New Bardet-Biedl syndrome gene

Posted by & filed under Part 29: EYE, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT.

Nat Genet. 2006 May;38(5):521-4. Epub 2006 Apr 2.
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS
locus.

Stoetzel C. et al.

This french group identified a new gene mutated in up to 20% of the patients with Bardet-Biedl syndrome.

For information on retinitis pigmentosa which affects patients with Bardet-Biedl syndrome, please see chapter 235.

Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

DCA for congenital lactic acidosis

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children.
Pediatrics. 2006 May;117(5):1519-31
Stacpoole PW et al.

This landmark study is the first to evaluate DCA in a controlled trial for children with mitochondrial disorders. Although there was no improvement in neurological outcome, the drug was proven to be safe. Perhaps earlier administration or administration at higher doses could have improved the outcome.

For more information on mitochondrial disorders, see part 10 of OMMBID.

Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Lysosomal Disease Network 3rd Annual Scientific WORLD symposium

Posted by & filed under Meetings, Part 16: LYSOSOMAL DISORDERS.

Posted on behalf of Dr Chester B. Whitley:

Lysosomal Disease Network 3rd Annual Scientific WORLD Symposium 2006
December 7-9, 2006
(Abstract deadline: July 1, 2006)
Location
Contemporary Resort at Walt Disney World, Orlando, Florida

Call to make your hotel reservations: 407-824-3869. Be sure to mention the Lysosomal Disease Network WORLD Symposium for your discounted room rate.

Online Abstract Submission Deadline is July 1, 2006
Abstract submission is now open! Please go to www.LysosomalDiseaseNetwork.org.

Registration is now open!
Please go to www.LysosomalDiseaseNetwork.org or call 800-776-8636 or 612-626-7600 to register.

Overview

The goal of the Lysosomal Disease Network annual symposium is to provide an interdisciplinary forum to explore and discuss specific areas of interest related to lysosomal diseases.

Participants

The symposium is appropriate for clinicians, geneticists and genetic counselors, neurologists and neuropsychologists, researchers, nurses and other health care professionals as well as patients and families, patient/family support organizations and industry professionals.

Disease Focus

Batten disease / Fabry disease / Gaucher disease / Leukodystrophies / Mucolipidosis / Mucopolysaccharidosis / Oligosaccharidosis / Pompe disease

Accreditation

The Lysosomal Disease Network is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians. An application for credit has been filed and final determination of credit is pending.

The Final Program with accepted platform and posters titles, and a detailed agenda, will be available this summer.

Download the brochure (pdf)

Ethylmalonic encephalopathy

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

ETHE1 mutations are specific to ethylmalonic encephalopathy.
J Med Genet. 2006 Apr;43(4):340-6.
Tiranti V et al.

In this article, mutations in ETHE1 were identified in 29 patients with typical ethylmalonic encephalopathy, while no ETHE1 mutations were identified in 11 patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria.

For more information on mitochondrial disorders, please see part 10 of OMMBID

Thank you very much in advance for your contributions to this blog.

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Epilepsy in Menkes disease

Posted by & filed under Part 14: METALS.

Epilepsy in Menkes disease: analysis of clinical stages.
Epilepsia. 2006 Feb;47(2):380-6.
Bahi-Buisson N et al.

12 patients with Menkes disease are studied. Their epilepsy is characterized by three successive periods:
early focal status
infantile spasms
myoclonic and multifocal epilepsy

For more information on Menkes disease, please see chapter 126

Thank you very much in advance for your contributions to this blog.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

RAMEDIS, the Rare Metabolic Diseases Database

Posted by & filed under Part 03: GENERAL THEMES, Websites.

Ramedis is a web-based information system for inborn errors of metabolism. Clinical information is entered on specific cases by clinicians world-wide, and can be analyzed easily. This makes it a perfect system for studying rare disorders. It now comprises over 700 patients with over 90 disorders.

Please visit Ramedis for more information.

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Mitochondrial medicine course

Posted by & filed under Courses, Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

Orphan Europe Academy and the Nijmegen Centre of Mitochondrial Disorders organise the first course on Mitochondrial Medicine.

Location: Nijmegen Medical Centre, Netherlands
Date: 28-30 June 2006

For more information, visit:

http://www.orphan-europe-academy.com/course.php?courseID=12&topic=synopsis

Thank you very much in advance for your contributions to this blog.

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Abase: Anthropometry on handheld computers

Posted by & filed under Part 22: CONNECTIVE TISSUE, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT.

This free powerful tool for handheld computers (PDAs), devised by Andreas Zankl, permits you to plot anthropometric data on your hand held (height, weight, head circumference, eyes, ears, nose, mouth, chest, hands, feet). It compares your values to accepted reference values for USA, Canada, UK or Switzerland. The results are displayed in centiles, standard deviations or graphs. It is a must have for the busy geneticist.

Please visit www.medgen.unizh.ch/abase/ for more information.

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator