@raethompson.bsky.social
Reposted
Excited to share a collaborative study from the Solve-RD consortium published in Nature Medicine! 🧬🌍
"Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses" shows the potential of reanalyzing genomic data for undiagnosed rare diseases.
➡️ lochmullerlab.org/Solve-RD-rea...
"Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses" shows the potential of reanalyzing genomic data for undiagnosed rare diseases.
➡️ lochmullerlab.org/Solve-RD-rea...
March 20, 2025 at 2:04 PM
Excited to share a collaborative study from the Solve-RD consortium published in Nature Medicine! 🧬🌍
"Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses" shows the potential of reanalyzing genomic data for undiagnosed rare diseases.
➡️ lochmullerlab.org/Solve-RD-rea...
"Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses" shows the potential of reanalyzing genomic data for undiagnosed rare diseases.
➡️ lochmullerlab.org/Solve-RD-rea...
Reposted
📬We're excited to share new research from the lab!
🔬 Our new collaborative study published in Brain discovers a novel genetic cause of #rhabdomyolysis due to a variant in the ATP2A2 gene that affects the function of the intracellular ca2+ pump SERCA2.
Read more: lochmullerlab.org/ATP2A2_new_s...
🔬 Our new collaborative study published in Brain discovers a novel genetic cause of #rhabdomyolysis due to a variant in the ATP2A2 gene that affects the function of the intracellular ca2+ pump SERCA2.
Read more: lochmullerlab.org/ATP2A2_new_s...
March 12, 2025 at 7:00 PM
📬We're excited to share new research from the lab!
🔬 Our new collaborative study published in Brain discovers a novel genetic cause of #rhabdomyolysis due to a variant in the ATP2A2 gene that affects the function of the intracellular ca2+ pump SERCA2.
Read more: lochmullerlab.org/ATP2A2_new_s...
🔬 Our new collaborative study published in Brain discovers a novel genetic cause of #rhabdomyolysis due to a variant in the ATP2A2 gene that affects the function of the intracellular ca2+ pump SERCA2.
Read more: lochmullerlab.org/ATP2A2_new_s...