Familial Hyperinsulinism

As a bit of a follow up to the last post about genetic screening, I thought this article by Dr. Benjamin Glaser might be a good addition. Here is an exerpt: Mutations in ABCC8, KCNJ11, GLUD1, GCK, and HADHSC are known to be associated with FHI. About 45% of affected individuals have mutations in ABCC8 and about 5% havemutations in the coding region of KCNJ11. … Read more

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Saliva Screening for Genetic Mutations

Carriers of a genetic mutation caused by the ABCC8 gene which can result in children with congenital hyperinsulinism (HI), can now be tested at fertility clinics in many locations around the country through a simple saliva test.  The test, made by a California company, Counsyl, actually screens for 100 different rare disorders including HI.  An … Read more

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Save the Date: CHI Family Conference – San Diego – 2010

Save the Date CHI Family Conference June 18 & 19, 2010 San Diego, CA Exact Location TBA Congenital Hyperinsulinism International (CHI) invites you to attend the third Congenital Hyperinsulinism Family Conference. This conference is intended for individuals with Congenital Hyperinsulinism (HI) as well as  family members and caregivers of those with HI.  Speakers and participants … Read more

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CHI Accepted into NORD

In November, CHI (Congenital Hyperinsulinism International) qualified for membership to NORD, The National Organization for Rare Diseases. “This is really good news for CHI,” said Isabel Calderon the CHI Board of Directors liaison to NORD. “With this membership, CHI will be able to benefit from NORD’s many resources and services.” Prior to the creation of … Read more

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