Pages
- LDLR
- TCHH
- MCOLN1
- HEXA
- Gaucher Disease Type 1
- Rare Diseases
- CFTR
- SMN2
- SGCE
- PKD2
- MED12 : mediator complex subunit 12
- PTPN11 : protein tyrosine phosphatase non-receptor type 11
- DMD
- HIBCH
- MASP1 : MBL associated serine protease 1
- CNGB3 : cyclic nucleotide gated channel subunit beta 3
- ACADS : acyl-CoA dehydrogenase short chain
- APRT : adenine phosphoribosyltransferase
- TREX1 : three prime repair exonuclease 1
- COL4A4 : collagen type IV alpha 4 chain
Blogs
- Sudden loss of total-body hair due to faulty gene triggered by stress
- Preventive Genomics: The Future of Healthcare?
- From Genome to Syndrome : The Rare Disease Riddle
- The tale of an extra chromosome “Down’s Syndrome”
- Atrial Fibrillation: Did My Heart Just Skip a Beat?
- Rare Diseases: We are In This Together
- Infographic: World Rare Disease Day
- Yeh Diwali DNA-wali
- COVID-19: Basics of Drugs in progress
- How Rare is Rare?
- All For One - Caring For The Families With A Rare Disease - Part 1
- All For One - Caring For The Families With A Rare Disease - Part 2
- Rare But Real: The Inspiring Story Of Dhanya Ravi
- Genomics for Children with Rare Conditions: A Conversation with Dr. Puja Grover
- World Alzheimer’s Day: Growing Older with Alzheimer's Disease