EP 167: Research Roundup with Dr. Veera: Wrapping up 2024 in four pioneering papers

The Genetics Podcast

00:00 Intro to The Genetics Podcast

01:00 Welcome back to Veera and topics to be covered

03:50 Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants, including:

• Focusing on recent findings related to Huntington’s HTT repeat expansion in striatal neurons
• Leveraging newly-sequenced GWAS data from the UK Biobank and All of Us cohorts to study short tandem repeats (STRs), particularly the CAG triplet repeat
• Identifying multiple participants with expanded repeats exceeding 45 base pairs, revealing that three genetic sites account for over 97% of these expansions
• Exploring factors that may prevent or impact the phenotypic manifestation of repeat expansions
• Read the paper

30:51 The impact of lipids in protecting against pathogenic APOE and Alzheimer’s disease (AD)

• Investigating how different haplotypes interact with low-density lipoprotein receptors in neuronal tissues, influencing cholesterol lipid transport and AD risk
• Examining lipid profiles in APOE carriers, including elevated low-density lipoprotein cholesterol levels in APOE4 carriers and decreased levels in APOE2 carriers, and their effects on cholesterol and nutrient supply to neurons
• Exploring gene therapy approaches for delivering APOE2 into the brain
• Read the paper

44:20 How low frequency genetic variants can impact the age of menopause onset

• Exploring the relationship between age of menopause and ovarian function
• Addressing the challenges in studying recessive genetic associations
• Examining how homozygosity of a variant in the CCDC201 gene influences primary ovarian insufficiency and strongly associates with early menopause
• Read the paper

57:58 GUARDIAN: Expanding screening for newborns to include targeted genome sequencing

• Examining the 72% participation rate among invited families and the 90% consent rate for expanded panel screening
• Exploring opportunities for early treatment and preventive interventions
• Ensuring databases are representative across diverse populations
• Tune into Episode 117 to hear from the leader of the GUARDIAN program, Wendy Chung

01:11:54 Predictions for 2025 and closing remarks!