As we come together for Rare Disease Day 2025, we celebrate progress while acknowledging the challenges ahead for the millions affected by rare diseases worldwide. Though each rare disease may impact only a few, the collective reality is striking—over 7,000 known conditions affect 1 in 10 people globally, with approximately 80% linked to genetic causes. For Rare Disease communities, genetics research is the backbone of discovering new conditions, unlocking a pathway to diagnosis – and eventually to more effective symptom management or root-cause treatment of the disorders. Hundreds of rare genetic diseases continue to be discovered each year, with each discovery leading to the formation of a new grassroots community of families and researchers coming together to work towards this common goal.
To highlight the impact of genetic research on rare diseases, we’re sharing two key updates:
- Sharing Insights from the 2024 American Society of Human Genetics (ASHG) Conference: We polled geneticists about their favorite genes and heard the personal stories that fuel their work.
- Introducing Geneial’s Rare Registry Catalyst Program: We’re inviting patient advocacy groups and researchers to join a waiting list for our secure platform designed to establish new and enhance existing rare disease registries in order to accelerate research and improve quality of life for Rare Disease communities.
ASHG 2024 Poll Results: Favorite Genes and Their Impact
We asked people at ASHG to share their “favorite gene and why” and received over 40 different unique entries reflecting a wide range of scientific interests and personal experiences. The 40 genes were:
APOE1, APOE, APOL gene family, ATP11A, ATP7B, BRCA, CSMD1, CYP7A1, DDX3X, DMD, ERG, FOXG1, HOXA2, IFNGR1, JAG1, LCT, LINC00607, MCM6, MGMT, MTHFR, MTOR, MYH7, NF1, OS9, OTC, PARP2, PCSK9, PPM1D, PPP1R35, RERE, ROI1, RYR1, SLCO1B1, SLC6A19, SST, STAG2, TET2, TP53, TSHR, USH2A
Common Themes: Why These Genes Matter
Some common themes helped explain why these genes are so meaningful to the researchers who study them.
1. Personal Career Impact – Many respondents chose genes that have shaped their professional journeys, highlighting how deeply personal genetic research can be:
- “RYR1 – I discovered it!” (linked to rare muscular disorders)
- “ATP11A – My thesis project”
- “PPP1R35 – Did the novel gene discovery linking to microcephaly”
- “PARP2 – It’s my dissertation”
- “ERG – First knock-out gene I worked with”
Scientists often dedicate years to understanding a single gene’s role in health and disease, with their careers intertwined with these discoveries.
2. Gene function and Scientific Significance
Some genes were chosen for their unique biological roles or historical importance in genetics:
- “NF1 – Because it has a gene (OMG) in its intron” (associated with Neurofibromatosis type 1, a rare genetic disorder causing tumors along nerves)
- “LCT/MCM6 – It tells us the evolutionary history of diet and migration” (linked to lactose intolerance, with broader evolutionary implications)
- “LINC00607 – Long non-coding RNA that may be involved in interacting with chromatin modifiers”
- “SST – Favorite neuron subtype”
- “ERG – It’s a master regulator of endothelial cell homeostasis” (mentioned twice, reflecting its role in vascular biology)
- “DMD – Largest gene known in human genome at 2.3 Mb. It spans 79 exons” (linked to Duchenne muscular dystrophy, a rare and severe muscle-wasting disorder)
3. Impact on Health and Treatment
Genes were also selected for their potential to improve patient outcomes, particularly through precision medicine:
- “PCSK9 – It’s one of the successful genes which have a drug now!” (used to develop cholesterol-lowering drugs)
- “TP53 – Cancer tumor suppressor. More TP53, less cancer”
- “MGMT – It is associated with temozolomide response” (relevant for cancer treatment)
- “SLC6A19 – Protective gene for chronic kidney disease”
- “MTHFR – If you have a difference in MTHFR, you should take vitamins” (linked to folate metabolism, with implications for rare metabolic disorders)
These choices highlight the promise of genetic research in developing targeted therapies, especially for conditions with limited treatment options, including rare diseases.
4. Connection to Rare Diseases
Several genes were selected because of their direct link to rare disorders, emphasizing the critical role of genetic research in improving diagnosis and treatment:
- “JAG1 – My first undiagnosed patient had it” (associated with Alagille syndrome, a rare genetic disorder affecting the liver and other organs)
- “ATP7B – Wilson Disease, 1st I ever worked with” a rare copper metabolism disorder
- “CSMD1 – I identified CSMD1 enhancer variant that leads to intellectual disability”
- “PPP1R35 – Did the novel gene discovery linking to microcephaly”
Finally, many of the 40 genes mentioned by poll participants are directly linked to rare disorders, and the reasons for their selection as “favorite” often stem from career-defining research or personal encounters with patients.
Geneial’s Rare Registry Catalyst: Powering Rare Disease Research
At Geneial, we’re dedicated to advancing rare disease research with our cutting-edge registry platform. To amplify our impact, we’re launching the Rare Registry Catalyst application—an opportunity for patient advocacy groups and researchers to join a waiting list and help us secure funding to bring this vision to life.
The secure, state-of-the-art Geneial platform streamlines capturing, sharing, and analyzing longitudinal data. We are seeking to support new registries and also use our AI tools for data transformation to support the harmonization and integration of existing studies, especially with our ability to read and write to REDCap simplifying data management and IRB concerns. Once funding is secured, we’ll select a limited number of registries to launch or enhance. If you or someone in your network could benefit from Geneial’s Registry Platform, we invite you to fill out our Rare Registry Catalyst interest form today!