripheral neuropathy with suspected hereditary causes.
The research evaluates nerve conduction study patterns and mutation detection rates.
7. Cardiogenetics
Cross sectional study of inherited cardiomyopathies: mutation patterns and cardiac function correlation.
The research evaluates hypertrophic, dilated and arrhythmogenic cardiomyopathy subtypes.
Study of inherited arrhythmia syndromes and their clinical triggers.
This thesis examines long QT syndrome, Brugada syndrome and conduction abnormalities.
Comparative study of cardiac MRI versus echocardiography in identifying features of inherited cardiomyopathies.
The project correlates imaging results with genotype findings.
Study of sudden cardiac death in young individuals and role of genetic evaluation.
This research assesses autopsy findings, family screening and causative mutations.
Cross sectional analysis of congenital heart defects with suspected genetic basis.
The thesis evaluates chromosomal abnormalities, monogenic mutations and recurrence patterns.
Study of aortopathy syndromes including Marfan and Loeys–Dietz conditions.
This project examines vascular imaging findings and mutation distribution.
Observational study of dyslipidaemia-associated genetic mutations in suspected familial hypercholesterolaemia.
The thesis examines lipid parameters, cardiovascular risk and cascade screening outcomes.
Study of cardiomyopathy progression and quality of life among individuals with pathogenic mutations.
The research assesses functional decline, exercise tolerance and management outcomes.
Cross sectional evaluation of channelopathies presenting with syncope and palpitations.
The project correlates trigger patterns, ECG findings and genotype.
Study of genetic counselling outcomes in families with inherited cardiac disorders.
This thesis evaluates decision-making, follow-up adherence and understanding of recurrence risk.
8. Immunogenetics
Cross sectional study of primary immunodeficiency disorders: mutation spectrum and infection patterns.
The project evaluates diagnostic delays, immune function profiles and treatment outcomes.
Study of auto-inflammatory syndromes: clinical features and genetic mutations.
This research documents fever patterns, biomarkers and therapeutic responses.
Comparative study of whole genome sequencing versus targeted sequencing in suspected immunodeficiency disorders.
The thesis assesses diagnostic yield, cost and clinical impact.
Study of immunogenetic variants associated with severe viral infections in children.
The project evaluates immune pathway mutations and severity indicators.
Cross sectional analysis of HLA typing and disease associations in autoimmune disorders.
This study examines associations with endocrine, gastrointestinal and rheumatologic diseases.
Study of genetic predictors of drug hypersensitivity reactions.
The research evaluates gene variants linked to severe cutaneous reactions and medication intolerance.
Observational study of complement pathway mutations in recurrent infections.
This thesis examines clinical features, mutation profiles and management approaches.
Study of gene polymorphisms associated with vaccine response variability.
The project assesses immunologic responses, antibody titres and demographic predictors.
Cross sectional analysis of immune dysregulation syndromes and their molecular basis.
This study identifies clinical variability and genotype–phenotype relationships.
Study of hereditary angioedema mutation profiles and treatment response patterns.
This research evaluates triggers, severity scores and therapy outcomes.
9. Pharmacogenetics
Cross sectional study of pharmacogenetic variants influencing drug metabolism in outpatient populations.
This research evaluates allele frequencies and their implications for therapeutic dosing.
Study of genetic polymorphisms affecting warfarin dose requirements and bleeding risk.
The thesis assesses genotype-guided dosing algorithms and outcomes.
Comparative study of treatment response in patients with depression receiving genotype-guided therapy versus standard therapy.
This project evaluates symptom improvement, dose adjustments and adverse effects.
Study of drug response variability in epilepsy associated with neurogenetic variants.
The research analyses mutation-associated pharmacoresistance patterns.
Cross sectional analysis of thiopurine methyltransferase variants in patients receiving thiopurine therapy.
The thesis evaluates toxicity, dose adjustments and mutation frequencies.
Study of pharmacogenetic markers influencing chemotherapy toxicity in cancer patients.
This project examines bone marrow suppression, neuropathy and treatment outcomes.
Observational study of antiretroviral drug metabolism and associated genetic variants.
The research evaluates treatment adherence, virologic suppression and toxicity.
Study of proton pump inhibitor response variability associated with cytochrome gene variants.
This thesis measures symptom relief, healing rates and required dosing.
Cross sectional analysis of opioid metabolism gene variants and pain control outcomes.
The project assesses efficacy, side effects and personalised dosing needs.
Study of statin intolerance and associated gene polymorphisms.
The research evaluates myopathy, lipid response and alternative therapy outcomes.
10. Population Genetics and Genomic Medicine
Cross sectional study of inherited disorder prevalence in communities with high consanguinity.
This thesis evaluates disease patterns and mutation enrichment in specific population groups.
Study of genome-wide association findings for common metabolic diseases where data is available.
This project analyses associations with diabetes, obesity and cardiovascular risk.
Observational study of public awareness and attitudes toward genetic testing in urban and rural populations.
The research assesses knowledge gaps, acceptance and concerns.
Study of founder mutations in regional population groups and their clinical significance.
This thesis evaluates mutation transmission patterns and screening implications.
Cross sectional analysis of genetic literacy among healthcare workers.
The project evaluates understanding of inheritance, testing and counselling responsibilities.
Study of expanded carrier screening adoption and outcomes in high-risk communities.
This thesis examines mutation frequency, counselling decisions and reproductive planning.
Observational study of bioethical concerns in genomic medicine practice.
The research explores consent, privacy, incidental findings and patient autonomy.
Study of digital tools for family history collection in genetics clinics.
The project evaluates accuracy, usability and impact on diagnosis.
Cross sectional evaluation of population screening programs for thalassaemia and haemoglobinopathies.
This thesis analyses carrier frequency, screening strategies and marriage counselling outcomes.
Study of polygenic risk score awareness and applicability in clinical medicine.
The research evaluates perceptions, knowledge and readiness for implementation.