This is still not the craftsy blog we've been advertising. Instead we bombard you with science(!!), which from this reporter's perspective is the most exciting thing on earth. I suppose most readers will think otherwise, so I'll try to make it as exciting or, at least, as informative as I can.
I've spent the last two days at conferences at Harvard Medical School in Boston. On Saturday, June 20, the Decibels Foundation, together with Children's Hospital Boston and Harvard Med, sponsored two "Frontiers" conferences for parents and the general public. The morning session was Frontiers in Usher Syndrome and the afternoon was Frontiers in Hearing Loss . These piggy-backed on a 3-day scientific conference, Molecular Biology of Hearing and Deafness . I'll report on the Sunday talks from that one as well.
Probably the best part of going to the meetings was getting to finally meet, in person, some long-time cicircle friends that I've known only via email for over eight years, and to see some local Boston friends again. But the science was pretty exciting too.
This report is organized as follows: Usher Syndrome, Hearing Loss in General, Miscellaneous, in case you feel like skipping around.
Frontiers in Usher Syndrome
Usher Syndrome causes both hearing loss and vision loss due to retinitis pigmentosa. There have been a great many new discoveries about Usher, including some promising treatments for retinitis pigmentosa just within the last few years.
The morning's first speaker was Prof. William Kimberling from the University of Iowa, who introduced Usher Syndrome. Some of the key points he made included
Prof. Wolfrum also answered something the scientist in me was wondering about: how can so many different genes cause Usher? Most of the 12 genes known to cause Usher are not similar to each other and yet they cause a similar disease. Prof. Wolfrum's theory is that the proteins made using the instructions coded for by the Usher genes all work together in big cellular machines (the USH protein "interactome"), both in the sensory cells of the retina as well as in the sensory hair cells in the cochlea. If any part of the machine is broken (i.e. one gene/protein), the whole thing grinds to a halt.
The last part of the morning was a panel discussion. On the panel were the parent of a 4-year-old with Usher I, a 45-year-old with Usher II diagnosed 14 years ago, a parent of a college student recently diagnosed with Usher I and the college student herself. The advice and life experience shared by these individuals was one of the highlights of the morning session. Some of the comments made included:
As a side-note, I observed something I had not seen before at a conference. During the morning session, there was both an ASL interpreter and a CART reporter -- nothing unusual about that. But in addition, there was a second ASL interpreter specifically for one individual. This interpreter sat directly in front of the person she was interpreting for, and had a bright light (a halogen desk lamp) illuminating her face and hands.
Frontiers in Hearing Loss
The whole weekend was not just about Usher. The afternoon session was about hearing loss in general. The first speaker in the afternoon was Prof. Heidi Rehm (pronounced like 'reem') of Harvard Medical School who is the Associate Director of the Harvard Medical School Center for Hereditary Deafness. Dr. Rehm gave a very clear introduction to what genes are and how they are inherited. Some important points made by Dr. Rehm include
Here are just bits and pieces from the Sunday talks and posters that were up.
About the Author: Lydia Gregoret was at one time a chemistry and biochemistry professor who studied protein structure and stability using both computers and laboratory experiments at the University of California, Santa Cruz. She then became a full-time at-home parent for about 8 years. In September of 2009 she embarks on a new career: she begins classes at Northeastern University for an audiology degree (AuD.) Lydia dreams of becoming a cochlear implant audiologist one day.