April 4, 2014 This puppy is a Nova Scotia Duck Tolling Retriever, the breed with the newly discovered genetic mutation for cleft palate. (Danika Bannasch/UC Davis) UC Davis School of Veterinary Medicine researchers have identified the genetic mutation responsible for a form of cleft palate in the dog breed Nova Scotia Duck Tolling Retrievers. They hope that the discovery, which provides the first dog model for the craniofacial defect, will lead to a better understanding of cleft palate in humans. Although cleft palate is one of the most common birth defects in children, affecting approximately one in 1,500 live human births in the United States, it is not completely understood. The findings appear this week online in the journal PLOS Genetics and are available online at https://tinyurl.com/knr8wb3. This discovery provides novel insight into the genetic cause of a form of cleft palate through the use of a less conventional animal model, said Professor Danika Bannasch, a veterinary geneticist who led the study. It also demonstrates that dogs have multiple genetic causes of cleft palate that we anticipate will aid in the identification of additional candidate genes relevant to human cleft palate. Bannasch, who holds the Maxine Adler endowed chair in … Continue reading →

PUBLIC RELEASE DATE: 4-Apr-2014 Contact: Kathy Ridgely Beal, M.B.A. kbeal@acmg.net 301-238-4582 American College of Medical Genetics Huma Q. Rana, MD of Harvard Medical School's Dana Farber Cancer Institute is the recipient of the 2014 Richard King Trainee Award. This award was instituted five years ago by the ACMG Foundation for Genetic and Genomic Medicine to encourage ABMG or genetic counseling trainees in their careers and to foster the publication of the highest quality research in ACMG's peer-reviewed journal, Genetics in Medicine (GIM). Each year the editorial board reviews all articles published in GIM by an ABMG or genetic counseling trainee who was either a first or corresponding author during that year. The manuscript felt to have the most merit is selected by the editorial board and a cash prize awarded at the 2014 ACMG Annual Clinical Genetics Meeting. Dr. Rana was given the award for her manuscript titled, " Age-Specific Parkinson Disease Risk in GBA Mutation Carriers: Information for Genetic Counseling" which was published in the February 2013 issue of Genetics in Medicine. The corresponding author was Roy Alcalay, MD, MS of Columbia University. The award is given by the ACMG Foundation and is named for Dr. Richard King in … Continue reading →

Genetic screening of cancer can help doctors customize treatments so that patients with melanoma have the best chance of beating it, according to the results of a clinical trial by researchers at the University of Pittsburgh Cancer Institute (UPCI), a partner with UPMC CancerCenter. The trial, funded by the National Institutes of Health (NIH), will be presented Monday at the American Association for Cancer Research (AACR) Annual Meeting 2014. It showed that the cancer immune therapy drug ipilimumab appears most likely to prevent recurrence in patients whose cancer shows high expression of immune-related genes. "We've reached a point in the treatment of melanoma -- and cancer in general -- where we're making major improvements in the outcomes of patients through personalized medicine," said lead investigator Ahmad Tarhini, M.D., Ph.D., associate professor of medicine and translational science in Pitt's Department of Medicine and Clinical and Translational Science Institute. "Anti-cancer therapy can be associated with significant side effects and economic costs. Therefore, we have a major interest in the development of tests that may allow us to predict which treatment regimen is most likely to help certain patients, while sparing others the unwanted side effects and cost of medications that are unlikely … Continue reading →

PUBLIC RELEASE DATE: 4-Apr-2014 Contact: Kathy Ridgely Beal, MBA kbeal@acmg.net 301-238-4582 American College of Medical Genetics Paldeep S. Atwal, MD of Stanford University/Lucile Packard Children's Hospital and Jamie J. Barea, MD, of University of California, San Diego were honored as the 2014-2015 recipients of the Genzyme/ACMG Foundation Medical Genetics Training Award in Clinical Biochemical Genetics at the ACMG 2014 Annual Clinical Genetics Meeting in Nashville, TN. The objective of the two Genzyme/ACMG Foundation Awards is to support a national training program to encourage the recruitment and training of clinicians in the field of clinical biochemical genetics and especially in the diagnosis, management and treatment of individuals with metabolic diseases. Two awardees are given the opportunity to participate in an in-depth clinical and research experience at a premier medical center with expertise and significant clinical volume in the area of biochemical genetics. The Award grants $75,000 per year to each of two recipients' institution selected by the ACMG Foundation through a competitive process and will provide for the sponsorship of one year of the trainees' clinical genetics subspecialty in biochemical genetics following residency. Dr. Atwal received his MD from the University Of Glasgow, Scotland; completed his internal medicine residency with The … Continue reading →

April 5, 2014, 3 a.m. A genetic test to predict the start of menopause is likely to be available within five years, allowing women to make more informed decisions about their health and fertility, a leading expert says. A genetic test to predict the start of menopause is likely to be available within five years, allowing women to make more informed decisions about their health and fertility, a leading expert says. Professor of Reproductive Medicine and Gynaecology at University Medical Centre in the Netherlands, Bart Fauser, said given menopause could begin at very different ages, including before 40 years for about one in 100 women, a test to more precisely predict the timing would be extremely useful, especially for women wanting children. ''The mean age of menopause is 51 but the normal range is between 40 and 60, which is quite considerable 20 years from minimum to maximum means that for some women, ovarian function lasts 50 per cent longer than for others,'' he said. ''Women often postpone having children until their career is well established, but many find it difficult to become pregnant because of declining fertility after the age of 30. Therefore, it would be very useful for … Continue reading →

Adult Stem Cell Therapy: Nykol's Story Nykol is a beautiful, bright 22 year old student who underwent an Adult Stem Cell Therapy utilizing Stem Cells from her own fat. Hear her story and share her... By: MyStemCellTherapy Arizona … Continue reading →

By Estel Grace Masangkay CardioCell LLC announced that it has received FDA approval for its investigational new drug (IND) application for a U.S.-based Phase IIA clinical study evaluating its allogeneic stem-cell therapy for patients with chronic heart failure (CHF). Dr. Sergey Sikora, CardioCells president and CEO, said, With the FDAs IND approval, CardioCell is pleased to proceed with a Phase 2a CHF clinical trial based on the safety data reported in previous clinical trials using our unique, hypoxically grown stem cells. At the studys conclusion we will understand if our therapy produces signs of improvement in a population of patients with dilated CHF, a condition largely unaddressed by current therapies. Dilated CHF is characterized by a viable but non-functioning myocardium in which cardiomyocytes are alive but are not contracting as they should. We hope that unique properties of our itMSCs will transition patients cardiomyocytes from viable to functioning, eventually improving or restoring heart function. The company has developed an ischemic tolerant mesenchymal stem cells (itMSC) treatment for the type of dilated CHF that is not related to coronary artery disease. The treatment could potentially apply to about 35 percent of CHF patients. Only CardioCells CHF therapies feature itMSCs, exclusively licensed … Continue reading →

While giving a talk at a conference in Australia in the mid-2000s, IBM Research's lead scientist for the advanced organic materials group, James Hedrick, had an encounter that would make him rethink his career. At one point, Hedrick--who holds more than 100patents--took a question from a woman in the audience. It wasn't what he was expecting. "Why are you wasting your time with all this electronics stuff?" asked Dr. Yi Yan Yang, who works at the Institute of Bioengineering and Nanotechnology in Singapore. "You need to work with me." That evening, Yang filled Hedrick in on how she was using high-tech nanomaterials for medical purposes. "She was absolutely right," Hedrick recalls. "I was wasting time doing just semiconductors." The result was IBM's unusual nanomedicine program, an ongoing collaboration between Hedrick's team at the Almaden, Californiabased IBM Research and Yang's group of researchers in Singapore. The project is tackling a range of ambitious projects: creating better antimicrobial and antifungal agents, new methods of drug delivery, and novel ways of combating such diseases as HIV/AIDS and tuberculosis. It may seem strange that computer-hardware giant IBM is pouring resources into experimental nanomedicine, but it's part of a larger trend within the company. "There … Continue reading →