There are few empirical data to inform the use and regulation of direct-to-consumer (DTC) genome-wide disease risk tests. The Scripps Genomic Health Initiative is a prospective longitudinal cohort study that aims to determine the psychological, behavioral, and clinical impacts of genomic testing for common disease susceptibility. Our findings at one-year follow-up indicate that over a […]
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Identification of chromosome 3q28 and ALPK1 as susceptibility loci for chronic kidney disease in Japanese individuals by a genome-wide association study
We performed a genome-wide association study to identify genetic variants that confer susceptibility to chronic kidney disease (CKD) in Japanese. The rs9846911 at 3q28 was significantly associated with CKD in Japanese. The rs2074381 and rs2074380 of ALPK1 at 4q25 were also significantly associated with CKD in individuals with diabetes mellitus. Combined genotype analysis of these […]
Ovarian cancer among 8005 women from a breast cancer family history clinic: No increased risk of invasive ovarian cancer in families testing negative for BRCA1 and BRCA2
Families with mutations in BRCA1/BRCA2 genes have a high-risk of both breast and ovarian cancer. We examined whether there was increased ovarian cancer risk in families which were untested or tested negative for BRCA1/2 mutations. By performing person-years at risk analyses on 8005 women from 895 families we found there to be no increased risk […]
Recent Advances in the Genetics of Sarcoidosis
Sarcoidosis is a systemic granulomatous disorder most commonly affecting the lung. While we do not know its cause/s, there is compelling evidence that a genetic predisposition to developing the disease exists. However, sarcoidosis is not a single-gene disorder; instead, it is likely to result from a complex interplay of multiple genes and environmental factors. The […]
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci
The Mexican population has an increased susceptibility to dyslipidemias predisposing to coronary heart disease. We performed the first Mexican GWAS for lipids in which we observed a novel locus for high triglycerides near the NPC1 gene. Using cross-ethnic mapping we also restricted several GWAS loci shared between Mexicans and Europeans. At the APOA5 locus, we […]
Recent advances in the molecular genetics of epilepsy
Remarkable advances in our understanding of epilepsies have occurred over the last 15 years. Concepts about etiology of epilepsies have been transformed from largely unknown to predominantly genetic through clinical genetic and molecular genetic advances. In this review we contrast the early breakthroughs in epilepsy genetics including the contribution of susceptibility alleles, de novo mutations […]
ARHGDIA: a novel gene implicated in nephrotic syndrome
Congenital nephrotic syndrome is a rare kidney disease in which affected infants lose protein in the urine and eventually develop kidney failure. Most cases are due to mutations in one of five genes. We have identified a mutation in a new gene, ARHGDIA, encoding Rho GDP dissociation inhibitor alpha (RhoGDIa) that is responsible for this […]
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia
Congenital multiple intestinal atresia is a fatal disorder affecting newborn infants, with the occurrence of numerous obstructions in the small and large intestines, sometimes associated with severe immune deficiency. A genetic origin for the disease was suspected but until now no specific gene had been identified. By performing genome-wide sequencing of DNA from five affected […]
TBC1D24 Truncating Mutation Resulting in Severe Neurodegeneration
Our patients had epilepsy onset in infancy as part of a severe disease affecting the brain that led to death in childhood. We found the underlying mutation. Previously two epilepsy families were described with defects in the same gene. The Italian patients had normal neurological and mental development whereas the Arab patients had moderate intellectual […]
Melanoma-prone families with CDK4 germline mutation: Phenotypic profile and associations with MC1R variants
Families with mutations in the genes CDKN2A or CDK4 have a very high risk of developing cutaneous malignant melanoma. CDKN2A melanoma families are well characterized, whereas a common description has been lacking for the much rarer CDK4 families. We have studied 17 CDK4 families from eight countries, the largest collection of such pedigrees to date. […]