Sunday, January 18, 2015

Mapping Cat Genomes - PKD Mutation in Same Gene as Humans: PKD & Facebook - 5 Years Later

PKD Research

From Genetic Literacy Project, Ewen Callaway | January 14, 2015 | Nature News

Expanded efforts to sequence cat genomes may provide clues to human disease


Cats may have beaten dogs on the Internet but felines have been a rare breed in genetics labs compared with their canine counterparts. Now, at last, cats are clawing their way into genomics.

At a meeting this week in San Diego, California, a close-knit group of geneticists unveiled the first results from an effort to sequence the genomes of 99 domestic cats. The work will benefit both humans and felines, the researchers say, by mapping the mutations underlying conditions that afflict the two species, such as kidney disease.

In 2004, a team led by geneticist Leslie Lyons of the University of Missouri in Columbia (and owner of two female cats, Withers and Figaro) discovered that mutations that cause polycystic kidney disease — a major cause of renal failure in older individuals — occur in the same gene in humans and cats4. Cat versions of type 2 diabetes, asthma, retinal atrophy and numerous other conditions have close similarities to human disease. Cats can also become infected with a virus that is closely related to HIV and experience symptoms similar to those of people with AIDS.

Lyons’ team is cobbling together funding from anywhere it can find it. The researchers are asking private owners, breeders and even pet-food companies to donate the U.S. $7,500 needed to sequence the genome of a single cat, which could be one of a donor’s choice.

With the money raised so far, the team has sequenced the genomes of 56 cats, including fancy breeds such as Burmese; cats with specific diseases; and a kitten named Dragon and his parents Ares and Marcus — the hope is to use the feline trio to narrow down the genetic basis for traits they share, such as their silver, curly coats. [Read more]


From PKD Foundation

PKD Foundation Fellowships

For decades, the PKD Foundation has funded research aimed at accelerating treatments to patients so that one day no one will suffer the full effects of polycystic kidney disease. We are excited to announce that the Foundation has released a Request for Applications (RFA) for two fellowships, which will each be funded for $50,000 a year for two years (pending submission of first year report).

The PKD Foundation is interested in fostering research in the area of polycystic kidney disease with the goal of furthering our understanding of the physiological, biochemical and genetic mechanisms of this disease. This fellowship is designed to allow trainees to obtain significant research experience as they initiate careers in polycystic kidney disease research.

Eligibility

Fellows may submit a proposal that examines any aspect of polycystic kidney disease biology. Applicants must:

Hold an M.D. or Ph.D or the equivalent degree.

May not have completed more than three years of research training after completion of the M.D. (or equivalent) or two years of postdoctoral research training after the Ph.D. at the time of application submission.

Complete research under the direction and mentorship of a sponsor.

Not hold another full fellowship award although institutional supplemental support is acceptable.
Commit a minimum of 75% of time to research during the fellowship period.

Application Procedure

Fellowship page application coming soon!

The electronic application opens on Jan. 26. Please see the Application Sections tab for detailed application information.




Living with PKD

From WTNH, Channel 8, New Haven, CT, By Ann Nyberg-News Anchor

Living with Polycystic Kidney Disease

NEW HAVEN, Conn. (WTNH)– Polycystic Kidney Disease is hereditary, and patients will need a kidney transplant.

Antoinette Necklas of Guilford, her mother, brother, and sister, have the disease. Necklas just went on the transplant list with hundreds of others in the state. She and her doctor, Joni Hansson, talk about the disease and what it’s like to go on such a list.

“At first it was really scary, like I didn’t know what to expect,” said Necklas. “You go through a lot of testing, so not everybody can get a transplant. You have to get for an EKG, you have to go through a stress test, you have to make sure your colonoscopies are up to date, breast exams, and teeth cleaning. The person donating the kidney has to go through testing also. They want you to be healthy and the person who is going to donate.”

“We’re hoping to keep her kidney function stable,” said Dr. Hansson. “When people have Polycystic Kidney Disease, probably the most beneficial thing you can do for them is to control their blood pressure, control their blood pressure with certain medications early on, make sure they stay well hydrated, and avoid medications that can actually harm the kidney and follow over time.”

Necklas, a mother of three, remains hopeful, just like so many others, that she will find a donor.




From GlobalNews, Abbotsford, British Columbia, Canada, By Amy Judd

Abbotsford Police inspector donates kidney to department detective

VANCOUVER – Inspector Kevin Wright of the Abbotsford Police Department is set to give one of his colleagues a very important gift this week. He is donating one of his kidneys to Detective Roy McBeth, a Domestic Violence Unit investigator.

“I’m incredibly humbled and quite overwhelmed,” said McBeth of the gesture.

He has been with the department since 2004 and has faced many challenges in his job and in his role as an athlete and competitive cyclist. However, his greatest challenge was in the form of a medical diagnosis, which indicates that the degenerative kidney disease, Polycystic Kidney Disease (PKD), identified in his youth, is now creating a medical emergency.

Based on his diagnosis, McBeth would likely be facing a future involving kidney failure and dialysis. PDK runs in McBeth’s family, so the potential donor pool was narrowed down to family and co-workers. With some reluctance, McBeth appealed for help in June, 2014, and that is when Wright, along with many others, stepped forward.

Wright turned out to be a match and on Wednesday, he will become a living kidney donor for McBeth. [Read more]




From KCRG, ABC Affiliate, Cedar Rapids, Iowa, By Chris Earl, KCRG-TV9

The Facebook Kidney Story: Five Years Later

CEDAR RAPIDS — Life moves on for both John Burge and Nick Etten but these two will be forever intertwined by what’s inside.

It was more than five years ago when these two men emerged from a conference room at the University of Iowa Hospitals and Clinics with a story that would stretch from Iowa to newspapers in Germany, Norway and Russia.

In September 2009, John’s son, Matthew, put out a post that his father, diagnosed with polycystic kidney disease, required a transplant. Matthew wrote on Facebook that his dad needed a new kidney.

“It’s genetic and that runs through my family, which is part of the reason looking outside the family was so important in the first place,” said Burge.

Nick, then 24 and, like Matthew, a student at Kirkwood at the time, replied that he would offer up his kidney.

That is how a global news story is made.

It’s also how a life is extended.

John Burge is now 55 and still living in the same Cedar Rapids home as at the time of the transplant. John and Nick, now 29, wear shaggy beards for the winter, giving them a far different appearance than they did in December 2009, when the operation took place.

Yet this bond will always remain for the two men. One giving up a kidney to save the other.

“There’s not a day that goes by where I don’t think about it,” Burge said about the donation Thursday. “What a wonderful gift I’ve been given and the opportunity to live my life like I was before.”

Burge was able to take in the juice of life, the milestones that any father would treasure and cherish always.

“My daughter got married this year and that was huge, my ability to get up there and dance with her and that moment and that would not have been possible without that transplant.”

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