Share your Story
Family Voices, The Arc and Genetic Alliance are interested in hearing your
advocacy story. The stories will be collected and shared with other
families. The online questionaire will close on August 19th 2011.
The Undiagnosed Disease Program at the NIH
On July 1st the Undiagnosed disease program stopped accepting new
application. It is suspected to only be a few months as the program
organizers take some time to catch up on all the applications they have
approved to attend. This the only program of its kind to service undiagnosed
individuals, bringing them individualized care based on their condition and
symptoms in hopes of arriving to a diagnosis.
The CAL Undiagnosed Diseases Research and Collaboration Act of 2011
On July 27th John Carter introduced a bill that would create an Undiagnosed
Disease Database at the National Institute of Health. The bill allow for an
environment for collaboration and networking when a patient faces an
undiagnosed disease. It would encourage growth, creation and expansion of
programs such as the Undiagnosed Disease Program.
Read
the entire bill
Contact your representative
New Syndromes, Shared in Orphanet newsletter http://www.orpha.net
July 2011 Newsletter
A hereditary progeroid syndrome without cardiovascular deficiencies
caused by a homozygous BANF1 mutation
The authors describe a new progeroid syndrome in two unrelated
patients. This syndrome partially phenocopies Hutchinson-Gilford
progeria syndrome (HGPS) but also exhibits distinctive features,
including the absence of cardiovascular deficiencies characteristic
of HGPS and a relatively long lifespan. A homozygous mutation in BANF1 (c.34G>A
[p.Ala12Thr]) was identified by exome sequencing and functional
analysis.
Read the PubMed abstract
Am J Hum Genet ; 650-656 ; 13 May 2011
August 2011 Newsletter
A multiple congenital anomalies-hypotonia-seizures syndrome caused
by a mutation in PIGN
The authors describe a new autosomal recessive syndrome in 7
members of 5 interrrelated consanguineous families. The patients
had dysmorphic features and multiple congenital anomalies
together with severe neurological impairment, chorea and
seizures leading to early death. Using homozygosity mapping, the
study identified the disease-causing mutation in PIGN, which
encodes glycosylphosphatidylinositol (GPI) ethanolamine
phosphate transferase 1, a protein involved in GPI-anchor
biosynthesis. The abundant expression of PIGN in various tissues
is compatible with the diverse phenotypic features observed in
the patients and with the involvement of multiple body systems.
Read the PubMed abstract
J Med Genet ; 383-389 ; June 2011
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