Hi, Wesley!
I have heard that there are a few places collecting genetic data of some sort or another, but I'm not certain just what.
Well, let's see. Here is what the NMSS is involved in:
Quote:
The MS DNA Bank at the University of California, San Francisco is looking for information from families with one person with MS (simplex families), and those with more than one person with MS (multiplex). In a simplex family, the parents are required to participate. If this is not possible, an unaffected sibling can serve as a substitute. Unaffected siblings and the spouse can participate as well. In multiplex families, participants must include two siblings with MS, their parents (if possible) and unaffected siblings. If extended family (e.g., cousins) members have MS, they and other relatives are usually asked to participate.
MS DNA Bank
Department of Neurology
University of California at San Francisco
513 Parnassus Avenue, Box 0435
San Francisco, CA 94143-0435
E-mail:
msdb@itsa.ucsf.eduWebsite:
http://www.ucsf.edu/msdb/Quote:
Tissue donor programs that provide brain tissue for researchers studying the pathology of multiple sclerosis-its nature, cause, and effects on the brain-are extremely important. The National MS Society supports two MS tissue banks, facilities that provide resources for researchers studying multiple sclerosis.
The two centers are the Rocky Mountain MS Center and the MS Human Neurospecimen Bank.
The NIH has this going, also:
Quote:
MADGC
The Multiple Autoimmune Disease Genetics Consortium (MADGC) is a group of genetic researchers who have joined efforts to identify and understand the genes that autoimmune diseases, including multiple sclerosis, have in common. If at least 2 members of your family are affected with different autoimmune diseases from the list below, your family may qualify to participate in this important research study.
Multiple Sclerosis
Rheumatoid Arthritis
Juvenile Rheumatoid Arthritis
Systemic Lupus
Type I Diabetes
Ulcerative Colitis or Crohn’s Disease
Psoriasis
Autoimmune Thyroid Disease
Sjogren’s Syndrome
Participation includes a brief telephone interview and providing a blood sample, which can be drawn at your local clinic or MD’s office.
To learn more about this NIH-funded study, visit
http://www.madgc.org/or call toll-free to either of these consortium members:
EAST: North Shore University Hospital
Manhasset, NY 1-877-698-9467
WEST: University of Minnesota
Minneapolis, MN 1-888-226-8636
I wonder what all the University of California is actually studying regarding DNA? Ok, the University of California IS studying the chromosome relationships, Wesley.
I gotta say, this website is really interesting! Everybody should check this one out! http://www.ucsf.edu/msdb/ Quote:
.... Knowledge of the genetic events leading to MS will create new opportunities - unimaginable today - to prevent, treat and cure this terrible disease.
Our strategy for fueling gene discovery in MS relies on the meticulous scanning of the entire genome of patients and their relatives in order to identify small chromosomal regions linked to the disease. Once discovered, these genomic segments are examined in detail to determine the exact location and characteristics of the MS-associated genes. As we reported to you previously, our "first pass" of the MS genome identified 19 different chromosomal regions harboring disease susceptibility genes, supporting the long-held view that multiple genes participate in this disorder. Seven of those were recently confirmed. ....
Ok, I see. The NIH study (in 2005) just published some findings that are really interesting. It "appears" that MS is not as closely associated with the other "autoimmune" diseases as was originally thought and/or expected.
Quote:
http://www.behrenslab.org/images/pdfs/madgc_ajhg.pdf
....In this study, we show that a relatively common variant
of PTPN22, 620W, confers susceptibility for four different
autoimmune disorders: T1D, RA, SLE, and Hashimoto
thyroiditis. There have been initial reports of separate
associations of PTPN22 with three of these diseases
(Begovich et al. 2004; Bottini et al. 2004; Kyogoku et al.
2004). This is the first reported association with Hashimoto
thyroiditis. The OR for Graves disease was 11,
but our sample size was inadequate to definitively address
this question. However, two recent reports have shown
clear evidence of association with Graves disease (Smyth
et al. 2004; Velaga et al. 2004). In contrast, the lack of
association with MS is of interest, since the sample size
of MS cases in this data set (n = 120 ) provides a reasonable likelihood of detecting such an association. For this analysis, a case sample size of 120 has 62% power to detect an OR of 1.8, under the assumption of a control risk-allele frequency of 0.085. Furthermore, this lack of association has recently been confirmed in a larger MS
data set (Begovich et al. 2005).....
The absence of an association with MS appears to
imply that lowered thresholds for TCR signaling may not
have an important role in the predisposition to MS, at
least at stages of T-cell differentiation in which PTPN22
levels are critical for regulation. This is somewhat surprising,
given the wealth of data implicating T cells in
the pathogenesis of this disease (Haffler 2004). However,
knowledge is still very incomplete concerning exactly
which T-cell subsets depend on PTPN22 for regulation.
(Criswell et al.: PTPN22 and Familial Autoimmunity)
Overall, phosphatases have a negative regulatory function
in T cells, and there may be other phosphatases,
such as PTP-PEST (another Csk-binding phosphatase),
that might serve a function that is redundant to PTPN22
in certain cell types (Mustelin et al. 2004). It should also
be pointed out that PTPN22 is broadly expressed in hematopoietic
cells, and, thus, the mechanism for disease susceptibility may extend beyond T cells (Begovich et al. 2004). Knowledge of the regulatory circuits controlled by phosphatases in T lymphocytes (or other cell types), combined with population-genetics data such as we describe here, may eventually make it possible for researchers to identify the critical lymphocyte subsets and pathogenic mechanisms that are involved in the different autoimmune diseases. ....
Interesting.........!
Deb
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