Webinar: How to Discuss Genetic Disease with Your Loved Ones

Date:  April 1, 2015
Time:  11:00 am PT / 2:00 pm ET

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There are currently about 7,000 rare diseases identified worldwide, and approximately 80 percent of these are caused by genetic changes. But genetics is a topic that not all of us are familiar with.

This webinar covers the basics of the underlying genetics of rare disease and provides viewers with the strategies and advice to discuss them with the ones they love.

Panelists will share strategies they have used to explain genetic disease, challenges they faced, and helpful resources.

Panelists:
jenna_recombine Jenna Miller, MS, CGC, Genetic Counselor, Recombine

Jenna Miller is a certified genetic counselor at Recombine, a genetic testing company based in New York, NY. She works closely with families seeking preconception and prenatal genetic carrier screening and noninvasive prenatal screening. She also assists physicians and genetic counselors to facilitate appropriate genetic testing procedures. Jenna is passionate about genetics education; her Master’s thesis project involved developing and teaching a Genetics 101 class for student inmates at a maximum security women’s prison. Jenna is an advocate for informed consent, ethical approaches to genetic testing, and support of families affected by genetic conditions.

cyndiCynthia Frank, Director, Patient Advocacy & Meetings, Nat’l Gaucher Foundation

Cyndi is a long-standing member of the Gaucher community and has participated in many clinical trials to help get treatments to market.  She is an NGF Mentor and advocate for Gaucher patients and raising awareness through speaking at conferences, meetings and events, including NGF and other rare and genetic disease-organization meetings, LSD symposiums, and industry and pharmaceutical conferences and educational events.  She serves on multiple boards and committees for many organizations, including the Global Genes Advocacy Leaders Group and the NGF’s Gaucher Advisory Group.

jmillsJanet Mills, Trustee and Patient Advocate, cureCADASIL Association

Janet is often the first point of contact when a new patient is diagnosed with the rare genetic disease CADASIL. She serves on the Board of Trustees of cureCADASIL, and she networks with others in the rare disease community online and at  events. She recently spoke about the genetics behind CADASIL on a Los Angeles radio show. Janet has provided content for two RARE Toolkits, is a guest blogger for the RARE Daily, and has participated in the Global Genes Advocacy Advisors Group.

MichelleFoxMichelle Fox, MS, LCGC, Genetic Counselor Consultant, Invitae

For over 30 years, Michelle coordinated the UCLA Genetics Clinic, providing genetic counseling services to both pediatric and adult populations, including the UCLA Predictive Huntington Disease Testing Program, early onset Alzheimer, and genetic neurodegenerative disorders. Her expertise is both on the provision of clinical services and clinical genetic research in the areas of newborn screening, carrier screening, diagnostic testing, and predictive testing.

A focus of Michelle’s work has been on the ethical issues surrounding the provision of genetic services, shared decision making in offering genetic testing, and best practices in communicating genetic information. Educating the public and providers about genetic testing is the mission of Michelle’s professional career. Michelle is currently providing consultation services to organizations, laboratories, and businesses including Invitae.

Moderator:
Danny_LevineDaniel Levine, Founder & Principal, Levine Media Group

Daniel Levine is an award-winning business journalist who has reported on the life sciences, economic development, and business policy issues throughout his 25-year career. Since 2011, he has served as the lead editor and writer of Burrill Media’s acclaimed annual book on the biotech industry and hosts The Burrill Report’s weekly podcast. His work has appeared in The New York Times, The Industry Standard, TheStreet.com, and other national publications.

Bone Complications in Patients with Cushing’s Syndrome: Looking for clinical, biochemical, and genetic determinants

Osteoporosis International, 11/14/2013  Clinical Article

Trementino L, et al. – Bone loss and fractures are a common complication of CS.

The authors investigate the role of gender, disease etiology, duration, and degree of hypercortisolism as well as the impact of glucocorticoid receptor (GR) polymorphisms on the development of bone complications in CS.

While GR gene variants as well as gender and disease etiology seem not to play a role, the degree and duration of hypercortisolism seem to be the major determinants of bone loss and fractures in this group of patients.

More investigations are needed to understand the real impact of these determinants on the development of bone complications in patients with hypercortisolism.

Read more

Research on Cushing’s Disease Presented at ENDO 2013

endo-chart

Researchers at PHAR, in conjunction with experts from Novartis Pharmaceuticals Corporation, presented the results of several studies on Cushing’s disease at the Endocrine Society’s 95th Annual Meeting on June 19th, 2013.

Cushing’s disease, a pituitary disorder, is poorly studied because of its rarity. The PHAR research team reported on the incidence, treatment patterns, and annual economic burden associated with the disease–topics on which very little was previously known.

The three posters presented at ENDO can be viewed by clicking the links below:

Incidence of Cushing’s Disease in the United States

Real-World Treatment Patterns in Cushing’s Disease Patients in Two Large US Nationwide Databases: Application of a Novel, Graphical Methodology

Annual Economic Burden Associated with Cushing’s Disease in the United States

Help Grow the Rare Disease Congressional Caucus

Take Action . Rare Disease Legislative Advocates at 10.56.06 AM

The Rare Disease Congressional Caucus will help bring public and Congressional awareness to the unique needs of the rare disease community – patients, physicians, scientists, and industry, and create opportunities to address roadblocks in access to and development of crucial treatments.  The Caucus will give a permanent voice to the rare disease community on Capitol Hill.  Working together, we can find solutions that turn hope into treatments.

The screen shot above shows what happens when you fill in the little text box with information about your disease.  The rest is automatically generated.

Please take 3 minutes to ask your Member of Congress to join the Rare Disease Caucus at http://bit.ly/RareAlert.

English: Capitol Hill

English: Capitol Hill (Photo credit: Wikipedia)

It’s easy – the Action Center has a draft letter that will automatically be sent to your Member of Congress – just put in your name and address & click send.  We also encourage you to personalize the letter to share information about your specific disease.  If your Congress Member is already on the Caucus, the letter will automatically populate as a thank you letter instead – these are just as important to send!

It can take up to 10 letters from constituents for a Member to respond so please share this Action Alert with your friends, family, facebook groups, Twitter, blogs & colleagues.

Join our Facebook event & invite your friends:   http://on.fb.me/17Mlpj

In the US? Ask your Member of Congress to join the Rare Disease Congressional Caucus

Help us strengthen the rare disease community’s voice on Capitol Hill!  Please take 3 minutes to ask your Member of Congress to join the Rare Disease Caucus at http://bit.ly/RareAlert.

 

It’s easy – the Action Center has a draft letter that will automatically be sent to your Member of Congress – just put in your name and address & click send.  We also encourage you to personalize the letter to share information about your specific disease.  If your Congress Member is already on the Caucus, the letter will automatically populate as a thank you letter instead – these are just as important to send!

 

It can take up to 10 letters from constituents for a Member to respond so please share this Action Alert with your friends, family & colleagues.  Join our Facebook event & invite your friends:   http://on.fb.me/17Mlpjg

 

The Rare Disease Congressional Caucus will help bring public and Congressional awareness to the unique needs of the rare disease community – patients, physicians, scientists, and industry, and create opportunities to address roadblocks in access to and development of crucial treatments.  The Caucus will give a permanent voice to the rare disease community on Capitol Hill.  Working together, we can find solutions that turn hope into treatments.

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