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Mission Statement: The United Leukodystrophy Foundation is dedicated to helping children and adults who have Leukodystrophy and assisting the family members, professionals and support services that serve them. The ULF is committed to the identification, treatment and cure of all leukodystrophies through programs of education, advocacy, research and service.

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Metachromatic Leukodystrophy (MLD) Meeting

September 19, 20, 2008

DeKalb, Illinois

2009 26th ULF Scientific Symposium and Family Conference

July 16th - 18th 2009

DeKalb, Illinois

VISIT OUR:  LEUKODYSTROPHY SUPPORT COMMUNITY

Victor A. McKusick, M.D.

It is with great sadness that we inform you that Victor Almon McKusick, M.D., University Professor of Medical Genetics since 1985, namesake of the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine, and a towering international figure in genetics research, diagnosis and treatment, died Tuesday, July 22, at
home. He was 86.

To the world genetics community, Victor has been rightfully honored as the founding father of medical genetics as a specialty, as well as a strong mentor by generations of students, trainees and faculty.

Throughout his energetic and long professional career, spent entirely at Johns Hopkins beginning with medical school, class of 1946, he served as Osler Professor and chairman of the Department of Medicine and physician in chief of The Johns Hopkins Hospital from 1973 to 1985. He was a distinguished cardiologist and executive chief of the cardiovascular unit at Baltimore Marine Hospital while progressing rapidly through the ranks in the Johns Hopkins Department of Medicine.

He completed his internship and residency in internal medicine and training in cardiology here, held joint professorships in epidemiology
in the Johns Hopkins University School of Public Health and in biology at The Johns Hopkins University. In 1957, Victor founded the Division of Medical Genetics and became a full professor in the Department of Medicine in 1960.

An early proponent of the complete mapping of the human genome, in 1966 Victor created the first edition of his now classic reference Mendelian Inheritance in Man, an ever-enlarging compilation of inherited disease genes, which now exists as OMIM, Online Mendelian Inheritance in Man, a continuously updated version on the Internet, providing a searchable
database of disease genes’ locations and characteristics.

Victor was the recipient of scores of national and international
prizes, honorary doctorates and accolades, including the 1997 Albert Lasker Award for Special Achievement in Medical Science, the 2001 National Medal of Science, and the 2008 Japan Price in Medical Genetics and Genomics. He was the founding president of the Human Genome Organization and a member of the National Academy of Sciences.

Visitation is scheduled for Friday, Aug. 1 from 3 p.m. to 5 p.m., and from 7 p.m. to 9 p.m. at the Ruck Towson Funeral Home, in Towson, Maryland.  A memorial service will be held Saturday, Aug. 2 at 2 p.m. at the Second Presbyterian Church of Baltimore. Interment will be Friday, Aug. 8 at 11 a.m. at Pingree Cemetery in Parkman, Maine.


To read more about the life and work of

Victor A. McKusick, M.D., go to:

European Genetics Foundation:
http://www.ronzano.org/index.php?l=it&p=mcks

Lasker Award 1997:
http://www.the-scientist.com/article/display/17766/
http://www.jhu.edu/news_info/news/univ97/sep97/lasker2.html

National Academies of the Sciences
http://www.nasonline.org/site/PageServer?pagename=AWARDS_scirev

Oral History of Human Genetics Project
http://www.socgen.ucla.edu/hgp/mckusick.html

University of New England
CHP and CAS Honorary Degree Recipients 2008
http://www.une.edu/studentlife/graduation/honorary.asp

Memorial University of Newfoundland
World’s best known geneticist visits Memorial
http://www.med.mun.ca/munmed/104/genetics.htm

The New York Academy of Medicine 2006
http://www.nyam.org/news/2663.html

Other Links:
http://astro4.ast.vill.edu/mendel/mckusick.htm

PHARMACEUTICALS, INC.

Rare dedication

FOR IMMEDIATE RELEASE:

Sigma-Tau Pharmaceuticals Seeking FDA Approval of Medicine for Rare Genetic Disease Affecting Less Than 100 Americans

Jul 09, 2008, GAITHERSBURG, MD Sigma-Tau Pharmaceuticals, Inc. is pleased to announce the acquisition of Chenofalk(R) (chenodeoxycholic acid) from the Germany-based, Dr. Falk Pharma GmbH. Chenofalk(R) is approved in Germany for the dissolution of gallstones, and Sigma-Tau's German affiliate, Sigma-Tau Arzneimittel GmbH, will immediately assume distribution of this important medicine, ensuring there is no interruption in availability to patients.

The acquisition of Chenofalk(R) is important not only to ensure continued supply in Germany, but Sigma-Tau Pharmaceuticals also intends to accumulate the appropriate clinical and regulatory documentation required to support the filing of a New Drug Application (NDA) with the U.S. Food and Drug Administration (FDA) for the use of chenodeoxycholic acid (CDCA) in the treatment of Cerebrotendinous Xanthomatosis (CTX) disease. CTX is an extremely rare genetic disease which is believed to affect fewer than one hundred people in the U.S.

"We are pleased to add CDCA to Sigma-Tau's rare disease portfolio. Sigma-Tau is committed to the development of medicines for patients with rare diseases, and the acquisition of Chenofalk(R) provides relief to patients concerned about a disruption in supply," said Gregg Lapointe, Chief Executive Officer of Sigma-Tau Pharmaceuticals. "Acquiring the underlying clinical, manufacturing and safety data contained in the Chenofalk(R) dossier is also an important milestone in Sigma-Tau's goal of ultimately securing FDA approval for the use of CDCA in patients with CTX."

CTX is a metabolic disorder with no FDA-approved treatment in the United States. People with this disorder cannot break down certain cholesterols effectively. Consequently, these cholesterols accumulate in various areas of the body. Some features of CTX include chronic diarrhea during infancy, clouding of the lens of the eye (cataracts) developing in late childhood, progressively brittle bones that are prone to fracture, and neurological problems in adulthood, such as dementia, seizures, hallucinations, depression, and difficulty with coordinating movements (ataxia) and speech (dysarthria).

In 2007, Sigma-Tau obtained an Orphan Drug Designation from the FDA for the use of CDCA in CTX. Since then, Sigma-Tau has worked closely with the United Leukodystrophy Foundation (ULF) to better understand the impact of CTX disease on patients and the importance of proper newborn screening for the disease.

About Cerebrotendinous Xanthomatosis (CTX)

Cerebrotendinous Xanthomatosis (CTX) is a rare, autosomal recessive metabolic disorder caused by mutations in a gene called CYP27A1, which produces an enzyme called sterol 27-hydroxylase. Sterol 27-hydroxylase is required to turn cholesterol into bile acids, which are important in the absorption of fat in the intestine. In addition, when sterol-27 hydroxylase is not working properly, cholesterol and precursors of bile acids will accumulate in tissues throughout the body causing a variety of physiologic and neurological problems.

About Sigma-Tau Pharmaceuticals, Inc.

Sigma-Tau Pharmaceuticals, Inc. is a U.S. based, wholly owned subsidiary of the Sigma-Tau Group, and is dedicated solely to the global development and commercialization of medicines for patients with rare diseases. Sigma-Tau Pharmaceuticals, Inc. is based in Gaithersburg, Maryland.

Since 1989, the company's products have been focused on rare diseases, kidney disease, and cancer. With more than 6,000 identified rare diseases that affect approximately 25 million patients in the U.S., Sigma-Tau places its considerable scientific resources behind the development and commercialization of compounds that benefit the few. The company has a substantial development program focused on transplant, cancer, inherited genetic disorders, malaria, and other areas of unmet medical need. For more information about the company, visit www.sigmatau.com.

About Sigma-Tau Group

Sigma-Tau Group is a leading research-based Italian pharmaceutical company with a 2007 consolidated turnover equal to approximately US$ 980 million and over 2,500 employees worldwide. Therapeutic areas in which Sigma-Tau Group's research and development are focused include cardiovascular disease, metabolism, oncology, immunology, central and peripheral nervous system with 47 projects, 30 clinical indications studied with 17 proprietary molecules, most of which are new and original. For additional information about Sigma-Tau Group, please visit www.sigma-tau.it.

About United Leukodystrophy Foundation (ULF)

The United Leukodystrophy Foundation (ULF) is dedicated to helping patients and family members afflicted with various types of leukodystrophies including CTX. The ULF is committed to the identification, treatment and cure of all leukodystrophies through programs of education, advocacy, research and service.

For more information, please contact:

Marc Tewey

Vice President of Commercial Operations

Phone: 301-670-1518

Email:Marc.Tewey@sigmatau.com

VISIT OUR:  LEUKODYSTROPHY SUPPORT COMMUNITY

The ULF has always encouraged a sense of family, support, belonging and communication. To further extend that philosophy, the ULF has partnered with the online community network Team Inspire to provide a mechanism for patients, caregivers and physicians to communicate in a common online forum for Leukodystrophy support. 

The Inspire community breaches a wide range of health related communities and felt that the ULF was a good fit for the community. The Inspire community provides several mechanisms for communicating with the members. There are blog pages where individuals can post their daily thoughts. There are discussion topics that members can start and get into a dialog with other members. There is also individual messaging capability to send messages to a single community member.  

We feel that the Inspire community is another positive step in that direction and we encourage everyone who can, to join the ULF Inspire community. Membership is completely free and it only takes a few moments to sign up and become a member. 

We hope that this will allow for a wider communication network and foster even more communication outside of ULF meetings and other conferences. Click the link above or on the left to get started now. 

GINA signed into Law

FOR IMMEDIATE RELEASE
MAY 21, 2008

For More Information Contact:
Sharon Terry – sterry@geneticalliance.org or 202.966.5557 x201 Iris Maldonado – imaldonado@amplifypublicaffairs.net or 202.263.2580

President Bush Signs Landmark Genetic Nondiscrimination Information Act Into Law
     
Washington, D.C. – May 21, 2008 – The Coalition for Genetic Fairness (http://www.geneticfairness.org/) commends President George W. Bush for signing into law today the first civil rights legislation of the new millennium, the Genetic Information Nondiscrimination Act (GINA). GINA is the first and only federal legislation that will provide protections against discrimination based on an individual’s genetic information in health insurance coverage and employment settings.

“This is a tremendous victory for every American not born with perfect genes – which means it’s a victory for every single one us,” said Representative Louise Slaughter (D-NY).  “Since all of us are predisposed to at least a few genetic-based disorders, we are all potential victims of genetic discrimination.”

“Today marks the beginning of a new era in health care,” continued Slaughter.  “Americans can finally take advantage of the tremendous potential of genetic research without the fear that their own genetic information will be used against them.”
 
Just a few weeks ago, GINA received overwhelming support in both the Senate, with a unanimous vote of approval, and the House of Representatives, where the legislation was passed by a landslide vote of 414-1.

”Individuals no longer have to worry about being discriminated against on the basis of their genetic information, and with this assurance, the promise of genetic testing and disease management and prevention can be realized more fully,” stated Sharon Terry, president of the Coalition and CEO of Genetic Alliance (http://www.geneticalliance.org/).“We applaud our champions on the Hill who have worked tirelessly to pass this important legislation. It is now our responsibility to make sure the public knows that these new protections are in place.”


The health insurance protections offered by GINA are expected to roll out 12 months after the bill is signed, whereas the employment protections will be fully realized in 18 months.

“Now that GINA has been approved and signed into federal law by the President, American health care consumers and employees will no longer have to fear the adverse effects of being tested to determine their risk status for genetic diseases,” said Joann Boughman, Ph.D., executive vice president of the American Society of Human Genetics (http://www.ashg.org/) and a member of the Coalition’s executive committee. “Once this legislation has taken effect, clinicians will be able to order genetic tests for patients and their families in a manner that ensures the full realization of the advantages of personalized medicine models, while easing patients’ concerns about the risk of genetic discrimination by insurance companies and employers based on this data.”

Specifically, the legislation protects against genetic discrimination by health insurers or employers by:

•    Prohibiting group health plans and issuers offering coverage on the group or individual market from basing eligibility determinations or adjusting premiums or contributions on the basis of genetic information. They cannot request, require or purchase the results of genetic tests, or disclose genetic information.

•    Prohibiting issuers of Medigap policies from adjusting pricing or conditioning eligibility on the basis of genetic information. They cannot request, require or purchase the results of genetic tests, or disclose genetic information.

•    Prohibiting employers from firing, refusing to hire, or otherwise discriminating with respect to compensation, terms, conditions or privileges of employment. Employers may not request, require or purchase genetic information, and may not disclose genetic information. Similar provisions apply to employment agencies and labor organizations.

###

The Coalition for Genetic Fairness is an alliance of advocacy organizations, health professionals, and industry leaders working to educate Congressional policymakers about the importance of legal protections for genetic information and ensure passage of meaningful genetic information nondiscrimination legislation.
 The Coalition for Genetic Fairness is led by: Genetic Alliance, Affymetrix, American Academy of Pediatrics, American Heart Association, American Society of Human Genetics, Brown University, Hadassah, National Society of Genetic Counselors, the National Workrights Institute and the PKD Foundation.

Coalition for Genetic Fairness • http://www.geneticfairness.org • 4301 Connecticut Ave. NW #404, Washington DC • 20008-2369 • Phone: 202.966.5557 • Fax: 202.966.8553

Shire enhances its orphan drug pipeline with the acquisition of a new clinical candidate for Metachromatic Leukodystrophy

Basingstoke, UK and Cambridge, MA, US – 24 April, 2008 –

Shire plc (LSE: SHP, NASDAQ: SHPGY), the global specialty biopharmaceutical company, announces the acquisition of arylsulfatase –A (ASA) an Enzyme Replacement Therapy (ERT) in Phase 1-2 clinical trials for Metachromatic Leukodystrophy (MLD) from the Danish company Zymenex A/S (Zymenex).

MLD is a serious, life-limiting disease in which patients experience progressive irreversible neurological damage. MLD is caused by a deficiency in the enzyme ASA which causes an excess concentration of sulphatide in cells and an ensuing breakdown of myelin. There are approximately 2,000 MLD patients in developed world markets¹. The newly acquired ASA product, currently known as METAZYM™, has completed a Phase Ib clinical trial in 12 MLD patients in Europe and an extension to this study is ongoing. The product has received Food and Drug Administration (FDA) approval for its Investigational New Drug (IND) application to initiate a phase 2 clinical trial and has been granted Orphan Drug Designation in the United States and in the European Union. Sylvie Grégoire, President of Shire’s Human Genetic Therapies business, commented: “This product fits very well with Shire’s ERT portfolio of treatments for Lysosomal Storage Disorders (LSD). Shire HGT has been committed to MLD and by acquiring this mid-stage clinical program we hope to bring a MLD treatment to patients two years earlier than anticipated.” Shire is making a payment to Zymenex of US$135 million for the acquisition of global rights to the product upon completion of the transaction, which is conditional upon the receipt of customary consents. Zymenex is also providing certain transition services, including know how transfer, for up to six months after completion. The transaction includes no royalties or other downstream payment obligations. -ends-
¹ Scriver et al 1995

For further information please contact:
Investor Relations Cléa Rosenfeld (Rest of the World) +44 1256 894 160 Eric Rojas (North America) +1 484 595 8252
Media Jessica Mann (Rest of the World) +44 1256 894 280
Matthew Cabrey (Specialty Pharma - NA) +1 484 595 8248
Jessica Cotrone (Human Genetic Therapies - NA) +1 617 613 4640 Hampshire International Business Park
Chineham Basingstoke Hampshire RG24 8EP
United Kingdom
Tel +44 (0)1256 894000
Fax +44 (0)1256 894708
www.shire.com Press Release 2

Disease Background

Metachromatic Leukodystrophy (MLD) is in the family of lysosomal storage diseases (LSD’s). MLD is an autosomal recessive disease caused by a deficiency of the lysosomal enzyme arylsulfatase A (ASA) which results in an increased concentration of sulphatide in cells of the brains and in nonneural tissue, such as the kidneys and gallbladder. When these sulfated glycolipids accumulate in the brain, they cause a breakdown of myelin, a substance that protects the nerves in the brains and in the rest of the body. This breakdown is what makes MLD a progressive, neurodegenerative disease.

Symptoms and Patient Outlook

Sulfatide accumulation in the central and peripheral nervous system leads to destruction of the myelin sheath (demyelination). MLD has a spectrum of disease which can arise in infants and young children with a range of symptoms, though most are related to motor and cognitive decline. Most MLD patients are normal at birth but often die before age 20, with some patients within the first few years of life. During the final stages all patients reach a decerebrate, vegetative state. The majority of
cases are late infantile or juvenile patients. The number of adult patients exhibiting mild forms of MLD is unknown, as adult onset MLD can present with symptoms similar to psychosis.

SHIRE PLC

Shire’s strategic goal is to become the leading specialty biopharmaceutical company that focuses on meeting the needs of the specialist physician. Shire focuses its business on attention deficit and hyperactivity disorder (ADHD), human genetic therapies (HGT), gastrointestinal (GI) and renal diseases. The structure is sufficiently flexible to allow Shire to target new therapeutic areas to the extent opportunities arise through acquisitions. Shire’s in-licensing, merger and acquisition efforts
are focused on products in niche markets with strong intellectual property protection either in the US
or Europe. Shire believes that a carefully selected portfolio of products with strategically aligned and
relatively small-scale sales forces will deliver strong results.

For further information on Shire, please visit the Company’s website: www.shire.com.

"SAFE HARBOR" STATEMENT UNDER THE PRIVATE SECURITIES LITIGATION REFORM ACT OF 1995

Statements included herein that are not historical facts are forward-looking statements. Such forward-looking statements involve a number of risks and uncertainties and are subject to change at any time. In the event such risks or uncertainties materialize, Shire’s results could be materially affected. The risks and uncertainties include, but are not limited to, risks associated with: the inherent
uncertainty of pharmaceutical research, product development including, but not limited to the successful development of JUVISTA® (Human TGFβ3) and veleglucerase alfa (GA-GCB); manufacturing and commercialization including, but not limited to, the establishment in the market of VYVANSE™ (lisdexamfetamine dimesylate) (Attention Deficit and Hyperactivity Disorder (“ADHD”)); the impact of competitive products, including, but not limited to, the impact of those on Shire’s ADHD franchise; patents, including but not limited to, legal challenges relating to Shire’s ADHD franchise; government regulation and approval, including but not limited to the expected product approval date of INTUNIV™ (guanfacine extended release) (ADHD); Shire’s ability to secure new products for commercialization and/or development; and other risks and uncertainties detailed from time to time in Shire plc’s filings with the Securities and Exchange Commission, including Shire plc’s Annual Report on Form 10-K for the year ended December 31, 2007.