Having a rough time adjusting after being diagnosed, I've been through so much that last couple of months I've kinda been a wreck. Just didn't know if there was any support groups out there, I've always been the type of person to give someone the short off my back if there in need. I'm trying to stay positive and make the best out of the situation but it seems impossible , I've never heard of it till now nor did my family have history of it, is it really hereditary ?? Or is it stress ?

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Comment by JeffreySF on July 13, 2014 at 3:31pm
Comment by Tallgirl on July 13, 2014 at 8:09pm

I just learned that my great grandpa had a toupee, and that two males in his downline plus me currently have alopecia. Also, relatives have had diabetes, asthma and arthritis, and borderline lupus. Now...read this and Jeffrey's link above (including support groups in your area), then tell us what you think and feel!

Genetic studies lead to alopecia areata breakthrough

Trolling nearly 1 million polymorphic SNP markers in an alopecia areata genome-wide association study (GWAS) revealed genes shared with three other autoimmune diseases — type 1 diabetes, rheumatoid arthritis, and celiac disease. This discovery holds the promise that emerging therapies for those other diseases will prove effective in treating alopecia areata.

0802-Christiano

Angela M. Christiano, PhD: ‘Our studies demonstrate proof-of-concept that these drugs may also have efficacy in alopecia areata.’

Angela M. Christiano, PhD: ‘Our studies demonstrate proof-of-concept that these drugs may also have efficacy in alopecia areata.’

Angela M. Christiano, PhD: ‘Our studies demonstrate proof-of-concept that these drugs may also have efficacy in alopecia areata.’

Prominent alopecia areata investigator Angela M. Christiano, PhD, presented the results of this research during her presentation, “Basepairs to Bedside: Genetics and Immunology in Alopecia Areata,” at the Plenary session Friday. She collaborated with Columbia University immunologist Raphael Clynes, MD, PhD, in this research endeavor. Dr. Christiano is the Richard & Mildred Rhodebeck Professor in the departments of dermatology and genetics & development; vice chair and director of basic science research, department of dermatology; and director, Center for Human Genetics, Columbia University, New York.

“By our GWAS findings aligning with these other diseases, we were able to piggyback on the many studies that had already been done,” she said. “That enabled us to think of ways to interfere with the autoimmune process involved in alopecia areata.”

The process she referred to was the faulty upregulation of an immune signal that mistakes the hair follicle for an infected or dying cell, and therefore launches the release of cytotoxic T cells that attack the end organ. A key source for fueling those particular killer T cells in an autoimmune response is IL-15, and therefore, therapies could be aimed at blocking the IL-15 signal that sustains those killer T cells. Two FDA-approved small molecule drugs that interfere downstream in these signaling pathways include ruxolitimib, a JAK1/2 inhibitor, approved to treat the blood disorder myelofibrosis, and tofacitinib, a JAK3 inhibitor approved for the treatment of rheumatoid arthritis.

Drs. Christiano and Clynes conducted studies of ruxolitinib and tofacitinib in a mouse model of alopecia areata, even though neither of those drugs was developed for autoimmune disease of the skin. The research team studied the response of the C3H/HeJ mouse, a well-defined model for alopecia areata, by grafting affected tissue from the CeH/HeJ donor mouse and grafting it onto a group of recipient mice. Investigators then administered both drugs as a prevention strategy to one group of C3H/HeJ mice, and as a topical treatment of established disease in another group of C3H/HeJ mice that had lost their hair from the alopecia areata-grafted tissue. The preventively treated mice never lost their hair, and the topically treated mice with established disease experienced a regrowth of hair.

“We were very excited to find that both drugs restore hair growth in mice with established disease,” Dr. Christiano said. “Several drug companies are developing JAK inhibitors for a wide range of other disease indications. Our studies demonstrate proof-of-concept that these drugs may also have efficacy in alopecia areata.”

The investigators came to this point in their research after recent extensive GWAS research and earlier work with candidate-gene approach studies. Dr. Christiano began her research 15 years ago as part of the National Alopecia Areata Registry that collected DNA samples from among the 10,000 alopecia areata participants in the registry. With the earlier candidate gene approach, investigators sought genes from other related autoimmune diseases to determine whether those were relevant to alopecia areata. This approach proved to be mostly confirmatory of established genes in other autoimmune disorders.

However, the more advanced and unbiased GWAS investigation led to a promising discovery. In this study, the whole genome was blanketed with polymorphic SNP markers that cover all chromosomes and did not pre-select them on the basis of their roles in other diseases.

“We were essentially letting the genome tell us where the genes lie, rather than us trying to guess where the genes are,” Dr. Christiano said. “When we do that across a large enough number of markers, we cover the genome very densely with markers, allowing the truly significant ones to rise above the noise.”

The investigators compared a group of more than 1,000 alopecia areata patient samples with a group of more than 3,000 control individuals. Any commonalities shared equally between the two groups were discarded. It was the genes whose SNPs were differentially over-represented in alopecia areata versus controls that captured the investigators’ attention. Investigators discovered eight susceptibility genes that appeared to contribute to alopecia areata. Seven genes were unexpected and new, and one was a confirmatory HLA gene cluster. Through the GWAS studies, a trend clearly emerged, revealing significant overlap of susceptibility genes with the three other autoimmune diseases — type 1 diabetes, rheumatoid arthritis, and celiac disease.

“We are excited by this work because our first GWAS study using only 1,000 samples uncovered our first key eight genes. Based on comparisons with other complex genetic disease research, this is a very high yield for such a small number of starting samples. Yet despite the small sample, we have already hit upon three existing FDA-approved drugs that could potentially be used to treat alopecia areata,” Dr. Christiano said. “We have been guided by our genetic findings in a relatively short amount of time to lead us to selecting drugs that were not developed for alopecia, but are nevertheless showing impressive results in our pre-clinical studies.”

For Dr. Christiano, herself a patient with alopecia areata, these findings represent the first milestone of human genetics and personalized medicine in transforming the future of patient care in this disease.

 

Comment by JeffreySF on July 13, 2014 at 9:16pm

Thanks for sharing TG.

I still haven't found a trace of alopecia in my lineage.

Comment by Rose Marie' on July 14, 2014 at 3:35pm

Hi Jeffrey 

It doesn't need to be alopecia....does your family have other autoimmune conditions (Asthma, Eczema, RA, Lupus, Thyroid Conditions, Diabetes, .....there are around another 80 auto immune diseases).

Thanks for posting this Tall girl...so very interesting and hopeful. :)

Rosy

Comment by JeffreySF on July 14, 2014 at 8:22pm

My father has diabetes and my brother had asthma.

Comment by Travis Tirrell on July 15, 2014 at 1:26pm
My stomach has been bothering me way before the hair loss and still is but since I don't have health insurance or a primary care doctor I can't keep taking random visits to the hospital. Could my stomach issues be related to it ?
Comment by Rose Marie' on July 15, 2014 at 3:05pm

Hi Travis 

My daughter does not just have alopecia I'm afraid.  She also has a horrible auto immune condition called 'Crohn's Disease' which causes a lot of pain and discomfort...it effects her whole intestinal tract, from mouth to the other end.  In her case she has major issues with the area around her ileum (which is very common with crohns).  If you are having stomach problems please go to the doctor as even though you more than likely don't have 'crohns' ....celiac's disease is another common problem for those with alopecia. It is better to get everything checked and to be sure that you get as much help as possible.

Rosy

Comment by Aimee on July 15, 2014 at 7:35pm

Hi, Travis, I was diagnosed with alopecia 5 years ago.  Two years after that, I was diagnosed with "Segmental colitis consistent with Crohn's".  It is completely under control with medication.  You need a colonoscopy to get diagnosed, though.  Sadly, sometimes people have multiple autoimmune issues (I pray these are my only two because they are totally manageable!)   If you want to message me, I can give you the name of my insurance person who offers short-term health insurance until you can sign up for health insurance through the Affordable Care Act.

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