
Explore hereditary disorders and genetic predisposition, with DNA, genes, and inheritance guiding diagnosis, counseling, and personalized medicine through testing, pharmacogenomics, and gene therapy.
Medical genetics links genes to health, covering clinical genetics, genetic counseling, cytogenetics, molecular genetics, and biochemical genetics, with focus on diagnosis, management, prevention, and advances like gene therapy and genomics.
Discover how medical genetics informs care across pediatric and adult diseases, including heart diseases, diabetes, and various cancers, from Mendelian inheritance and imprinting to sequencing, cytogenetics, pharmacogenomics, and precision medicine.
Explore how pharmacogenetics and pharmacogenomics guide drug responses to tailor treatment. Examine gene therapy, the central dogma, and how phenotype equals genotype times environment times time to explain disease risk.
Explore how genotype multiplied by environment and time shapes phenotype, guiding personalized medicine, pharmacogenetics, and family history to tailor prevention and drug responses.
Explore how genes and chromosomes carry genetic information that shapes traits, inheritance, and evolution, with DNA sequences that code for amino acids and mutations causing disease.
Explore the origins of genetic variation, including mutations, recombination, and gene flow, and learn detection methods from cytogenetics to DNA sequencing, with applications in evolution, agriculture, and personalized medicine.
Autosomal refers to the 22 non-sex chromosomes. Dominant traits need one copy to express, while recessive traits require two copies; Huntington's disease and Cystic fibrosis illustrate these patterns.
Explore human genetics by examining 23 chromosome pairs housed in the nucleus, where DNA coils six feet long and uses four bases with G-C and A-T pairings.
Explore the structure of DNA and RNA, their bases, and how messenger RNA with transfer RNA and ribosomes translates three-base codons into amino acids to form proteins.
Explore the structure and replication of DNA, including the double helix, base pairing, sugar-phosphate backbone, and the roles of helicase, primase, and DNA polymerase.
Explore autosomal dominant inheritance and pedigree analysis through a real case, showing how a single gene mutation shapes health outcomes across generations and informs recurrence risk.
Explain multifactorial inheritance in cancer, highlighting inherited mutations in genes like breast cancer 1 and breast cancer 2, two-hit models, and how environment and lifestyle can reduce risk.
Tailor warfarin dosing using CYP2C9 and VKORC1 variant testing, illustrating pharmacogenetics versus pharmacogenomics in precision medicine.
Explore chromosomal abnormalities and impact, focusing on Down syndrome (trisomy 21 with 47 chromosomes), diagnostic testing to distinguish trisomy 21 from translocations, and cytogenetic microarrays detecting deletions to guide prognosis.
This lecture presents phenylketonuria (PKU), emphasizing early detection and intervention that saves brain function, the gene-level defect, phenylalanine accumulation, and the benefits of a low phenylalanine diet and newborn screening.
Investigate chromosomal abnormalities and related genetic variations, including numerical and structural changes, mosaicism, and disorders such as Down syndrome, Turner syndrome, and Klinefelter syndrome, plus diagnosis and management.
Explore key human genetic disorders caused by enzyme deficiencies and gene mutations, including phenylketonuria, albinism, hexosaminidase A deficiency, lysosomal storage disease, cystic fibrosis, sickle cell anemia, and ABO blood groups.
Beta thalassemia results from defective beta globin due to mutations that disrupt splicing and beta globin synthesis, causing shortened red blood cell life and anemia, common in Mediterranean countries.
Explore how chronic myeloid leukemia arises from a translocation between chromosomes 9 and 22, producing the Philadelphia chromosome and a fused gene with a single RNA transcript.
Explore types of single gene disorders and how dominant, recessive, and X-linked inheritance shape diseases like Huntington's, cystic fibrosis, and hemophilia; examine mutations, gene expression, testing, and therapies.
Multifactorial disorders arise from a complex interplay of genetic and environmental factors, with risk alleles and lifestyle influencing conditions like diabetes, cancers, and heart disease.
Medical genetics has transformed from a focus on rare conditions to a central component of nearly all medical specialties, including cardiology, oncology, and psychiatry. This course provides health-care practitioners with the essential science required to understand the genetic basis of both pediatric and common adult diseases, such as heart disease, diabetes, and various cancers. We begin by exploring basic cell biology, gene structure, and the origin of genetic variation. Students will master the core principles of Mendelian inheritance—autosomal dominant, autosomal recessive, and X-linked—while also addressing complex nontraditional modes like genomic imprinting and mitochondrial inheritance.
The curriculum advances into clinical cytogenetics, covering the chromosomal basis of human disease and microdeletion syndromes. We then bridge to the genomic era, focusing on disease-gene identification, high-throughput DNA sequencing, and the burgeoning field of immunogenetics. Participants will learn to navigate multifactorial inheritance, understanding how multiple genes and environmental factors interact to cause prevalent disorders.
The final modules emphasize clinical application, including genetic testing, gene therapy, and the emerging field of precision medicine. We will cover pharmacogenomics—predicting drug responses based on individual genetic profiles—and the critical role of genetic counseling in communicating risk and treatment options. By the course's end, students will be prepared to integrate genetic information into patient care, adhering to the highest ethical and social standards of modern medicine.