2. Anna Gloyn – the gene detective

Released 28 November 2023

The story of neonatal diabetes continues as we hear about the remarkable science that led to the genetic diagnosis and new treatment that transformed Jack’s life in episode 1. In this episode Maggie and Andrew talk to Professor Anna Gloyn, the scientist who discovered the gene that was usually altered when very young babies are diagnosed with neonatal diabetes.

More about Anna Gloyn

Anna Gloyn

Anna Gloyn is now Professor of Paediatrics and Genetics at Stanford University and details about her and her fantastic scientific achievements can be found here https://med.stanford.edu/profiles/anna-gloyn

The paper that describes her discovery of the gene for neonatal diabetes and the other follow-on science described in the episode can be read here https://www.nejm.org/doi/full/10.1056/nejmoa032922

Other first author papers from Anna arising from her 3 years work in Exeter between 2000 and early 2004 included

PMID: 11942315

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.

Gloyn AL, Ellard S, Shield JP, Temple IK, Mackay DJ, Polak M, Barrett T, Hattersley AT. Diabetologia. 2002 Feb;45(2):290.

PMID: 12540637Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.

Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy JC, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM. Diabetes. 2003 Feb;52(2):568-72

PMID: 12941786

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.

Gloyn AL, Noordam K, Willemsen MA, Ellard S, Lam WW, Campbell IW, Midgley P, Shiota C, Buettger C, Magnuson MA, Matschinsky FM, Hattersley AT.Diabetes. 2003 Sep;52(9):2433-40.

PMID: 15292329

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.

Gloyn AL, Cummings EA, Edghill EL, Harries LW, Scott R, Costa T, Temple IK, Hattersley AT, Ellard S.J Clin Endocrinol Metab. 2004 Aug;89(8):3932-5.

PMID: 15718250

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER, Temple IK, Mackay DJ, Shield JP, Freedenberg D, Noyes K, Ellard S, Ashcroft FM, Gribble FM, Hattersley AT.Hum Mol Genet. 2005 Apr 1;14(7):925-34. doi: 10.1093/hmg/ddi086. Epub 2005 Feb 17.PMID: 15718250

PMID: 16670688

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

Gloyn AL, Diatloff-Zito C, Edghill EL, Bellanné-Chantelot C, Nivot S, Coutant R, Ellard S, Hattersley AT, Robert JJ.Eur J Hum Genet. 2006 Jul;14(7):824-30.

Genetic testing for neonatal diabetes

Details about genetic diabetes are available on our website www.diabetesgenes.org with the specific details about diabetes diagnosed in the first 9 month of life https://www.diabetesgenes.org/about-neonatal-diabetes/

Genetic testing for neonatal diabetes is only appropriate for people diagnosed under 9 months, and is not performed if the age of diagnosis is greater than this as after this age the testing is always negative. Most cases under 6 months will have a genetic cause found but it is far lesslikely between 6- 9 months.

Please help us support getting genetic testing to patients who cannot afford it

Please support the Neonatal diabetes crowdfunder campaign raising money to support genetic testing when patients cannot afford it especially those from low or middle income countries can be found here : https://exeter.hubbub.net/p/exeterdiabetes/pitch/