Sponsor of the Day:
Jerkmate
https://bionano.com/genetic-disease-testing/
Genetic Disease Testing | Bionano
Aug 31, 2023 - Revolutionize detection of disease-causing chromosomal aberrations in a genome-wide, unbiased manner with optical genome mapping (OGM) solutions from Bionano.
genetic disease testingbionano
https://www.illumina.com/areas-of-interest/genetic-disease.html
Genetic Disease Testing | NGS benefits
NGS technology is helping to drive breakthroughs in genetic disease testing by facilitating early detection and diagnosis.
genetic disease testingngsbenefits
https://www.illumina.com/solutions/genetic-disease-research-solutions.html
Illumina Genetic Disease Research Workflow Solutions
Illumina provides integrated genomic workflow solutions to support genetic disease research across discovery, characterization, and interpretation.
research workflow solutionsgenetic diseaseillumina
https://www.broadinstitute.org/publications/broad1364001
Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease. | Broad Institute
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https://www.medicaldaily.com/how-crispr-gene-editing-revolutionizing-genetic-disease-treatment-474961
How CRISPR Gene Editing Is Revolutionizing Genetic Disease Treatment
Mar 17, 2026 - Explore how CRISPR gene editing is transforming genetic disease treatment, uncovering breakthroughs, safety advances, and the future possibilities of curing...
crispr gene editinggenetic diseaserevolutionizingtreatment
https://www.massgeneralbrigham.org/en/about/newsroom/press-releases/discovery-of-potential-drug-target-for-friedreichs-ataxia
Findings Point to Path Forward for Treatment of Rare Genetic Disease | Mass General Brigham
Researchers from Mass General Brigham and the Broad Institute have discovered a potential drug target for the mitochondrial disorder Friedreich’s ataxia,...
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https://emea.illumina.com/science/customer-stories/icommunity-customer-interviews-case-studies/choi-kudp-interview-rugd-novaseq.html
Using NGS to Study Rare Undiagnosed Genetic Disease
iCommunity spoke with Dr. Choi about how NGS will be used in the future for rare disease research.
undiagnosed geneticusingngsstudyrare
https://emea.illumina.com/products/by-area/genetic-health.html
Genetic Disease Products
Sequencing and microarray kits, assays, and other products to help advance breakthroughs in genetic and rare diseases.
genetic diseaseproducts
https://emea.illumina.com/areas-of-interest/genetic-disease.html
Genetic Disease Testing | NGS benefits
NGS technology is helping to drive breakthroughs in genetic disease testing by facilitating early detection and diagnosis.
genetic disease testingngsbenefits
https://www.charite.de/en/service/press_reports/artikel/detail/active_ingredient_of_viagra_helps_treat_rare_genetic_disease
Active ingredient of Viagra helps treat rare genetic disease: Charité – Universitätsmedizin Berlin
Press release of the Charité – Universitätsmedizin Berlin
rare genetic diseaseactive ingredientviagrahelpstreat
https://emea.illumina.com/solutions/genetic-disease-research-solutions.html
Illumina Genetic Disease Research Workflow Solutions
Illumina provides integrated genomic workflow solutions to support genetic disease research across discovery, characterization, and interpretation.
research workflow solutionsgenetic diseaseillumina
https://www.cbsnews.com/atlanta/news/douglas-county-fire-chief-seeks-kidney-donor-as-genetic-disease-worsens-highlighting-disparities-for-black-patients/
Douglas County Fire Chief seeks kidney donor as genetic disease worsens, highlighting disparities...
Apr 27, 2026 - Chief Miles Allen, a longtime firefighter and Air Force veteran, is urging the public to consider living kidney donation as polycystic kidney disease advances...
douglas countyfire chiefkidney donorgenetic diseaseseeks
https://www.illumina.com/products/by-area/genetic-health.html
Genetic Disease Products
Sequencing and microarray kits, assays, and other products to help advance breakthroughs in genetic and rare diseases.
genetic diseaseproducts
https://healthier.stanfordchildrens.org/en/new-hope-for-treating-a-rare-genetic-disease-before-birth/
New Hope for Treating a Rare Genetic Disease Before Birth - Stanford Medicine Children’s Health Blog
Stanford Medicine Launches a Clinical Trial: Testing prenatal stem cell transplants for Fanconi anemia. Potentially bypasses chemotherapy and radiation.
rare genetic diseasenew hopestanford medicinehealth blogtreating
https://www.broadinstitute.org/news/genetic-base-editing-treats-sickle-cell-disease-mice
Genetic base editing treats sickle cell disease in mice | Broad Institute
Broad Institute is a multidisciplinary community of researchers on a mission to improve human health.
sickle cell diseasebase editingbroad institutegenetictreats
https://kottke.org/25/07/a-new-genetic-map-of-human-disease-for-the-past-37000-years
A New Genetic Map of Human Disease for the Past 37,000 Years
Jul 10, 2025 - Carl Zimmer writes about the results of a new genetic study of humans and the diseases that afflicted us over the past 37,000 years. It’s a really fascinat
new genetichuman disease37 000mappast
https://worldmedicalinnovation.org/events/a-deep-dive-on-genetic-modalities-for-rare-disease-genetic-medicines-are-here/
A Deep Dive on Genetic Modalities for Rare Disease: Genetic Medicines Are Here - World Medical...
Oct 7, 2024 - picasso-ballroom September 23, 2024 4:50 pm tazeen-ahmad|patricia-musolino-md-phd|faraz-ali|lucas-harrington-phd|raju-prasad-phd|sandi-see-tai-md
deep diverare diseaseworld medicalgeneticmodalities
https://www.medicinenet.com/gaucher_disease/article.htm
Gaucher Disease Types, Genetic Causes, Symptoms, Treatment
Get information about the types of Gaucher disease, a genetic disorder, as well as the causes, symptoms, treatment, and inheritance pattern of this genetic...
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https://nyulangone.org/doctors/condition/genetic-skin-disease
Genetic Skin Disease Doctors | NYU Langone Health
Find a doctor who specializes in treating genetic skin disease and schedule an appointment today. Our specialists are dedicated to providing the care you need.
doctors nyu langoneskin diseasegenetichealth
https://sciencedaily.com/releases/2025/01/250116133442.htm
Study finds surprising way that genetic mutation causes Huntington's disease, transforming...
Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain...
study finds surprisinggenetic mutationdisease transformingwaycauses
https://alzheimer.ca/en/about-dementia/what-alzheimers-disease/genetic-testing-alzheimers-disease
Genetic testing and Alzheimer's disease | Alzheimer Society of Canada
Genetic testing can sometimes help identify whether a person has a high or low chance of developing Alzheimer's disease. On this page, find out more about...
genetic testingdisease societyalzheimercanada
https://cri.utsw.edu/research/metabolism/
Genetic and Metabolic Disease Program - Children's Medical Center Research Institute (CRI) | Dallas...
Jun 21, 2024 - Children’s Medical Center Research Institute at UT Southwestern (CRI) is a joint venture of UT Southwestern Medical Center and Children’s ...
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https://www.genomenon.com/resource/genetic-prevalence-thymidine-kinase-mitochondrial-disease-combined-approach-clinical-literature-large-scale-genomic-database
Genetic Prevalence of Thymidine Kinase 2-Related Mitochondrial Disease: A Combined Approach Using...
This poster was presented at the 2026 MDA Conference.
2 relatedmitochondrial diseaseapproach usinggeneticprevalence
https://www.broadinstitute.org/news/genetic-predisposition-unveiled-diabetic-kidney-disease
Genetic predisposition unveiled in diabetic kidney disease | Broad Institute
Broad Institute is a multidisciplinary community of researchers on a mission to improve human health.
kidney disease broadgeneticpredispositionunveileddiabetic
https://med.stanford.edu/news/insights/2026/01/behind-the-science-epistasis-heart-disease-genes.html
Behind the Science: Epistasis, the sly genetic tag team behind some heart disease
Euan Ashley’s lab uncovers the workings of epistasis, a type of interaction between gene variants, that could possibly transform our understanding of inherited...
tag teamheart diseasebehindsciencesly
https://aapos.org/patient/patient-resources/genetic-info-patients
Patient Resources- Genetic Eye Disease - American Association for Pediatric Ophthalmology and...
disease american associationpatient resourcespediatric ophthalmologygeneticeye
https://www.nber.org/papers/w32181
Genetic Risk for Alzheimer’s Disease and Related Dementias: Cognition, Economic Behavior, and...
Founded in 1920, the NBER is a private, non-profit, non-partisan organization dedicated to conducting economic research and to disseminating research findings...
genetic riskrelated dementiaseconomic behaviordiseasecognition
https://guard.org.au/
Genetic, Undiagnosed And Rare Disease Collaborative | GUARD
rare diseasegeneticundiagnosedcollaborativeguard
https://gpad.liber3.eth.limo/
Genetic Polymorphism and Disease
geneticpolymorphismdisease
https://news.emory.edu/stories/2026/03/hs_lipoproteina_23-03-2026/story.html
Simple blood test can signal a silent genetic risk factor for heart disease, according to Emory...
simple blood testgenetic riskheart diseasesignalsilent
https://www.news-medical.net/news/20260422/Study-reveals-genetic-factors-influencing-SYNGAP1-encephalopathy-disease-severity.aspx
Study reveals genetic factors influencing SYNGAP1 encephalopathy disease severity
SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, psychomotor delay and,...
study reveals geneticfactors influencingsyngap1encephalopathydisease
https://www.ncbi.nlm.nih.gov/books/NBK584020/
Pediatric Genetic Cholestatic Liver Disease Overview - GeneReviews® - NCBI Bookshelf
The purpose of this overview is to:
liver diseasencbi bookshelfpediatricgeneticoverview
https://www.broadinstitute.org/news/study-finds-surprising-way-genetic-mutation-causes-huntingtons-disease-transforming
Study finds surprising way that genetic mutation causes Huntington’s disease, transforming...
Researchers studying brain cells from Huntington’s patients show that the mutation, which changes over decades, becomes toxic only later in life.
study finds surprisinggenetic mutationdisease transformingwaycauses
https://geneticalliance.org.uk/campaigns-and-research/rare-disease-day/rare-disease-day-2026/
Rare Disease Day 2026 - Genetic Alliance UK
Rare Disease Day is an international awareness day that takes place annually on 28 February (or 29 February in leap years). Thousands participate to support...
rare disease daygenetic alliance uk2026
https://www.genome.gov/news/news-release/genetic-carriers-sickle-cell-disease-higher-risks-blood-clots-across-diverse-ancestries
Genetic carriers for sickle cell disease have higher risks of blood clots across diverse ancestries
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
sickle cell diseasehigher risksblood clotsacross diversegenetic
https://www.genedx.com/
Genetic Testing for Rare Disease Diagnosis | GeneDx
GeneDx provides advanced genetic testing to help diagnose rare and inherited conditions—helping providers, patients, and partners find answers faster with...
rare disease diagnosisgenetic testinggenedx
https://www.grandviewresearch.com/industry-analysis/rare-disease-genetic-testing-market
Rare Disease Genetic Testing Market Size Report, 2033
Rare disease genetic testing market size was $1,293.15mn in 2025 and is projected to reach $3,883.76mn by 2033, at a CAGR of 14.87% from 2026 to 2033
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https://www.probablygenetic.com/
Probably Genetic | Free Genetic Testing | Rare Disease Genetic Testing
Free DNA tests for thousands of variants related to rare disease. No credit cards, no appointments, and no insurance necessary. Take our quiz to see if you...
probably geneticfree testingrare disease
https://news.wisc.edu/uw-madison-researchers-find-hidden-genetic-clues-upping-cardiovascular-disease-risk/
UW–Madison researchers find hidden genetic clues upping cardiovascular disease risk – UW–Madison...
Understanding how the change in the genome increases risk for CAD is a step toward potentially preventing its damaging effects and perhaps one day developing...
cardiovascular disease riskresearchers findhidden geneticcluesupping
https://www.news-medical.net/news/20260423/Study-identifies-new-genetic-pathways-driving-cardiometabolic-disease-risk.aspx
Study identifies new genetic pathways driving cardiometabolic disease risk
A study published today in PLOS Medicine has identified two new genetic pathways that contribute to cardiometabolic disease, which includes heart disease,...
study identifiesnew geneticdisease riskpathwaysdriving
https://geneticalliance.org.uk/campaigns-and-research/rare-disease-day/
Rare Disease Day - Genetic Alliance UK
Rare Disease Day is an important international awareness day that takes place annually on 28 February (or 29 February in leap years). This date was chosen...
rare disease daygenetic alliance uk
https://www.insideprecisionmedicine.com/topics/precision-medicine/new-markers-of-diabetes-and-heart-disease-revealed-via-genetic-study-in-indians/
New Markers of Diabetes and Heart Disease Revealed via Genetic Study in Indians | Inside Precision...
Apr 24, 2026 - A study in 3,000 Punjabi Sikhs has identified previously unreported molecular pathways that contribute to cardiometabolic disease.
heart diseasegenetic studyinside precisionnewmarkers
https://kidneyhealth4life.org.au/learning-centre/kidneys-and-kidney-disease/genetic-risks-of-kidney-disease/
Genetic Risks and Types of Kidney Disease | Kidney Health 4 Life
kidney disease health4 lifegeneticriskstypes
https://nebula.org/blog/is-addisons-disease-genetic/
Is Addison's disease genetic? | Decode your DNA and learn your risks!
May 7, 2024 - Is Addison's disease genetic? Upload your DNA data, explore genetic variants linked to this condition, and discover your polygenic score.
addisondiseasegeneticdecodedna
https://www.ncbi.nlm.nih.gov/books/NBK7014/table/von-willebrand.T.genetic_disorders_in_th/?report=objectonly
Table 4. [Genetic Disorders in the Differential Diagnosis of von Willebrand Disease]. -...
Genetic Disorders in the Differential Diagnosis of von Willebrand Disease
von willebrand diseasetable 4genetic disordersdifferential diagnosis
https://www.broadinstitute.org/news/genetic-variant-increases-risk-heart-muscle-disease-common-individuals-african-ancestry
Genetic variant increases risk of heart muscle disease common in individuals of African ancestry |...
A single mutation in the CD36 gene, present in 17 percent of people with African ancestry, increases a person's dilated cardiomyopathy risk by 33 percent.
increases riskheart muscleafrican ancestrygeneticvariant
https://dnascience.plos.org/2026/04/23/a-goldilocks-genetic-strategy-to-combat-tomato-yellow-leaf-curl-disease/
A Goldilocks Genetic Strategy to Combat Tomato Yellow Leaf Curl Disease - DNA Science
My favorite part of the arrival of spring is getting back to the garden – especially tomatoes. But I’ve learned not to…
yellow leafdna sciencegoldilocksgeneticstrategy
https://www.amgen.com/stories/2026/03/the-genetic-puzzle-of-heart-disease-inside-amgens-commitment-to-lpa
The Genetic Puzzle of Heart Disease: Inside Amgen’s Commitment to Lp(a) | Amgen
A hidden heart disease risk factor brings personal meaning and urgency to the work happening at Amgen.
heart diseasegeneticpuzzleinsidecommitment
https://www.genengnews.com/subject/alzheimers-disease/
Alzheimer's disease Archives - GEN - Genetic Engineering and Biotechnology News
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