Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Genetic Screens02:46

Genetic Screens

5.8K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.8K
Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

5.3K
Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
5.3K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

16.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
16.2K
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

4.0K
Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
4.0K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Genetic architecture of the murine serum metabolome reveals carboxyl esterases as master regulators of circulating fatty acid metabolism.

bioRxiv : the preprint server for biology·2026
Same author

Examining Epilepsy in Angelman Syndrome: Insights From Caregiver-Reported Data in the Linking Angelman and Dup15q Data for Expanded Research Database.

Pediatric neurology·2026
Same author

Integrated analysis of blood donor metabolic phenotypes and genetic traits on red blood cell transfusion effectiveness.

Blood. Red cells & iron·2026
Same author

The red blood cell proteome and interactome identify a Band 3-BLVRB axis regulating hypoxic metabolic adaptation.

Blood·2026
Same author

GPX4 regulates lipid peroxidation and ferroptosis of stored red blood cells.

Blood. Red cells & iron·2026
Same author

A single-nucleus multiome analysis of transcriptome and chromatin accessibility reveals cell-type-specific immune modulation for chronic cannabis use among people with HIV infection.

bioRxiv : the preprint server for biology·2026

Related Experiment Video

Updated: Mar 8, 2026

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19
06:46

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19

Published on: July 5, 2022

3.4K

Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check program.

Nathan C Gaddis1, Katerina S Kucera1, Heidi L Cope1

  • 1GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.

American Journal of Human Genetics
|March 6, 2026
PubMed
Summary

Genetic risk scores (GRSs) can identify newborns at high risk for type 1 diabetes (T1D). Whole-genome sequencing in a newborn screening program demonstrated the feasibility of T1D GRS calculation and return, aiding early risk stratification.

Keywords:
Early Checkautoantibody testinggenetic risk scoregenome sequencingnewborn screeningpopulation-based screeningtype 1 diabetes

More Related Videos

A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases
06:50

A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases

Published on: May 29, 2020

3.1K
Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

24.9K

Related Experiment Videos

Last Updated: Mar 8, 2026

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19
06:46

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19

Published on: July 5, 2022

3.4K
A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases
06:50

A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases

Published on: May 29, 2020

3.1K
Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

24.9K

Area of Science:

  • Genetics
  • Pediatrics
  • Autoimmune Diseases

Background:

  • Type 1 diabetes (T1D) is a significant childhood autoimmune disease with severe complications.
  • Genetic risk scores (GRSs) show promise for early T1D risk identification.
  • Integrating GRSs into newborn screening (NBS) remains largely unaddressed in the US.

Purpose of the Study:

  • To assess the feasibility of using whole-genome sequencing (WGS) for calculating and returning T1D GRSs within a real-world NBS program.
  • To evaluate the utility of T1D GRSs for early risk stratification in newborns.
  • To identify challenges and areas for improvement in population-based GRS screening.

Main Methods:

  • Whole-genome sequencing (WGS) was performed on dried blood spot samples from newborns in a voluntary NBS research program (Early Check, North Carolina).
  • A validated 67-variant T1D GRS2 model was used to calculate predicted T1D risk.
  • Results were returned to parents, and newborns with elevated genetic risk were offered islet autoantibody testing.

Main Results:

  • Of 1,742 newborns with elected T1D screening, 92% received a valid GRS2 result.
  • 3.9% were classified as higher concern and 7.4% as moderate concern for T1D risk.
  • In the higher-concern group, 2 out of 41 infants tested positive for autoantibodies, but both reverted to negative by 12 months.
  • Lower GRS2 scores were observed in African ancestry newborns, indicating a need for ancestry-specific models.

Conclusions:

  • Population-based T1D GRS screening using WGS is feasible within an NBS framework.
  • GRS screening supports early-life risk stratification for T1D.
  • Further research is needed to improve cross-ancestry performance and conduct long-term validation of T1D GRS screening.