• A Different B & B – One night stay
• American Business Solutions – Donor Board
• Bourbons – $25 Gift Card
• Brewery Becker – $50 Gift Card
• Brighton Bar & Grill – $50 Gift Card
• Buffalo Wild Wings – $25 Gift Card
• Burrough’s Roadhouse – Venue/Raffle
• Carl’s Golfland – Range Card
• Cattails Golf Club – Golf for 4
• Cello Ristorante – $25 Gift Card
• Champ’s Pub – 3-$25 Gift Cards
• Chemung Hills Golf & Banquet Center – Golf for 4
• Ciao Amici’s – $25 Gift Card
• Diamonds – $25 Gift Card
• Gravity Bar & Grill – Dinner for Two ($100)
• HVS Recreation & Community Ed – 1 Year Family Membership
• Lakelands Golf & Country Club – Golf for 4
• M3 Investments – $400 toward shirts
• Marv’s Meats – $100 Gift Card
• Oak Pointe Country Club – Golf for 4
• Prestwick Village Golf Club – 4 Rounds of Golf
• Rolisons Hardware – Sleeping Bag
• Runnin’ Gear – 2 Pair Shoes for 1st place M/W
• Running Lab – Race Bibs
• Sagano Japanese Bistro & Steakhouse – $30 Gift Card
• Salon Head West – Gift Card
• Silver Pig – $25 Gift Card
• Stout Irish Pub – $25 Gift Card
• The Pound – $25 Gift Card
• Third Monk Brewing Company – Beer Tasting Party for Two/2 Growlers
• Witch’s Hat Brewing Company – Mug Club Membership/Shirt/Glass
• Jeffery Gold – Half of the cost of the shirts

Pictures from the event will be posted on the Miles for Mia website soon!

Thanks to all the participants and additional donations from family and friends, we raised close to $7,000. All proceeds went directly to the Genetic Disease Foundation in memory of Mia. Save the date for next year: Saturday, June 1, 2019!

Visit the Miles for Mia website for event registration information or donate online.

Purchase “An Ordinary Day” on Amazon.

The program trains postgraduate obstetrics and gynecology physicians to develop expertise in the evaluation and management of women with genetic predisposition to breast, ovarian, and other cancer gene mutations and breast diseases. Pearlman is part of a multidisciplinary team with specific expertise in breast cancer and BRCA, and other gene mutation management.

This gift will support the education of Dana Scott, M.D., breast health fellow, and emphasizes the importance of genetic testing with the intent to improve and increase resident education about improving cancer genetic screening among women by obstetrics and gynecology physicians nationwide.

“It’s very satisfying when your research efforts lead to new diagnostics or treatment for patients suffering from rare diseases.” This is the experience of Dr. Robert J. Desnick, whose pioneering work as a researcher and clinician has improved patient care and prevented thousands of cases of rare, genetic diseases.

Dr. Desnick has cared for and counseled patients suffering from genetic conditions for more than 40 years. His research efforts have focused on the development of therapies for Fabry disease, Niemann-Pick B disease, and the Acute Porphyrias. He has also made an impact by paving the way to prevent certain recessive, neurodegenerative genetic conditions through prenatal and premarital carrier screening. Because of Dr. Desnick’s work, Mount Sinai now offers next generation sequencing for nearly 300 debilitating neurological diseases of children. The screening tests are offered routinely by the Genetic and Obstetrical physicians at the Icahn School of Medicine at Mount Sinai, where he serves as Dean for Genetics and Genomic Medicine.

Although he had an early interest in science, Dr. Desnick did not set out for a career in genetics or medicine. His introduction to medical genetics began as an undergraduate student majoring in humanities at the University of Minnesota. He became interested in the subject after taking an introductory course in human genetics taught by Dr. Sheldon Reed, who coined the term “genetic counseling” and who first developed the field. This launched a career spanning four decades at the forefront of medical research.

“I have seen a lot of patients and I have seen a lot of suffering, and it’s very difficult,” says Dr. Desnick. “When your research leads to a new treatment, it can provide treatment for all the patients with the disease. It is a most rewarding experience, and only encourages you to continue efforts to treat and cure rare diseases – that has been a major focus of my career.”

Dr. Desnick continues by saying, “I think the time for developing new treatments, cures, and prevention strategies has never been better.” To facilitate this effort, he also has focused on training the next generation of medical geneticists and research experts so future patients will have expert medical care.

Precision medicine (PM) uses individualized patient data to accurately and rapidly diagnose disease, better predict the outcomes of medical issues, and treat illnesses more precisely and effectively. Currently, medical problems with strong genetic underpinnings such as birth defects, neurodevelopmental delays, and inborn errors of immunity are ones that typically manifest during infancy, childhood and/or adolescence and where a PM approach can be transformative. Moreover, these types of conditions can lead to diagnostic odysseys, during which young patients are subjected to extensive medical testing for months or years, families wait anxiously for definitive answers, and effective therapies, when available, are delayed. The MCHDI’s exciting new Pediatric Precision Medicine Initiative, will improve outcomes by applying state-of-the-art genomic technologies as early as possible in the course of a child’s disorder.

Recent advances in genomic medicine have enabled the PM approach that MCHDI will undertake. Using just a few drops of blood from the child, researchers are able to perform high capacity DNA sequencing to examine the genes that provide instructions for all of the body’s proteins. Especially when compared to similar sequencing of the patient’s parents in order to identify the rare differences, the ability to pinpoint disease-causing DNA mutations is unparalleled in medical history. To date, MCHDI’s experience has proven that this approach can solve medical mysteries, identifying known disease genes presenting in unexpected ways as well as allowing researchers to pinpoint novel ones.

Through the generous support of the GDF, MCHDI is offering this PM approach to infants, children and teenagers with some of the most complex and difficult-to-diagnose medical issues. In addition to accelerating and improving their care, this program will advance medical education by preparing the young physicians in pediatric training at Mount Sinai to use genomic medicine effectively, allowing them to better serve the community in their future practices.

For more than 20 years, Dr. Diaz has conducted research focused on the identification of the genetic basis of single gene disorders, with a number of discoveries published to date. His clinical focus is on inborn errors of metabolism and he is a site Principal Investigator for the NIH-funded Urea Cycle Disorders Consortium. He was the lead author on the pivotal study demonstrating the efficacy of a new treatment for urea cycle disorders, glycerol phenylbutyrate, and has been involved in a number of other clinical trials related to other disorders. He has published over 75 peer-reviewed articles and chapters related to his laboratory and clinical research efforts and has presented his work at numerous scientific meetings and hospital grand rounds.

You can read more about Dr. Diaz’s extensive experience at this website and at the Icahn School of Medicine at Mount Sinai website: http://www.mountsinai.org/profiles/george-a-diaz

###

Ms. Doheny and colleagues at Mount Sinai worked in collaboration with genetic counselors at the Missouri Newborn Screening Program. Missouri is the first state to include Fabry disease in their newborn screening program and has found that over 60% of newborns diagnosed with Fabry have the A143T mutation. The two teams looked at the symptoms as well as the levels of alpha-galactosidase A enzyme (the enzyme that is deficient in males with Fabry disease) in the infants’ family members and other patients in whom the mutation has been identified. Additionally, the Mount Sinai team did further studies to determine the effect of the mutation on the enzyme functioning in the body. They also looked at whether other common mutations called “polymorphisms” in the Fabry gene – which by themselves do not cause Fabry disease — may have an additive effect in people with the A143T mutation, causing more severe symptoms.

The preliminary findings shed light on the disease-causing effect of the A143T mutation but are not conclusive, and, therefore, require continued investigation. It is expected that the results will be applied to better understand why the A143T mutation causes disease in some people and not others, and could have implications for the treatment and monitoring of newborns and patients in which the mutation is identified. The results of the investigation were also presented in a platform presentation at the conference by Dr. Robert Desnick, Dean of Genetics at Genomic Sciences at Mount Sinai.

Fore more information or to contact the author visit the Mount Sinai International Center for Fabry Disease.